CleftGeneDB-Search

Gene: SMAD1

Basic information

Tag	Content
Uniprot ID	Q15797; A8KAJ0; D3DNZ9; Q16636; Q9UFT8;
Entrez ID	4086
Genbank protein ID	EAX05039.1; AAC50621.1; AAC50790.1; EAX05037.1; EAX05038.1; AAC50493.1; AAH01878.1; AAP36050.1; CAB55898.1; AAB06852.1; EAX05040.1; BAF85744.1;
Genbank nucleotide ID	XM_011531961.1; XM_005262992.3; XM_011531964.1; XM_011531962.1; XM_011531963.1; XM_006714217.2; NM_005900.2; NM_001003688.1;
Ensembl protein ID	ENSP00000305769; ENSP00000426568; ENSP00000377652;
Ensembl nucleotide ID	ENSG00000170365
Gene name	Mothers against decapentaplegic homolog 1
Gene symbol	SMAD1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	14755461
Functional description	Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. May act synergistically with SMAD4 and YY1 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression.
Sequence	MNVTSLFSFT SPAVKRLLGW KQGDEEEKWA EKAVDALVKK LKKKKGAMEE LEKALSCPGQ 60 PSNCVTIPRS LDGRLQVSHR KGLPHVIYCR VWRWPDLQSH HELKPLECCE FPFGSKQKEV 120 CINPYHYKRV ESPVLPPVLV PRHSEYNPQH SLLAQFRNLG QNEPHMPLNA TFPDSFQQPN 180 SHPFPHSPNS SYPNSPGSSS STYPHSPTSS DPGSPFQMPA DTPPPAYLPP EDPMTQDGSQ 240 PMDTNMMAPP LPSEINRGDV QAVAYEEPKH WCSIVYYELN NRVGEAFHAS STSVLVDGFT 300 DPSNNKNRFC LGLLSNVNRN STIENTRRHI GKGVHLYYVG GEVYAECLSD SSIFVQSRNC 360 NYHHGFHPTT VCKIPSGCSL KIFNNQEFAQ LLAQSVNHGF ETVYELTKMC TIRMSFVKGW 420 GAEYHRQDVT STPCWIEIHL HGPLQWLDKV LTQMGSPHNP ISSVS 465

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1KHU
2LAW
2LAX
2LAY
2LAZ
2LB0
2LB1
3Q47
3Q4A
5ZOK
1KHU
3Q47

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Developmental stage	Species	Evidence	Details
1:1 ortholog	SMAD1	540488	Q1JQA2		Bos taurus	Prediction	More>>
1:1 ortholog	SMAD1	475456	E2QZF1		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	SMAD1		A0A452E7S9		Capra hircus	Prediction	More>>
1:1 ortholog	SMAD1	100033850	F6W0G0		Equus caballus	Prediction	More>>
1:1 ortholog	SMAD1	4086	Q15797		Homo sapiens	Publication	More>>
1:1 ortholog	Smad1	17125	P70340	E13.5, E14.5	Mus musculus	Prediction	More>>
1:1 ortholog	SMAD1		H2QQ88		Pan troglodytes	Prediction	More>>
1:1 ortholog	SMAD1	397016	Q864V7		Sus scrofa	Prediction	More>>
1:1 ortholog	SMAD1	100341544	A0A5F9CKV6		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Smad1		A0A0G2JSQ6		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1466114055	p.Asn2Ser	missense variant	-	NC_000004.12:g.145514618A>G	TOPMed
RCV000054384	p.Val3Ala	missense variant	Variant of unknown significance	NC_000004.12:g.145514621T>C	ClinVar
RCV000488453	p.Val3Ala	missense variant	Primary pulmonary hypertension (PPH1)	NC_000004.12:g.145514621T>C	ClinVar
rs587777018	p.Val3Ala	missense variant	-	NC_000004.12:g.145514621T>C	-
rs587777018	p.Val3Ala	missense variant	-	NC_000004.12:g.145514621T>C	UniProt,dbSNP
VAR_066869	p.Val3Ala	missense variant	-	NC_000004.12:g.145514621T>C	UniProt
rs1263555564	p.Leu6Val	missense variant	-	NC_000004.12:g.145514629T>G	TOPMed
rs1483244170	p.Phe9Leu	missense variant	-	NC_000004.12:g.145514640T>A	gnomAD
rs1427144576	p.Ala13Val	missense variant	-	NC_000004.12:g.145514651C>T	gnomAD
rs1198375823	p.Ala13Thr	missense variant	-	NC_000004.12:g.145514650G>A	gnomAD
rs764152098	p.Val14Met	missense variant	-	NC_000004.12:g.145514653G>A	ExAC,TOPMed,gnomAD
rs1314342936	p.Lys15Asn	missense variant	-	NC_000004.12:g.145514658G>T	TOPMed
rs753790034	p.Leu18Ile	missense variant	-	NC_000004.12:g.145514665C>A	ExAC,gnomAD
rs778232288	p.Gly23Val	missense variant	-	NC_000004.12:g.145514681G>T	ExAC,TOPMed,gnomAD
rs778232288	p.Gly23Ala	missense variant	-	NC_000004.12:g.145514681G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp29Ter	stop gained	-	NC_000004.12:g.145514700G>A	NCI-TCGA
NCI-TCGA novel	p.Trp29MetPheSerTerUnk	frameshift	-	NC_000004.12:g.145514692_145514693insA	NCI-TCGA
NCI-TCGA novel	p.Glu31AlaPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.145514704_145514705insCAGAAGAGATTTGTTTATTTAC	NCI-TCGA
COSM1309779	p.Asp35Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145514716G>A	NCI-TCGA Cosmic
rs1288555676	p.Ala36Thr	missense variant	-	NC_000004.12:g.145514719G>A	TOPMed,gnomAD
COSM3600656	p.Lys39Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145514728A>G	NCI-TCGA Cosmic
COSM1427368	p.Lys40AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.145514728A>-	NCI-TCGA Cosmic
rs1306391615	p.Lys42Arg	missense variant	-	NC_000004.12:g.145514738A>G	gnomAD
NCI-TCGA novel	p.Ala47Val	missense variant	-	NC_000004.12:g.145514753C>T	NCI-TCGA
rs1276376128	p.Met48Val	missense variant	-	NC_000004.12:g.145514755A>G	gnomAD
NCI-TCGA novel	p.Met48IlePheSerTerUnk	stop gained	-	NC_000004.12:g.145514756_145514757insTCCTAGTGTTTAAAAAA	NCI-TCGA
rs1166928530	p.Ala54Val	missense variant	-	NC_000004.12:g.145514774C>T	TOPMed
rs1266428811	p.Cys57Ser	missense variant	-	NC_000004.12:g.145514782T>A	gnomAD
rs1447739675	p.Cys57Phe	missense variant	-	NC_000004.12:g.145514783G>T	TOPMed
rs1489454560	p.Pro58Thr	missense variant	-	NC_000004.12:g.145514785C>A	gnomAD
rs370506404	p.Pro61Leu	missense variant	-	NC_000004.12:g.145514795C>T	ESP,ExAC,TOPMed,gnomAD
rs748536621	p.Pro61Ser	missense variant	-	NC_000004.12:g.145514794C>T	ExAC,TOPMed,gnomAD
rs1391030652	p.Arg69Cys	missense variant	-	NC_000004.12:g.145514818C>T	gnomAD
rs1162136731	p.Ser70Pro	missense variant	-	NC_000004.12:g.145514821T>C	gnomAD
rs774689895	p.Leu71Val	missense variant	-	NC_000004.12:g.145514824C>G	ExAC,gnomAD
rs765216463	p.Arg80Pro	missense variant	-	NC_000004.12:g.145514852G>C	ExAC,gnomAD
rs1244767218	p.Gly82Ala	missense variant	-	NC_000004.12:g.145514858G>C	gnomAD
rs1202355470	p.Tyr88Ser	missense variant	-	NC_000004.12:g.145514876A>C	TOPMed
rs1340868784	p.Arg90His	missense variant	-	NC_000004.12:g.145514882G>A	TOPMed
rs1274878726	p.Val91Leu	missense variant	-	NC_000004.12:g.145514884G>C	TOPMed
NCI-TCGA novel	p.Val91Ala	missense variant	-	NC_000004.12:g.145514885T>C	NCI-TCGA
NCI-TCGA novel	p.Trp92Ter	stop gained	-	NC_000004.12:g.145514888G>A	NCI-TCGA
NCI-TCGA novel	p.Trp92Ter	stop gained	-	NC_000004.12:g.145514889G>A	NCI-TCGA
rs1260108423	p.Arg93Cys	missense variant	-	NC_000004.12:g.145514890C>T	gnomAD
NCI-TCGA novel	p.Asp96Asn	missense variant	-	NC_000004.12:g.145514899G>A	NCI-TCGA
rs1190612353	p.His100Tyr	missense variant	-	NC_000004.12:g.145514911C>T	gnomAD
rs1444311642	p.His101Asn	missense variant	-	NC_000004.12:g.145514914C>A	gnomAD
rs759155927	p.His101GlnAspLeuGlyProLeuLysSerTerValProUnk	stop gained	-	NC_000004.12:g.145514915_145514916insGGATCTTGGCCCCCTCAAGTCCTGAGTGCCT	ExAC
rs1181944797	p.His101Gln	missense variant	-	NC_000004.12:g.145514916T>A	TOPMed,gnomAD
COSM1427369	p.His101Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145514915A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu102Ter	stop gained	-	NC_000004.12:g.145514917G>T	NCI-TCGA
rs755340141	p.Cys108Tyr	missense variant	-	NC_000004.12:g.145514936G>A	ExAC,gnomAD
rs151149022	p.Glu110Ala	missense variant	-	NC_000004.12:g.145514942A>C	ESP
rs781477906	p.Glu110Gln	missense variant	-	NC_000004.12:g.145514941G>C	ExAC,gnomAD
rs748527815	p.Gly114Ala	missense variant	-	NC_000004.12:g.145514954G>C	ExAC
rs1368835528	p.Ser115Cys	missense variant	-	NC_000004.12:g.145514957C>G	TOPMed
rs770267997	p.Lys116Arg	missense variant	-	NC_000004.12:g.145514960A>G	ExAC,TOPMed,gnomAD
rs749373920	p.Gln117His	missense variant	-	NC_000004.12:g.145514964G>T	ExAC,gnomAD
rs1365256709	p.Glu119Asp	missense variant	-	NC_000004.12:g.145514970G>T	gnomAD
NCI-TCGA novel	p.Pro124His	missense variant	-	NC_000004.12:g.145514984C>A	NCI-TCGA
rs759778197	p.Lys128Asn	missense variant	-	NC_000004.12:g.145514997G>C	ExAC,gnomAD
rs1169433650	p.Lys128Glu	missense variant	-	NC_000004.12:g.145514995A>G	TOPMed
COSM1427370	p.Arg129Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145514999G>A	NCI-TCGA Cosmic
rs1210509263	p.Glu131Gly	missense variant	-	NC_000004.12:g.145515005A>G	gnomAD
rs1223655159	p.Ser132Ile	missense variant	-	NC_000004.12:g.145515008G>T	gnomAD
rs776357140	p.Ser132Cys	missense variant	-	NC_000004.12:g.145515007A>T	ExAC,TOPMed,gnomAD
rs776357140	p.Ser132Gly	missense variant	-	NC_000004.12:g.145515007A>G	ExAC,TOPMed,gnomAD
rs765138085	p.Pro133Leu	missense variant	-	NC_000004.12:g.145515011C>T	ExAC,gnomAD
rs761639240	p.Pro133Ser	missense variant	-	NC_000004.12:g.145515010C>T	ExAC,gnomAD
rs535199231	p.Pro137Ala	missense variant	-	NC_000004.12:g.145539812C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs371393906	p.Val138Leu	missense variant	-	NC_000004.12:g.145539815G>T	ESP,ExAC,TOPMed,gnomAD
rs371393906	p.Val138Leu	missense variant	-	NC_000004.12:g.145539815G>C	ESP,ExAC,TOPMed,gnomAD
rs371393906	p.Val138Met	missense variant	-	NC_000004.12:g.145539815G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu139Val	missense variant	-	NC_000004.12:g.145539818C>G	NCI-TCGA
rs1434190878	p.Val140Ile	missense variant	-	NC_000004.12:g.145539821G>A	gnomAD
rs769593299	p.Pro141Ser	missense variant	-	NC_000004.12:g.145539824C>T	ExAC,gnomAD
rs769593299	p.Pro141Ala	missense variant	-	NC_000004.12:g.145539824C>G	ExAC,gnomAD
rs1425989959	p.Arg142Thr	missense variant	-	NC_000004.12:g.145539828G>C	gnomAD
rs762817927	p.Arg142Gly	missense variant	-	NC_000004.12:g.145539827A>G	ExAC,gnomAD
rs1383731571	p.His143Arg	missense variant	-	NC_000004.12:g.145539831A>G	TOPMed
COSM1051761	p.Ser144Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145539833A>G	NCI-TCGA Cosmic
COSM3600657	p.Glu145Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145539836G>A	NCI-TCGA Cosmic
rs1364163583	p.Tyr146Cys	missense variant	-	NC_000004.12:g.145539840A>G	TOPMed
rs118128857	p.Asn147Asp	missense variant	-	NC_000004.12:g.145539842A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs118128857	p.Asn147His	missense variant	-	NC_000004.12:g.145539842A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1347615676	p.Gln155Arg	missense variant	-	NC_000004.12:g.145539867A>G	TOPMed
rs775993323	p.Arg157Cys	missense variant	-	NC_000004.12:g.145539872C>T	ExAC,gnomAD
rs752342788	p.Arg157His	missense variant	-	NC_000004.12:g.145539873G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn158Ter	frameshift	-	NC_000004.12:g.145539873_145539874insT	NCI-TCGA
rs1201607497	p.Gly160Glu	missense variant	-	NC_000004.12:g.145539882G>A	gnomAD
rs1423413774	p.Pro164Leu	missense variant	-	NC_000004.12:g.145539894C>T	gnomAD
rs756441656	p.His165Gln	missense variant	-	NC_000004.12:g.145539898C>A	ExAC,TOPMed,gnomAD
rs1247999691	p.His165Arg	missense variant	-	NC_000004.12:g.145539897A>G	gnomAD
rs1386781473	p.Asn169Asp	missense variant	-	NC_000004.12:g.145539908A>G	TOPMed
COSM4122563	p.Ala170Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145539911G>A	NCI-TCGA Cosmic
rs1431189199	p.Thr171Ile	missense variant	-	NC_000004.12:g.145539915C>T	gnomAD
NCI-TCGA novel	p.Pro173Leu	missense variant	-	NC_000004.12:g.145539921C>T	NCI-TCGA
rs745997713	p.Gln177Arg	missense variant	-	NC_000004.12:g.145539933A>G	ExAC,gnomAD
rs758506902	p.Asn180Ser	missense variant	-	NC_000004.12:g.145539942A>G	ExAC,TOPMed,gnomAD
rs1367694929	p.Ser181Arg	missense variant	-	NC_000004.12:g.145539946C>G	TOPMed,gnomAD
rs1229406859	p.Pro183Thr	missense variant	-	NC_000004.12:g.145539950C>A	gnomAD
rs780172594	p.Pro183Leu	missense variant	-	NC_000004.12:g.145539951C>T	ExAC,TOPMed,gnomAD
rs574850101	p.Pro185Ser	missense variant	-	NC_000004.12:g.145539956C>T	1000Genomes,ExAC,gnomAD
rs749074021	p.His186Gln	missense variant	-	NC_000004.12:g.145539961C>G	ExAC,gnomAD
rs773114294	p.His186Tyr	missense variant	-	NC_000004.12:g.145539959C>T	ExAC,gnomAD
rs1055612175	p.Asn189Asp	missense variant	-	NC_000004.12:g.145539968A>G	TOPMed,gnomAD
rs770895114	p.Asn189Ser	missense variant	-	NC_000004.12:g.145539969A>G	ExAC,TOPMed
rs1055612175	p.Asn189Tyr	missense variant	-	NC_000004.12:g.145539968A>T	TOPMed,gnomAD
rs1294280347	p.Ser190Arg	missense variant	-	NC_000004.12:g.145539973C>G	TOPMed
rs1451013268	p.Ser190Asn	missense variant	-	NC_000004.12:g.145539972G>A	gnomAD
COSM732485	p.Ser190Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145539972G>C	NCI-TCGA Cosmic
rs774249301	p.Pro193Ser	missense variant	-	NC_000004.12:g.145539980C>T	ExAC,TOPMed,gnomAD
rs1384430349	p.Asn194His	missense variant	-	NC_000004.12:g.145539983A>C	gnomAD
rs1384430349	p.Asn194Asp	missense variant	-	NC_000004.12:g.145539983A>G	gnomAD
rs1341231187	p.Ser195Pro	missense variant	-	NC_000004.12:g.145539986T>C	TOPMed
rs1471708147	p.Pro196Ala	missense variant	-	NC_000004.12:g.145539989C>G	gnomAD
rs1164715949	p.Pro196Leu	missense variant	-	NC_000004.12:g.145539990C>T	gnomAD
COSM1427371	p.Gly197Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145539993G>T	NCI-TCGA Cosmic
rs537765824	p.Ser199Asn	missense variant	-	NC_000004.12:g.145539999G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs973432572	p.Pro204Ala	missense variant	-	NC_000004.12:g.145540013C>G	gnomAD
rs767011109	p.Pro207Ser	missense variant	-	NC_000004.12:g.145540022C>T	ExAC,gnomAD
rs775020524	p.Thr208Ile	missense variant	-	NC_000004.12:g.145540026C>T	ExAC,TOPMed,gnomAD
rs1314660957	p.Asp211His	missense variant	-	NC_000004.12:g.145540034G>C	gnomAD
rs993095324	p.Pro212Ser	missense variant	-	NC_000004.12:g.145540037C>T	TOPMed
rs1338883323	p.Gly213Glu	missense variant	-	NC_000004.12:g.145540041G>A	gnomAD
rs763649399	p.Ser214Gly	missense variant	-	NC_000004.12:g.145540043A>G	ExAC,gnomAD
rs762249726	p.Phe216Leu	missense variant	-	NC_000004.12:g.145540049T>C	ExAC,TOPMed,gnomAD
COSM3600658	p.Gln217Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.145540052C>T	NCI-TCGA Cosmic
rs765870228	p.Met218Ile	missense variant	-	NC_000004.12:g.145540057G>A	ExAC,TOPMed,gnomAD
rs765870228	p.Met218Ile	missense variant	-	NC_000004.12:g.145540057G>T	ExAC,TOPMed,gnomAD
rs754989497	p.Ala220Gly	missense variant	-	NC_000004.12:g.145542582C>G	ExAC,gnomAD
COSM6166350	p.Asp221Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145542585A>G	NCI-TCGA Cosmic
rs146960039	p.Thr222Met	missense variant	-	NC_000004.12:g.145542588C>T	ESP,ExAC,TOPMed,gnomAD
rs1385105737	p.Pro224Ser	missense variant	-	NC_000004.12:g.145542593C>T	gnomAD
rs1048829612	p.Pro224Leu	missense variant	-	NC_000004.12:g.145542594C>T	TOPMed,gnomAD
rs1048829612	p.Pro224Arg	missense variant	-	NC_000004.12:g.145542594C>G	TOPMed,gnomAD
rs778740344	p.Pro225Leu	missense variant	-	NC_000004.12:g.145542597C>T	ExAC,TOPMed,gnomAD
rs1375990946	p.Pro225Ser	missense variant	-	NC_000004.12:g.145542596C>T	gnomAD
rs745647196	p.Ala226Val	missense variant	-	NC_000004.12:g.145542600C>T	ExAC,TOPMed,gnomAD
rs1395975712	p.Pro229Ser	missense variant	-	NC_000004.12:g.145542608C>T	gnomAD
rs953331810	p.Pro229Leu	missense variant	-	NC_000004.12:g.145542609C>T	TOPMed,gnomAD
rs1310181065	p.Pro230His	missense variant	-	NC_000004.12:g.145542612C>A	gnomAD
rs1354619028	p.Pro230Ser	missense variant	-	NC_000004.12:g.145542611C>T	TOPMed
COSM6166349	p.Asp232His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145542617G>C	NCI-TCGA Cosmic
rs772087791	p.Met234Val	missense variant	-	NC_000004.12:g.145542623A>G	ExAC,gnomAD
rs1404877778	p.Met234Ile	missense variant	-	NC_000004.12:g.145542625G>C	gnomAD
rs746555376	p.Gln236Arg	missense variant	-	NC_000004.12:g.145542630A>G	ExAC,gnomAD
rs1256260063	p.Ser239Phe	missense variant	-	NC_000004.12:g.145542639C>T	gnomAD
NCI-TCGA novel	p.Gln240Ter	stop gained	-	NC_000004.12:g.145542641C>T	NCI-TCGA
rs768015552	p.Pro241Gln	missense variant	-	NC_000004.12:g.145542645C>A	ExAC,TOPMed,gnomAD
rs768015552	p.Pro241Arg	missense variant	-	NC_000004.12:g.145542645C>G	ExAC,TOPMed,gnomAD
rs768015552	p.Pro241Leu	missense variant	-	NC_000004.12:g.145542645C>T	ExAC,TOPMed,gnomAD
rs1190518044	p.Met242Arg	missense variant	-	NC_000004.12:g.145542648T>G	gnomAD
rs769553939	p.Met242Val	missense variant	-	NC_000004.12:g.145542647A>G	ExAC,gnomAD
rs773776278	p.Asp243Asn	missense variant	-	NC_000004.12:g.145542650G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp243Gly	missense variant	-	NC_000004.12:g.145542651A>G	NCI-TCGA
rs1434999063	p.Thr244Ser	missense variant	-	NC_000004.12:g.145542653A>T	gnomAD
rs1199617673	p.Thr244Ile	missense variant	-	NC_000004.12:g.145542654C>T	gnomAD
rs1434999063	p.Thr244Ala	missense variant	-	NC_000004.12:g.145542653A>G	gnomAD
rs1422525451	p.Met246Arg	missense variant	-	NC_000004.12:g.145542660T>G	TOPMed
rs563550038	p.Met246Ile	missense variant	-	NC_000004.12:g.145542661G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs147602934	p.Met246Leu	missense variant	-	NC_000004.12:g.145542659A>C	ESP,ExAC,TOPMed,gnomAD
rs563550038	p.Met246Ile	missense variant	-	NC_000004.12:g.145542661G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs147602934	p.Met246Leu	missense variant	-	NC_000004.12:g.145542659A>T	ESP,ExAC,TOPMed,gnomAD
rs1170950479	p.Met247Leu	missense variant	-	NC_000004.12:g.145542662A>T	gnomAD
rs1163799095	p.Met247Thr	missense variant	-	NC_000004.12:g.145542663T>C	TOPMed
rs376803119	p.Ala248Thr	missense variant	-	NC_000004.12:g.145542665G>A	ESP,ExAC,TOPMed,gnomAD
rs576994811	p.Ala248Val	missense variant	-	NC_000004.12:g.145542666C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs373778654	p.Pro249Arg	missense variant	-	NC_000004.12:g.145542669C>G	ESP,ExAC,gnomAD
rs750281442	p.Pro250Leu	missense variant	-	NC_000004.12:g.145542672C>T	ExAC,gnomAD
rs1276554181	p.Ser253Pro	missense variant	-	NC_000004.12:g.145542680T>C	gnomAD
rs1342577469	p.Ile255Val	missense variant	-	NC_000004.12:g.145542686A>G	gnomAD
rs1263640239	p.Arg257Thr	missense variant	-	NC_000004.12:g.145542693G>C	gnomAD
COSM586152	p.Arg257Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145542693G>A	NCI-TCGA Cosmic
rs1489391654	p.Gly258Arg	missense variant	-	NC_000004.12:g.145542695G>A	TOPMed,gnomAD
rs755635795	p.Asp259Gly	missense variant	-	NC_000004.12:g.145546703A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp259Asn	missense variant	-	NC_000004.12:g.145542698G>A	NCI-TCGA
rs199712561	p.Val260Gly	missense variant	-	NC_000004.12:g.145546706T>G	ExAC,TOPMed,gnomAD
rs959079905	p.Ala262Thr	missense variant	-	NC_000004.12:g.145546711G>A	TOPMed
rs1321891857	p.Ala262Val	missense variant	-	NC_000004.12:g.145546712C>T	gnomAD
rs1191031214	p.Val263Phe	missense variant	-	NC_000004.12:g.145546714G>T	gnomAD
rs1446834454	p.Ala264Ser	missense variant	-	NC_000004.12:g.145546717G>T	TOPMed,gnomAD
rs1300910971	p.Ala264Asp	missense variant	-	NC_000004.12:g.145546718C>A	gnomAD
rs1446834454	p.Ala264Thr	missense variant	-	NC_000004.12:g.145546717G>A	TOPMed,gnomAD
rs1198263549	p.Tyr265Phe	missense variant	-	NC_000004.12:g.145546721A>T	TOPMed
rs1381047432	p.Glu266Gly	missense variant	-	NC_000004.12:g.145546724A>G	gnomAD
NCI-TCGA novel	p.Glu266Gln	missense variant	-	NC_000004.12:g.145546723G>C	NCI-TCGA
rs771337852	p.Glu267Gln	missense variant	-	NC_000004.12:g.145546726G>C	ExAC,TOPMed,gnomAD
rs1287682168	p.Glu267Val	missense variant	-	NC_000004.12:g.145546727A>T	gnomAD
rs560551988	p.Pro268Gln	missense variant	-	NC_000004.12:g.145546730C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs772617220	p.Lys269Glu	missense variant	-	NC_000004.12:g.145546732A>G	ExAC,gnomAD
rs1311897697	p.His270Arg	missense variant	-	NC_000004.12:g.145546736A>G	gnomAD
rs1246770074	p.His270Asp	missense variant	-	NC_000004.12:g.145546735C>G	TOPMed,gnomAD
rs1239630304	p.Ser273Cys	missense variant	-	NC_000004.12:g.145546745C>G	gnomAD
rs775680669	p.Ile274Val	missense variant	-	NC_000004.12:g.145546747A>G	TOPMed
rs1181856908	p.Val275Ala	missense variant	-	NC_000004.12:g.145546751T>C	TOPMed,gnomAD
rs1181856908	p.Val275Gly	missense variant	-	NC_000004.12:g.145546751T>G	TOPMed,gnomAD
COSM4122564	p.Asn280Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145546766A>G	NCI-TCGA Cosmic
rs61748163	p.Asn281Ser	missense variant	-	NC_000004.12:g.145546769A>G	ESP,ExAC,TOPMed,gnomAD
rs768660491	p.Arg282Cys	missense variant	-	NC_000004.12:g.145546771C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg282Ser	missense variant	-	NC_000004.12:g.145546771C>A	NCI-TCGA
COSM1427375	p.Ala286Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145546784C>T	NCI-TCGA Cosmic
rs143636122	p.His288Arg	missense variant	-	NC_000004.12:g.145546790A>G	ESP,ExAC,TOPMed,gnomAD
rs1415173599	p.Ala289Thr	missense variant	-	NC_000004.12:g.145546792G>A	gnomAD
rs1401631127	p.Ser291Pro	missense variant	-	NC_000004.12:g.145546798T>C	TOPMed
rs1401631127	p.Ser291Thr	missense variant	-	NC_000004.12:g.145546798T>A	TOPMed
rs376805776	p.Ser291Cys	missense variant	-	NC_000004.12:g.145546799C>G	ESP,ExAC,TOPMed,gnomAD
rs376805776	p.Ser291Phe	missense variant	-	NC_000004.12:g.145546799C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp297Asn	missense variant	-	NC_000004.12:g.145546816G>A	NCI-TCGA
COSM3600659	p.Pro302Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145546831C>T	NCI-TCGA Cosmic
rs1173891246	p.Lys306Arg	missense variant	-	NC_000004.12:g.145546844A>G	TOPMed,gnomAD
COSM1485713	p.Lys306Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145546845G>C	NCI-TCGA Cosmic
rs375411684	p.Asn307Lys	missense variant	-	NC_000004.12:g.145546848C>G	ESP,ExAC,TOPMed,gnomAD
rs777087139	p.Leu314Phe	missense variant	-	NC_000004.12:g.145546867C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn318Asp	missense variant	-	NC_000004.12:g.145546879A>G	NCI-TCGA
NCI-TCGA novel	p.Arg319Gln	missense variant	-	NC_000004.12:g.145546883G>A	NCI-TCGA
NCI-TCGA novel	p.Asn320ValPheSerTerUnk	frameshift	-	NC_000004.12:g.145546883_145546884insTGTT	NCI-TCGA
rs1204905977	p.Thr322Ile	missense variant	-	NC_000004.12:g.145546892C>T	gnomAD
rs960797999	p.His335Tyr	missense variant	-	NC_000004.12:g.145553789C>T	TOPMed,gnomAD
rs199965141	p.Leu336Val	missense variant	-	NC_000004.12:g.145553792C>G	ExAC,TOPMed,gnomAD
rs1168211211	p.Val339Gly	missense variant	-	NC_000004.12:g.145553802T>G	gnomAD
rs1451132964	p.Val339Phe	missense variant	-	NC_000004.12:g.145553801G>T	gnomAD
COSM3428206	p.Ala345Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145553820C>T	NCI-TCGA Cosmic
rs750014334	p.Glu346Lys	missense variant	-	NC_000004.12:g.145553822G>A	ExAC,gnomAD
rs1325661130	p.Ser349Gly	missense variant	-	NC_000004.12:g.145553831A>G	gnomAD
NCI-TCGA novel	p.Ser349LysPheSerTerUnk	frameshift	-	NC_000004.12:g.145553830_145553831insA	NCI-TCGA
rs758779528	p.Ser351Gly	missense variant	-	NC_000004.12:g.145553837A>G	ExAC,gnomAD
rs1295720261	p.Val355Met	missense variant	-	NC_000004.12:g.145553849G>A	gnomAD
COSM3600660	p.Gln356Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.145553852C>T	NCI-TCGA Cosmic
rs200152891	p.Tyr362Cys	missense variant	-	NC_000004.12:g.145553871A>G	ESP,ExAC,TOPMed,gnomAD
rs748195491	p.His363Arg	missense variant	-	NC_000004.12:g.145553874A>G	ExAC,gnomAD
NCI-TCGA novel	p.His364Asp	missense variant	-	NC_000004.12:g.145553876C>G	NCI-TCGA
rs1230494067	p.Gly365Glu	missense variant	-	NC_000004.12:g.145553880G>A	gnomAD
rs769874336	p.His367Tyr	missense variant	-	NC_000004.12:g.145553885C>T	ExAC
rs142898460	p.Thr370Ala	missense variant	-	NC_000004.12:g.145553894A>G	1000Genomes,ExAC,gnomAD
rs1247730282	p.Pro375Ser	missense variant	-	NC_000004.12:g.145553909C>T	TOPMed
rs771262658	p.Pro375Arg	missense variant	-	NC_000004.12:g.145553910C>G	ExAC,gnomAD
rs771262658	p.Pro375His	missense variant	-	NC_000004.12:g.145553910C>A	ExAC,gnomAD
rs775491520	p.Ser376Asn	missense variant	-	NC_000004.12:g.145553913G>A	ExAC,gnomAD
rs1193701780	p.Cys378Tyr	missense variant	-	NC_000004.12:g.145553919G>A	gnomAD
rs1367670594	p.Ser379Gly	missense variant	-	NC_000004.12:g.145553921A>G	gnomAD
rs772196472	p.Ser379Asn	missense variant	-	NC_000004.12:g.145553922G>A	TOPMed,gnomAD
COSM3993487	p.Ile382Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145553932T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile382Asn	missense variant	-	NC_000004.12:g.145553931T>A	NCI-TCGA
rs1164957793	p.Phe383Val	missense variant	-	NC_000004.12:g.145553933T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Phe383LeuPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.145553931T>-	NCI-TCGA
rs1418440746	p.Glu387Gln	missense variant	-	NC_000004.12:g.145553945G>C	gnomAD
rs763962403	p.Ala389Gly	missense variant	-	NC_000004.12:g.145553952C>G	ExAC,gnomAD
rs776592095	p.Ala393Val	missense variant	-	NC_000004.12:g.145553964C>T	ExAC
rs1266724381	p.Gln394Glu	missense variant	-	NC_000004.12:g.145553966C>G	gnomAD
NCI-TCGA novel	p.Asn397Ser	missense variant	-	NC_000004.12:g.145553976A>G	NCI-TCGA
rs1339052741	p.His398Tyr	missense variant	-	NC_000004.12:g.145553978C>T	gnomAD
rs922253917	p.Thr402Ile	missense variant	-	NC_000004.12:g.145553991C>T	TOPMed,gnomAD
rs758115726	p.Thr407Ile	missense variant	-	NC_000004.12:g.145554006C>T	ExAC,gnomAD
rs765987226	p.Met409Thr	missense variant	-	NC_000004.12:g.145554012T>C	ExAC,gnomAD
rs1265677985	p.Met409Val	missense variant	-	NC_000004.12:g.145554011A>G	gnomAD
rs549602822	p.Ile412Val	missense variant	-	NC_000004.12:g.145554020A>G	1000Genomes,ExAC,gnomAD
COSM1051764	p.Arg413Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145554023C>T	NCI-TCGA Cosmic
rs781576677	p.Met414Val	missense variant	-	NC_000004.12:g.145554026A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met414Ile	missense variant	-	NC_000004.12:g.145554028G>C	NCI-TCGA
rs1361044988	p.Phe416Leu	missense variant	-	NC_000004.12:g.145554034T>G	TOPMed
rs748617717	p.Phe416Leu	missense variant	-	NC_000004.12:g.145554032T>C	ExAC,gnomAD
rs756161358	p.Lys418Arg	missense variant	-	NC_000004.12:g.145554039A>G	ExAC,gnomAD
rs1341223587	p.Gly421Arg	missense variant	-	NC_000004.12:g.145557797G>C	gnomAD
rs757373765	p.Val429Ile	missense variant	-	NC_000004.12:g.145557821G>A	ExAC,gnomAD
rs1043517752	p.Pro433Thr	missense variant	-	NC_000004.12:g.145557833C>A	TOPMed
rs902463763	p.Ile436Leu	missense variant	-	NC_000004.12:g.145557842A>C	TOPMed
COSM5695169	p.Ile438Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145557848A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.His439Arg	missense variant	-	NC_000004.12:g.145557852A>G	NCI-TCGA
COSM732484	p.Leu440Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145557854C>G	NCI-TCGA Cosmic
rs746045655	p.His441Tyr	missense variant	-	NC_000004.12:g.145557857C>T	ExAC,TOPMed
rs1455775916	p.Gly442Asp	missense variant	-	NC_000004.12:g.145557861G>A	gnomAD
rs866688396	p.Gly442Ser	missense variant	-	NC_000004.12:g.145557860G>A	TOPMed
COSM6099202	p.Gly442Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.145557860G>T	NCI-TCGA Cosmic
rs1389741545	p.Gln445Leu	missense variant	-	NC_000004.12:g.145557870A>T	TOPMed,gnomAD
rs769775136	p.Asp448Glu	missense variant	-	NC_000004.12:g.145557880T>G	ExAC,gnomAD
rs747867801	p.Asp448Gly	missense variant	-	NC_000004.12:g.145557879A>G	ExAC,gnomAD
rs1457839327	p.Lys449Gln	missense variant	-	NC_000004.12:g.145557881A>C	gnomAD
rs1249030519	p.Leu451Ile	missense variant	-	NC_000004.12:g.145557887C>A	TOPMed
rs770357649	p.Asn459Asp	missense variant	-	NC_000004.12:g.145557911A>G	ExAC,gnomAD
rs773885137	p.Ile461Val	missense variant	-	NC_000004.12:g.145557917A>G	ExAC,gnomAD
NCI-TCGA novel	p.Val464Leu	missense variant	-	NC_000004.12:g.145557926G>T	NCI-TCGA
NCI-TCGA novel	p.Ser465Phe	missense variant	-	NC_000004.12:g.145557930C>T	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0002793	Anaplasia	disease	BEFREE
C0005699	Blast Phase	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006413	Burkitt Lymphoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0011881	Diabetic Nephropathy	disease	BEFREE
C0016037	Fibrodysplasia Ossificans Progressiva	disease	BEFREE
C0016057	Fibrosarcoma	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0017658	Glomerulonephritis	disease	RGD
C0018206	granulosa cell tumor	disease	BEFREE
C0018801	Heart failure	disease	BEFREE
C0018802	Congestive heart failure	disease	BEFREE
C0020542	Pulmonary Hypertension	phenotype	RGD
C0021364	Male infertility	disease	RGD
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023470	Myeloid Leukemia	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023474	Leukemia, Myeloid, Chronic-Phase	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024121	Lung Neoplasms	group	LHGDN
C0024299	Lymphoma	group	BEFREE
C0024301	Lymphoma, Follicular	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025286	Meningioma	disease	BEFREE
C0026691	Mucocutaneous Lymph Node Syndrome	disease	BEFREE
C0027051	Myocardial Infarction	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027726	Nephrotic Syndrome	group	RGD
C0027831	Neurofibromatosis 1	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029410	Osteoarthritis of hip	disease	BEFREE
C0029417	Osteoblastoma	disease	BEFREE
C0029463	Osteosarcoma	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	LHGDN
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE
C0036421	Systemic Scleroderma	disease	BEFREE
C0038454	Cerebrovascular accident	group	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0079744	Diffuse Large B-Cell Lymphoma	disease	BEFREE
C0151650	Renal fibrosis	disease	BEFREE
C0152021	Congenital heart disease	group	BEFREE
C0220620	Gastrointestinal Carcinoid Tumor	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0263630	Hypertrophic disorder of skin, unspecified	group	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0344530	Congenital keratoglobus	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0747102	Ovarian failure	disease	BEFREE
C0751690	Malignant Peripheral Nerve Sheath Tumor	disease	BEFREE
C0949690	Spondylarthritis	disease	BEFREE
C0949691	Spondylarthropathies	group	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1762616	Meningioma, benign, no ICD-O subtype	disease	BEFREE
C1839259	Bulbo-Spinal Atrophy, X-Linked	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2973725	Pulmonary arterial hypertension	disease	GENOMICS_ENGLAND
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE;GENOMICS_ENGLAND
C4048328	cervical cancer	disease	BEFREE
C4054891	Grade III Chondrosarcoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA
GO:0003700	DNA-binding transcription factor activity	IDA
GO:0005515	protein binding	IPI
GO:0017151	DEAD/H-box RNA helicase binding	IPI
GO:0019901	protein kinase binding	IPI
GO:0030618	transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	TAS
GO:0042802	identical protein binding	IPI
GO:0046872	metal ion binding	IEA
GO:0070410	co-SMAD binding	IPI
GO:0070411	I-SMAD binding	IPI
GO:0070878	primary miRNA binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000165	MAPK cascade	IEA
GO:0001657	ureteric bud development	IEA
GO:0001710	mesodermal cell fate commitment	IEA
GO:0002051	osteoblast fate commitment	IEA
GO:0006954	inflammatory response	IEA
GO:0007165	signal transduction	NAS
GO:0007179	transforming growth factor beta receptor signaling pathway	NAS
GO:0007183	SMAD protein complex assembly	IDA
GO:0007276	gamete generation	IEA
GO:0008285	negative regulation of cell population proliferation	IEA
GO:0009880	embryonic pattern specification	ISS
GO:0010628	positive regulation of gene expression	IDA
GO:0016579	protein deubiquitination	TAS
GO:0030509	BMP signaling pathway	ISS
GO:0030509	BMP signaling pathway	IDA
GO:0030509	BMP signaling pathway	TAS
GO:0030509	BMP signaling pathway	IMP
GO:0030901	midbrain development	IEA
GO:0030902	hindbrain development	IEA
GO:0031053	primary miRNA processing	TAS
GO:0042592	homeostatic process	IEA
GO:0045669	positive regulation of osteoblast differentiation	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA
GO:0045944	positive regulation of transcription by RNA polymerase II	IC
GO:0051216	cartilage development	IEA
GO:0060038	cardiac muscle cell proliferation	IEA
GO:0060348	bone development	IEA
GO:0060395	SMAD protein signal transduction	ISS
GO:0060395	SMAD protein signal transduction	NAS
GO:0061036	positive regulation of cartilage development	IEA
GO:0071407	cellular response to organic cyclic compound	IEA
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	ISS
GO:1902895	positive regulation of pri-miRNA transcription by RNA polymerase II	IEA
GO:1903672	positive regulation of sprouting angiogenesis	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	ISS
GO:0005634	nucleus	TAS
GO:0005634	nucleus	IDA
GO:0005634	nucleus	NAS
GO:0005637	nuclear inner membrane	IDA
GO:0005654	nucleoplasm	TAS
GO:0005667	transcription factor complex	IEA
GO:0005737	cytoplasm	ISS
GO:0005737	cytoplasm	IDA
GO:0005829	cytosol	TAS
GO:0016021	integral component of membrane	NAS
GO:0032991	protein-containing complex	IDA
GO:0071141	SMAD protein complex	NAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-201451	Signaling by BMP	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-5688426	Deubiquitination	TAS
R-HSA-5689880	Ub-specific processing proteases	TAS
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8878166	Transcriptional regulation by RUNX2	TAS
R-HSA-8941326	RUNX2 regulates bone development	TAS
R-HSA-9006936	Signaling by TGF-beta family members	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of SMAD1 mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SMAD1 mRNA	28628672
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of SMAD1 mRNA	20230807
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	[Caffeine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of SMAD1 mRNA	20230807
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	Caffeine inhibits the reaction [1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of SMAD1 mRNA]	20230807
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	[Nicotine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of SMAD1 mRNA	20230807
D015632	1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine	Nicotine inhibits the reaction [1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of SMAD1 mRNA]	20230807
C532162	2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	[PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in increased expression of SMAD1 mRNA	20453058
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of SMAD1 mRNA	21346803
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of SMAD1 mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of SMAD1 mRNA	27188386
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal results in decreased expression of SMAD1 mRNA	12419474
D000078223	5-Methoxypsoralen	5-Methoxypsoralen results in increased phosphorylation of SMAD1 protein	17980360
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SMAD1 mRNA	19150397; 20382639;
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of SMAD1 mRNA	22485181
C496492	abrine	abrine results in increased expression of SMAD1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of SMAD1 mRNA	17562736
D000082	Acetaminophen	Acetaminophen results in decreased phosphorylation of [SMAD1 protein binds to SMAD5 protein binds to SMAD9 protein]	22610607
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of SMAD1 mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of SMAD1 mRNA]	17585979
D020106	Acrylamide	Acrylamide results in decreased expression of SMAD1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of SMAD1 gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of SMAD1 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of SMAD1 mRNA	24449571
C000228	aristolochic acid I	aristolochic acid I results in decreased expression of SMAD1 protein modified form	22525892
C000228	aristolochic acid I	GREM1 mutant form inhibits the reaction [aristolochic acid I results in decreased expression of SMAD1 protein modified form]	22525892
D001151	Arsenic	Arsenic affects the expression of SMAD1 protein	24675094
D001151	Arsenic	Arsenic results in increased phosphorylation of SMAD1 protein	28903487
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of SMAD1 mRNA	15761015
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of SMAD1 mRNA	29633893
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased phosphorylation of SMAD1 protein	17975199
D001205	Ascorbic Acid	[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of SMAD1 mRNA	26492236
D001205	Ascorbic Acid	N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride inhibits the reaction [[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of SMAD1 mRNA]	26492236
C006650	aucubin	aucubin results in increased expression of SMAD1 protein	29408431
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SMAD1 mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of SMAD1 mRNA	22228805
C031463	beta-glycerophosphoric acid	[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of SMAD1 mRNA	26492236
C031463	beta-glycerophosphoric acid	N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride inhibits the reaction [[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of SMAD1 mRNA]	26492236
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of SMAD1 mRNA	28628672
C006780	bisphenol A	bisphenol A affects the expression of SMAD1 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the methylation of SMAD1 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of SMAD1 mRNA	26063408
C006780	bisphenol A	bisphenol A results in increased phosphorylation of and results in increased activity of SMAD1 protein	16860915; 17210262;
C006780	bisphenol A	Tamoxifen inhibits the reaction [bisphenol A results in increased phosphorylation of and results in increased activity of SMAD1 protein]	16860915
C006780	bisphenol A	bisphenol A results in increased expression of SMAD1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of SMAD1 gene	28505145
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SMAD1 mRNA	28628672
D002110	Caffeine	[Caffeine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of SMAD1 mRNA	20230807
D002110	Caffeine	Caffeine inhibits the reaction [1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of SMAD1 mRNA]	20230807
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of and results in increased localization of and results in increased activity of SMAD1 protein	17525996
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of SMAD1 mRNA	17525996
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of SMAD1 protein	17158861
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased phosphorylation of SMAD1 protein	17158861
D002331	Carnitine	Carnitine inhibits the reaction [perfluorooctanoic acid results in decreased expression of SMAD1 protein modified form]	29800642
C054133	casticin	casticin results in increased expression of SMAD1 mRNA	27862857
D002713	Chlorine	[Ozone co-treated with Chlorine] results in decreased expression of SMAD1 mRNA	18636392
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of SMAD1 mRNA	23650126
D002762	Cholecalciferol	Cholecalciferol results in increased expression of SMAD1 mRNA	17170073
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of SMAD1 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of SMAD1 mRNA]	17585979
D002995	Clofibric Acid	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of SMAD1 mRNA	17602206
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of SMAD1 mRNA	19320972
D003042	Cocaine	[Cocaine co-treated with Cocaine deficiency] inhibits the reaction [SMURF1 protein binds to SMAD1 protein modified form]	30158054
D003042	Cocaine	[Cocaine co-treated with Cocaine deficiency] results in decreased ubiquitination of SMAD1 protein modified form	30158054
D003042	Cocaine	[Cocaine co-treated with Cocaine deficiency] results in increased expression of and results in increased phosphorylation of SMAD1 protein	30158054
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of SMAD1 mRNA	19549813
D015638	Cytochalasin D	Cytochalasin D affects the localization of SMAD1 protein	25756282
D003703	Demecolcine	Demecolcine results in increased expression of SMAD1 mRNA	23649840
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of SMAD1 mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SMAD1 mRNA	28628672
D003907	Dexamethasone	[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of SMAD1 mRNA	26492236
D003907	Dexamethasone	N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride inhibits the reaction [[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of SMAD1 mRNA]	26492236
D004008	Diclofenac	Diclofenac results in increased expression of SMAD1 mRNA	26934552
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of SMAD1 mRNA	17602206
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of SMAD1 mRNA	20360939
C516138	dorsomorphin	dorsomorphin inhibits the reaction [GDF2 protein results in increased phosphorylation of SMAD1 protein]	23936038
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of SMAD1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of SMAD1 mRNA	29803840
C118739	entinostat	entinostat results in decreased expression of SMAD1 mRNA	27188386
D004791	Enzyme Inhibitors	Enzyme Inhibitors inhibits the reaction [SMURF1 protein results in increased degradation of SMAD1 protein]	30587574
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of SMAD1 mRNA	22079256
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of SMAD1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMAD1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of SMAD1 mRNA	23129252
D017313	Fenretinide	Fenretinide results in increased expression of SMAD1 mRNA	28973697
D005473	Fluoxetine	Fluoxetine inhibits the reaction [Monocrotaline results in decreased expression of SMAD1 mRNA]	21619414
D005473	Fluoxetine	Fluoxetine inhibits the reaction [Monocrotaline results in decreased phosphorylation of SMAD1 protein]	21619414
C037032	galangin	galangin results in increased expression of SMAD1 mRNA	25268046
C037032	galangin	galangin results in increased phosphorylation of SMAD1 protein	25268046
C037032	galangin	LY2109761 inhibits the reaction [galangin results in increased phosphorylation of SMAD1 protein]	25268046
C082359	imidacloprid	imidacloprid results in decreased expression of SMAD1 protein	27444676
C031534	imperatorin	imperatorin results in increased phosphorylation of SMAD1 protein	17980360
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of SMAD1 mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of SMAD1 mRNA	28628672
D007545	Isoproterenol	Isoproterenol results in decreased expression of SMAD1 mRNA	21335049
C554430	LDN 193189	LDN 193189 inhibits the reaction [GDF2 protein results in increased phosphorylation of SMAD1 protein]	23936038
C008261	lead acetate	lead acetate inhibits the reaction [BMP2 protein results in increased phosphorylation of SMAD1 protein]	17805416
D000077339	Leflunomide	Leflunomide results in increased expression of SMAD1 mRNA	28988120
D008070	Lipopolysaccharides	SMAD1 protein promotes the reaction [Lipopolysaccharides results in increased expression of TNF protein]	21131441
C530108	LY2109761	LY2109761 inhibits the reaction [galangin results in increased phosphorylation of SMAD1 protein]	25268046
C530108	LY2109761	LY2109761 inhibits the reaction [TGFB1 protein results in increased expression of SMAD1 protein modified form]	30008374
C530108	LY2109761	LY2109761 results in decreased expression of SMAD1 protein modified form	30008374
D016686	Monocrotaline	Fluoxetine inhibits the reaction [Monocrotaline results in decreased expression of SMAD1 mRNA]	21619414
D016686	Monocrotaline	Fluoxetine inhibits the reaction [Monocrotaline results in decreased phosphorylation of SMAD1 protein]	21619414
D016686	Monocrotaline	Monocrotaline results in decreased expression of SMAD1 mRNA	21619414
D016686	Monocrotaline	Monocrotaline results in decreased phosphorylation of SMAD1 protein	21619414
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of SMAD1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of SMAD1 mRNA	25554681
C022838	nickel chloride	nickel chloride results in increased expression of SMAD1 mRNA	30055191
C022838	nickel chloride	sodium bisulfide inhibits the reaction [nickel chloride results in increased expression of SMAD1 protein]	30055191
D009538	Nicotine	[Nicotine co-treated with 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine] results in increased expression of SMAD1 mRNA	20230807
D009538	Nicotine	Nicotine inhibits the reaction [1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine results in increased expression of SMAD1 mRNA]	20230807
C434926	N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride	N-(oxo-5,6-dihydrophenanthridin-2-yl)-N,N-dimethylacetamide hydrochloride inhibits the reaction [[Ascorbic Acid co-treated with Dexamethasone co-treated with beta-glycerophosphoric acid] results in increased expression of SMAD1 mRNA]	26492236
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of SMAD1 mRNA	25729387
D010126	Ozone	[Ozone co-treated with Chlorine] results in decreased expression of SMAD1 mRNA	18636392
D010269	Paraquat	Paraquat results in increased expression of SMAD1 mRNA	12595580
C008776	pelargonic acid	pelargonic acid results in increased expression of SMAD1 mRNA	11379042
C023036	perfluorooctanoic acid	Carnitine inhibits the reaction [perfluorooctanoic acid results in decreased expression of SMAD1 protein modified form]	29800642
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of SMAD1 protein modified form	29800642
C011272	perfosfamide	perfosfamide results in decreased expression of SMAD1 mRNA	19429390
D010634	Phenobarbital	Phenobarbital affects the expression of SMAD1 mRNA	23091169
D010852	Picrotoxin	Picrotoxin results in decreased expression of SMAD1 mRNA	15170462
C006253	pirinixic acid	pirinixic acid results in decreased expression of SMAD1 mRNA	20813756
C006253	pirinixic acid	pirinixic acid results in increased expression of SMAD1 mRNA	19162173
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of SMAD1 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of SMAD1 mRNA	22079256
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of SMAD1 mRNA	28903501
C045950	propiconazole	propiconazole results in decreased expression of SMAD1 mRNA	21278054
D011692	Puromycin Aminonucleoside	Puromycin Aminonucleoside results in increased expression of SMAD1 mRNA	17803470
D000077185	Resveratrol	Resveratrol results in increased phosphorylation of SMAD1 protein	21745208
C009172	rhodioloside	rhodioloside results in increased expression of SMAD1 mRNA	24929042
C009172	rhodioloside	rhodioloside results in increased phosphorylation of and results in increased expression of SMAD1 protein	24929042
D019821	Simvastatin	Simvastatin inhibits the reaction [TNF inhibits the reaction [BMP2 results in increased phosphorylation of SMAD1 protein]]	18310456
D019821	Simvastatin	Simvastatin results in increased expression of SMAD1 mRNA	18310456
D019821	Simvastatin	Simvastatin results in increased phosphorylation of SMAD1 protein	20417880
C439060	sirtinol	sirtinol results in decreased phosphorylation of SMAD1 protein	21745208
C017947	sodium arsenite	EGF protein promotes the reaction [sodium arsenite inhibits the reaction [BMP6 protein results in increased phosphorylation of SMAD1 protein]]	23566955
C017947	sodium arsenite	sodium arsenite inhibits the reaction [BMP6 protein results in increased phosphorylation of SMAD1 protein]	23566955
C017947	sodium arsenite	sodium arsenite results in increased expression of SMAD1 mRNA	12760830
C017947	sodium arsenite	sodium arsenite results in increased expression of SMAD1 mRNA	16014739
C025451	sodium bisulfide	sodium bisulfide inhibits the reaction [nickel chloride results in increased expression of SMAD1 protein]	30055191
C025451	sodium bisulfide	sodium bisulfide inhibits the reaction [TGFB1 protein results in increased expression of SMAD1 protein]	30055191
D012999	Soman	Soman results in increased expression of SMAD1 mRNA	19281266
D013311	Streptozocin	Streptozocin results in increased expression of SMAD1	25617480
D013629	Tamoxifen	Tamoxifen inhibits the reaction [bisphenol A results in increased phosphorylation of and results in increased activity of SMAD1 protein]	16860915
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of SMAD1 mRNA	12419474
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of SMAD1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMAD1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of SMAD1 mRNA	24058054
D013853	Thioacetamide	Thioacetamide results in increased expression of SMAD1 mRNA	23411599
D014051	Toluene 2,4-Diisocyanate	Toluene 2,4-Diisocyanate results in decreased expression of SMAD1 mRNA	11379042
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of SMAD1 mRNA	25729387
D014212	Tretinoin	Tretinoin results in increased expression of SMAD1 protein	19058293
D014212	Tretinoin	Tretinoin results in increased phosphorylation of SMAD1 protein	19058293
C012589	trichostatin A	trichostatin A results in increased expression of SMAD1 mRNA	15901671
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of SMAD1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of SMAD1 mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in decreased expression of SMAD1 mRNA	29596926
D014635	Valproic Acid	Valproic Acid results in increased expression of SMAD1 mRNA	15901671
D014635	Valproic Acid	Valproic Acid affects the expression of SMAD1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of SMAD1 mRNA	23179753; 24383497; 25192806; 27188386; 28001369; 29154799;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of SMAD1 gene	29154799
C066075	vanadium pentoxide	vanadium pentoxide results in decreased expression of SMAD1 mRNA	17459161
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of SMAD1 gene	25560391
C025643	vinclozolin	vinclozolin results in decreased expression of SMAD1 mRNA	23034163
C025643	vinclozolin	vinclozolin results in increased expression of SMAD1 mRNA	22615374
D014750	Vincristine	Vincristine results in increased expression of SMAD1 mRNA	23649840
D015032	Zinc	Zinc results in increased phosphorylation of SMAD1 protein	22228435

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0903	Direct protein sequencing
KW-0238	DNA-binding
KW-0479	Metal-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0832	Ubl conjugation
KW-0862	Zinc

Interpro

InterPro ID	InterPro Term
IPR013790	Dwarfin
IPR003619	MAD_homology1_Dwarfin-type
IPR013019	MAD_homology_MH1
IPR017855	SMAD-like_dom_sf
IPR001132	SMAD_dom_Dwarfin-type
IPR008984	SMAD_FHA_dom_sf
IPR036578	SMAD_MH1_sf

PROSITE

PROSITE ID	PROSITE Term
PS51075	MH1
PS51076	MH2

Pfam

Pfam ID	Pfam Term
PF03165	MH1
PF03166	MH2

Gene: SMAD1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction