CleftGeneDB-Search

Gene: PITX1

Basic information

Tag	Content
Uniprot ID	P78337; A8K3M0; D3DQB0; O14677; O60425; Q9BTI5;
Entrez ID	5307
Genbank protein ID	AAB65251.1; EAW62226.1; AAH03685.1; AAC17733.1; AAH09412.1; EAW62227.1; BAF83324.1; AAC51126.1;
Genbank nucleotide ID	NM_002653.4
Ensembl protein ID	ENSP00000265340; ENSP00000427542;
Ensembl nucleotide ID	ENSG00000069011
Gene name	Pituitary homeobox 1
Gene symbol	PITX1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Sequence-specific transcription factor that binds gene promoters and activates their transcription. May play a role in the development of anterior structures, and in particular, the brain and facies and in specifying the identity or structure of hindlimb.
Sequence	MDAFKGGMSL ERLPEGLRPP PPPPHDMGPA FHLARPADPR EPLENSASES SDTELPEKER 60 GGEPKGPEDS GAGGTGCGGA DDPAKKKKQR RQRTHFTSQQ LQELEATFQR NRYPDMSMRE 120 EIAVWTNLTE PRVRVWFKNR RAKWRKRERN QQLDLCKGGY VPQFSGLVQP YEDVYAAGYS 180 YNNWAAKSLA PAPLSTKSFT FFNSMSPLSS QSMFSAPSSI SSMTMPSSMG PGAVPGMPNS 240 GLNNINNLTG SSLNSAMSPG ACPYGTPASP YSVYRDTCNS SLASLRLKSK QHSSFGYGGL 300 QGPASGLNAC QYNS 314

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	PITX1	508754	F1MU46			Bos taurus	Prediction	More>>
1:1 ortholog	PITX1	481513	E2RRG5			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PITX1	102181864	A0A452DRM8			Capra hircus	Prediction	More>>
1:1 ortholog	PITX1	5307	P78337			Homo sapiens	Prediction	More>>
1:1 ortholog	Pitx1	18740	P70314	CPO	E12.5, E13.5, E14.5, E15.5	Mus musculus	Publication	More>>
1:1 ortholog	PITX1	462072	A0A2J8LRP3			Pan troglodytes	Prediction	More>>
1:1 ortholog	PITX1	100689266	F8SIP6			Sus scrofa	Prediction	More>>
1:1 ortholog	Pitx1	113983	Q99NA7			Rattus norvegicus	Prediction	More>>
1:1 ortholog	pitx1		B2LT56			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1225728215	p.Asp2Asn	missense variant	-	NC_000005.10:g.135033878C>T	TOPMed
rs574730283	p.Ala3Thr	missense variant	-	NC_000005.10:g.135033875C>T	1000Genomes,ExAC,gnomAD
rs748627311	p.Ala3Val	missense variant	-	NC_000005.10:g.135033874G>A	ExAC,gnomAD
rs574730283	p.Ala3Ser	missense variant	-	NC_000005.10:g.135033875C>A	1000Genomes,ExAC,gnomAD
rs553290196	p.Gly6Arg	missense variant	-	NC_000005.10:g.135033866C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1256022922	p.Gly6Ala	missense variant	-	NC_000005.10:g.135033865C>G	TOPMed
rs553290196	p.Gly6Arg	missense variant	-	NC_000005.10:g.135033866C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1300560831	p.Gly7Val	missense variant	-	NC_000005.10:g.135033862C>A	TOPMed,gnomAD
rs1300560831	p.Gly7Asp	missense variant	-	NC_000005.10:g.135033862C>T	TOPMed,gnomAD
rs1441167153	p.Gly7Cys	missense variant	-	NC_000005.10:g.135033863C>A	TOPMed
rs780936376	p.Ser9Asn	missense variant	-	NC_000005.10:g.135033856C>T	ExAC,gnomAD
rs942423669	p.Glu11Gly	missense variant	-	NC_000005.10:g.135033850T>C	TOPMed,gnomAD
rs1166881422	p.Arg12Gly	missense variant	-	NC_000005.10:g.135033848G>C	TOPMed
rs535018917	p.Leu13Val	missense variant	-	NC_000005.10:g.135033845G>C	1000Genomes,TOPMed,gnomAD
rs564413063	p.Pro14Ala	missense variant	-	NC_000005.10:g.135033842G>C	TOPMed,gnomAD
rs1454748987	p.Gly16Trp	missense variant	-	NC_000005.10:g.135033836C>A	gnomAD
rs1399864891	p.Pro19Arg	missense variant	-	NC_000005.10:g.135033826G>C	TOPMed
rs751390239	p.Pro21Ser	missense variant	-	NC_000005.10:g.135033821G>A	ExAC,gnomAD
rs763753483	p.Pro23Leu	missense variant	-	NC_000005.10:g.135033814G>A	ExAC,gnomAD
rs758332384	p.His25Pro	missense variant	-	NC_000005.10:g.135033808T>G	ExAC,gnomAD
rs1277707678	p.His25Tyr	missense variant	-	NC_000005.10:g.135033809G>A	gnomAD
rs1312444477	p.Gly28Trp	missense variant	-	NC_000005.10:g.135033800C>A	TOPMed
rs765150075	p.Ala30Thr	missense variant	-	NC_000005.10:g.135033794C>T	ExAC,gnomAD
rs1326372885	p.Phe31Leu	missense variant	-	NC_000005.10:g.135033789G>T	gnomAD
rs1354010951	p.Ala34Thr	missense variant	-	NC_000005.10:g.135033782C>T	gnomAD
rs1312487179	p.Ala34Asp	missense variant	-	NC_000005.10:g.135033781G>T	gnomAD
rs776544846	p.Arg35Gly	missense variant	-	NC_000005.10:g.135033779G>C	ExAC,TOPMed,gnomAD
rs1377286597	p.Arg35Pro	missense variant	-	NC_000005.10:g.135033778C>G	TOPMed,gnomAD
rs1377286597	p.Arg35Gln	missense variant	-	NC_000005.10:g.135033778C>T	TOPMed,gnomAD
rs776544846	p.Arg35Trp	missense variant	-	NC_000005.10:g.135033779G>A	ExAC,TOPMed,gnomAD
rs1166246760	p.Ala37Thr	missense variant	-	NC_000005.10:g.135033773C>T	TOPMed,gnomAD
rs1372460130	p.Asp38Glu	missense variant	-	NC_000005.10:g.135033768G>T	gnomAD
rs766675727	p.Pro39Ala	missense variant	-	NC_000005.10:g.135033767G>C	ExAC,gnomAD
rs772499567	p.Arg40Leu	missense variant	-	NC_000005.10:g.135033763C>A	ExAC,TOPMed,gnomAD
rs760760729	p.Arg40Cys	missense variant	-	NC_000005.10:g.135033764G>A	ExAC,TOPMed,gnomAD
rs772499567	p.Arg40His	missense variant	-	NC_000005.10:g.135033763C>T	ExAC,TOPMed,gnomAD
rs760760729	p.Arg40Gly	missense variant	-	NC_000005.10:g.135033764G>C	ExAC,TOPMed,gnomAD
rs1485796234	p.Glu41Lys	missense variant	-	NC_000005.10:g.135033761C>T	gnomAD
rs1375721728	p.Pro42Leu	missense variant	-	NC_000005.10:g.135033757G>A	TOPMed
COSM3850221	p.Pro42Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135033758G>C	NCI-TCGA Cosmic
rs1338227833	p.Glu44Asp	missense variant	-	NC_000005.10:g.135033750C>A	gnomAD
rs989679028	p.Asn45Lys	missense variant	-	NC_000005.10:g.135033747G>C	TOPMed,gnomAD
rs1230333301	p.Ser46Pro	missense variant	-	NC_000005.10:g.135033746A>G	gnomAD
rs780516973	p.Ala47Ser	missense variant	-	NC_000005.10:g.135033743C>A	ExAC,gnomAD
rs1357631864	p.Ser48Thr	missense variant	-	NC_000005.10:g.135033739C>G	gnomAD
rs1415568856	p.Ser48Gly	missense variant	-	NC_000005.10:g.135033740T>C	gnomAD
rs746572751	p.Ser50Pro	missense variant	-	NC_000005.10:g.135033734A>G	ExAC,gnomAD
rs746572751	p.Ser50Thr	missense variant	-	NC_000005.10:g.135033734A>T	ExAC,gnomAD
rs200290396	p.Asp52Glu	missense variant	-	NC_000005.10:g.135033726G>C	TOPMed,gnomAD
rs1390857984	p.Asp52Asn	missense variant	-	NC_000005.10:g.135033728C>T	gnomAD
rs777634577	p.Thr53Met	missense variant	-	NC_000005.10:g.135033724G>A	ExAC,gnomAD
rs1294797416	p.Glu54Asp	missense variant	-	NC_000005.10:g.135033720C>G	TOPMed
rs1367740243	p.Leu55Arg	missense variant	-	NC_000005.10:g.135033718A>C	TOPMed
rs1385869878	p.Pro56Arg	missense variant	-	NC_000005.10:g.135033715G>C	TOPMed
rs1192736152	p.Arg60His	missense variant	-	NC_000005.10:g.135031499C>T	TOPMed,gnomAD
rs779923896	p.Arg60Ser	missense variant	-	NC_000005.10:g.135031500G>T	ExAC,TOPMed,gnomAD
rs779923896	p.Arg60Cys	missense variant	-	NC_000005.10:g.135031500G>A	ExAC,TOPMed,gnomAD
rs756056039	p.Gly61Ser	missense variant	-	NC_000005.10:g.135031497C>T	ExAC,TOPMed,gnomAD
rs1056762111	p.Gly62Trp	missense variant	-	NC_000005.10:g.135031494C>A	TOPMed
rs1301233293	p.Pro67Leu	missense variant	-	NC_000005.10:g.135031478G>A	gnomAD
rs757554141	p.Glu68Lys	missense variant	-	NC_000005.10:g.135031476C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser70Asn	missense variant	-	NC_000005.10:g.135031469C>T	NCI-TCGA
rs775734536	p.Gly71Asp	missense variant	-	NC_000005.10:g.135031466C>T	TOPMed,gnomAD
rs139844695	p.Ala72Val	missense variant	-	NC_000005.10:g.135031463G>A	ESP,ExAC,TOPMed,gnomAD
rs1365985651	p.Gly73Glu	missense variant	-	NC_000005.10:g.135031460C>T	gnomAD
rs758752422	p.Gly76Ser	missense variant	-	NC_000005.10:g.135031452C>T	ExAC,gnomAD
rs753078578	p.Cys77Trp	missense variant	-	NC_000005.10:g.135031447G>C	ExAC,TOPMed,gnomAD
rs765717973	p.Gly78Ser	missense variant	-	NC_000005.10:g.135031446C>T	ExAC,gnomAD
rs772743808	p.Gly79Cys	missense variant	-	NC_000005.10:g.135031443C>A	ExAC,gnomAD
rs1378101551	p.Ala80Thr	missense variant	-	NC_000005.10:g.135031440C>T	gnomAD
rs766948741	p.Asp82Asn	missense variant	-	NC_000005.10:g.135031434C>T	ExAC,gnomAD
RCV000306490	p.Ala84Asp	missense variant	-	NC_000005.10:g.135031427G>T	ClinVar
rs201133610	p.Ala84Asp	missense variant	-	NC_000005.10:g.135031427G>T	ExAC,TOPMed,gnomAD
rs1246339922	p.Lys86Thr	missense variant	-	NC_000005.10:g.135031421T>G	TOPMed
rs1260855740	p.Lys86Gln	missense variant	-	NC_000005.10:g.135031422T>G	gnomAD
rs200888898	p.Lys88Gln	missense variant	-	NC_000005.10:g.135031416T>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000319849	p.Lys88Gln	missense variant	-	NC_000005.10:g.135031416T>G	ClinVar
rs1013698423	p.Gln89Glu	missense variant	-	NC_000005.10:g.135031413G>C	TOPMed
rs1254713180	p.Arg91Gln	missense variant	-	NC_000005.10:g.135031406C>T	TOPMed,gnomAD
COSM273112	p.Arg93His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135031400C>T	NCI-TCGA Cosmic
rs1477746070	p.His95Gln	missense variant	-	NC_000005.10:g.135031393G>T	TOPMed,gnomAD
rs749085613	p.Thr97Lys	missense variant	-	NC_000005.10:g.135031388G>T	ExAC,gnomAD
rs1375931542	p.Thr97Ala	missense variant	-	NC_000005.10:g.135031389T>C	gnomAD
NCI-TCGA novel	p.Ser98Gly	missense variant	-	NC_000005.10:g.135031386T>C	NCI-TCGA
NCI-TCGA novel	p.Glu105Asp	missense variant	-	NC_000005.10:g.135031363C>A	NCI-TCGA
NCI-TCGA novel	p.Glu105Lys	missense variant	-	NC_000005.10:g.135031365C>T	NCI-TCGA
rs1353831820	p.Ala106Thr	missense variant	-	NC_000005.10:g.135031362C>T	gnomAD
rs1312538588	p.Thr107Met	missense variant	-	NC_000005.10:g.135031358G>A	gnomAD
NCI-TCGA novel	p.Gln109Arg	missense variant	-	NC_000005.10:g.135031352T>C	NCI-TCGA
rs1404510232	p.Arg112Gly	missense variant	-	NC_000005.10:g.135031344G>C	gnomAD
NCI-TCGA novel	p.Asp115Asn	missense variant	-	NC_000005.10:g.135031335C>T	NCI-TCGA
rs1422587604	p.Met116Ile	missense variant	-	NC_000005.10:g.135031330C>A	gnomAD
rs1422587604	p.Met116Ile	missense variant	-	NC_000005.10:g.135031330C>T	gnomAD
rs1262985450	p.Ser117Gly	missense variant	-	NC_000005.10:g.135031329T>C	gnomAD
rs571940665	p.Met118Val	missense variant	-	NC_000005.10:g.135031326T>C	1000Genomes,ExAC,gnomAD
rs1397161276	p.Arg119Thr	missense variant	-	NC_000005.10:g.135031322C>G	TOPMed
rs550233065	p.Glu120Asp	missense variant	-	NC_000005.10:g.135031318C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs753029316	p.Val124Leu	missense variant	-	NC_000005.10:g.135031308C>A	ExAC,TOPMed,gnomAD
rs753029316	p.Val124Met	missense variant	-	NC_000005.10:g.135031308C>T	ExAC,TOPMed,gnomAD
rs753029316	p.Val124Leu	missense variant	-	NC_000005.10:g.135031308C>G	ExAC,TOPMed,gnomAD
rs1340197341	p.Val124Ala	missense variant	-	NC_000005.10:g.135031307A>G	TOPMed
rs1257740467	p.Trp125Leu	missense variant	-	NC_000005.10:g.135031304C>A	gnomAD
rs1480604875	p.Asn127Asp	missense variant	-	NC_000005.10:g.135031299T>C	gnomAD
rs1243111381	p.Asn127Lys	missense variant	-	NC_000005.10:g.135031297G>T	TOPMed
rs121909109	p.Glu130Lys	missense variant	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF)	NC_000005.10:g.135031290C>T	UniProt,dbSNP
VAR_058113	p.Glu130Lys	missense variant	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF)	NC_000005.10:g.135031290C>T	UniProt
rs121909109	p.Glu130Lys	missense variant	-	NC_000005.10:g.135031290C>T	-
RCV000007934	p.Glu130Lys	missense variant	Talipes equinovarus (CCF)	NC_000005.10:g.135031290C>T	ClinVar
rs1200875885	p.Pro131Ser	missense variant	-	NC_000005.10:g.135031287G>A	TOPMed,gnomAD
rs754287927	p.Pro131Leu	missense variant	-	NC_000005.10:g.135031286G>A	ExAC,TOPMed,gnomAD
rs761379519	p.Arg132Cys	missense variant	-	NC_000005.10:g.135031284G>A	ExAC,TOPMed,gnomAD
rs1342270668	p.Arg132His	missense variant	-	NC_000005.10:g.135031283C>T	TOPMed,gnomAD
rs987364689	p.Arg134Gln	missense variant	-	NC_000005.10:g.135031277C>T	TOPMed
rs1476602015	p.Val135Ile	missense variant	-	NC_000005.10:g.135029321C>T	gnomAD
rs1345681080	p.Val135Ala	missense variant	-	NC_000005.10:g.135029320A>G	gnomAD
RCV000177164	p.Asn139Thr	missense variant	-	NC_000005.10:g.135029308T>G	ClinVar
rs794727495	p.Asn139Thr	missense variant	-	NC_000005.10:g.135029308T>G	-
NCI-TCGA novel	p.Arg141Ter	stop gained	-	NC_000005.10:g.135029303G>A	NCI-TCGA
rs1399013260	p.Arg145His	missense variant	-	NC_000005.10:g.135029290C>T	gnomAD
NCI-TCGA novel	p.Lys146Ter	frameshift	-	NC_000005.10:g.135029288_135029289insA	NCI-TCGA
rs1360539859	p.Arg147His	missense variant	-	NC_000005.10:g.135029284C>T	TOPMed,gnomAD
COSM735648	p.Arg147Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029285G>T	NCI-TCGA Cosmic
COSM1060971	p.Arg147Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029285G>A	NCI-TCGA Cosmic
rs1360539859	p.Arg147Pro	missense variant	-	NC_000005.10:g.135029284C>G	TOPMed,gnomAD
rs1433362036	p.Arg149His	missense variant	-	NC_000005.10:g.135029278C>T	TOPMed,gnomAD
rs1347444403	p.Arg149Cys	missense variant	-	NC_000005.10:g.135029279G>A	TOPMed
NCI-TCGA novel	p.Gln152Ter	stop gained	-	NC_000005.10:g.135029270G>A	NCI-TCGA
rs1279414350	p.Cys156Trp	missense variant	-	NC_000005.10:g.135029256G>C	TOPMed
COSM1060969	p.Cys156AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.135029259C>-	NCI-TCGA Cosmic
rs1173728974	p.Gly158Ser	missense variant	-	NC_000005.10:g.135029252C>T	gnomAD
rs752113290	p.Gly159Ser	missense variant	-	NC_000005.10:g.135029249C>T	ExAC,gnomAD
rs1218709956	p.Gly159Val	missense variant	-	NC_000005.10:g.135029248C>A	TOPMed
rs765028752	p.Tyr160Cys	missense variant	-	NC_000005.10:g.135029245T>C	ExAC,gnomAD
rs1265370549	p.Pro162Gln	missense variant	-	NC_000005.10:g.135029239G>T	TOPMed,gnomAD
rs1441963613	p.Gln163Pro	missense variant	-	NC_000005.10:g.135029236T>G	gnomAD
rs1277812715	p.Gln163His	missense variant	-	NC_000005.10:g.135029235C>G	TOPMed,gnomAD
rs1219808304	p.Val168Ala	missense variant	-	NC_000005.10:g.135029221A>G	gnomAD
RCV000760809	p.Tyr171Ter	nonsense	-	NC_000005.10:g.135029211G>C	ClinVar
COSM6101923	p.Tyr171Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.135029211G>T	NCI-TCGA Cosmic
rs766215212	p.Glu172Lys	missense variant	-	NC_000005.10:g.135029210C>T	ExAC,gnomAD
rs1217579831	p.Val174Met	missense variant	-	NC_000005.10:g.135029204C>T	gnomAD
rs760706230	p.Tyr175His	missense variant	-	NC_000005.10:g.135029201A>G	ExAC,gnomAD
rs773259804	p.Ala176Thr	missense variant	-	NC_000005.10:g.135029198C>T	ExAC,TOPMed,gnomAD
rs933528781	p.Trp184Arg	missense variant	-	NC_000005.10:g.135029174A>G	TOPMed,gnomAD
rs1212664689	p.Trp184Ser	missense variant	-	NC_000005.10:g.135029173C>G	gnomAD
rs774275193	p.Ala186Thr	missense variant	-	NC_000005.10:g.135029168C>T	ExAC,TOPMed,gnomAD
rs774275193	p.Ala186Ser	missense variant	-	NC_000005.10:g.135029168C>A	ExAC,TOPMed,gnomAD
rs1417744334	p.Lys187Glu	missense variant	-	NC_000005.10:g.135029165T>C	gnomAD
rs1270507178	p.Lys187Arg	missense variant	-	NC_000005.10:g.135029164T>C	gnomAD
rs768895777	p.Ser188Gly	missense variant	-	NC_000005.10:g.135029162T>C	ExAC,gnomAD
rs749444294	p.Leu189Pro	missense variant	-	NC_000005.10:g.135029158A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala190GlyPheSerTerUnkUnkUnk	frameshift	-	NC_000005.10:g.135029157_135029158insA	NCI-TCGA
COSM6101924	p.Pro191Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029153G>T	NCI-TCGA Cosmic
rs201656428	p.Ala192Val	missense variant	-	NC_000005.10:g.135029149G>A	ESP,ExAC,TOPMed,gnomAD
rs1472506383	p.Pro193Gln	missense variant	-	NC_000005.10:g.135029146G>T	gnomAD
rs770201995	p.Leu194Val	missense variant	-	NC_000005.10:g.135029144G>C	ExAC,gnomAD
rs1470337405	p.Lys197Asn	missense variant	-	NC_000005.10:g.135029133C>G	gnomAD
NCI-TCGA novel	p.Phe199Leu	missense variant	-	NC_000005.10:g.135029129A>G	NCI-TCGA
rs1399567797	p.Phe201Ser	missense variant	-	NC_000005.10:g.135029122A>G	gnomAD
rs370544754	p.Phe201Leu	missense variant	-	NC_000005.10:g.135029123A>G	ESP,ExAC,TOPMed
rs886765208	p.Phe202Leu	missense variant	-	NC_000005.10:g.135029120A>G	gnomAD
COSM3608612	p.Ser204Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029113G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser204Tyr	missense variant	-	NC_000005.10:g.135029113G>T	NCI-TCGA
rs766120302	p.Met205Arg	missense variant	-	NC_000005.10:g.135029110A>C	ExAC,gnomAD
rs149498254	p.Met205Leu	missense variant	-	NC_000005.10:g.135029111T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149498254	p.Met205Val	missense variant	-	NC_000005.10:g.135029111T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147021244	p.Pro207Leu	missense variant	-	NC_000005.10:g.135029104G>A	1000Genomes,gnomAD
rs1450755660	p.Pro207Ala	missense variant	-	NC_000005.10:g.135029105G>C	gnomAD
rs147021244	p.Pro207Gln	missense variant	-	NC_000005.10:g.135029104G>T	1000Genomes,gnomAD
rs1349932321	p.Ser209Pro	missense variant	-	NC_000005.10:g.135029099A>G	TOPMed
COSM3918644	p.Ser209Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029098G>A	NCI-TCGA Cosmic
rs1466455949	p.Gln211Arg	missense variant	-	NC_000005.10:g.135029092T>C	gnomAD
rs756005087	p.Ser212Thr	missense variant	-	NC_000005.10:g.135029090A>T	ExAC
rs138042194	p.Met213Val	missense variant	-	NC_000005.10:g.135029087T>C	ESP,ExAC,TOPMed,gnomAD
rs373267473	p.Met213Lys	missense variant	-	NC_000005.10:g.135029086A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe214Leu	missense variant	-	NC_000005.10:g.135029082G>T	NCI-TCGA
rs373526031	p.Ala216Ser	missense variant	-	NC_000005.10:g.135029078C>A	ESP,TOPMed,gnomAD
rs1452998414	p.Thr224Ser	missense variant	-	NC_000005.10:g.135029054T>A	TOPMed
rs943518762	p.Thr224Asn	missense variant	-	NC_000005.10:g.135029053G>T	TOPMed,gnomAD
rs774492516	p.Met225Val	missense variant	-	NC_000005.10:g.135029051T>C	ExAC,gnomAD
rs764101680	p.Pro226Ser	missense variant	-	NC_000005.10:g.135029048G>A	ExAC,gnomAD
rs763006479	p.Pro226Gln	missense variant	-	NC_000005.10:g.135029047G>T	ExAC,gnomAD
rs1240871076	p.Met229Thr	missense variant	-	NC_000005.10:g.135029038A>G	TOPMed,gnomAD
rs775755663	p.Met229Ile	missense variant	-	NC_000005.10:g.135029037C>T	ExAC,gnomAD
rs1453741800	p.Met229Leu	missense variant	-	NC_000005.10:g.135029039T>A	TOPMed
rs769968771	p.Pro231Thr	missense variant	-	NC_000005.10:g.135029033G>T	ExAC,TOPMed,gnomAD
rs746291345	p.Gly232Ser	missense variant	-	NC_000005.10:g.135029030C>T	ExAC,TOPMed,gnomAD
COSM1060965	p.Ala233Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135029027C>T	NCI-TCGA Cosmic
rs1309164541	p.Val234Gly	missense variant	-	NC_000005.10:g.135029023A>C	gnomAD
rs1309164541	p.Val234Ala	missense variant	-	NC_000005.10:g.135029023A>G	gnomAD
rs776808560	p.Val234Met	missense variant	-	NC_000005.10:g.135029024C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro235Ser	missense variant	-	NC_000005.10:g.135029021G>A	NCI-TCGA
rs1448173070	p.Pro238Ser	missense variant	-	NC_000005.10:g.135029012G>A	gnomAD
rs1379498261	p.Ser240Leu	missense variant	-	NC_000005.10:g.135029005G>A	gnomAD
rs1369105726	p.Asn246Ser	missense variant	-	NC_000005.10:g.135028987T>C	TOPMed
rs747410643	p.Asn247Ser	missense variant	-	NC_000005.10:g.135028984T>C	ExAC,TOPMed,gnomAD
rs778584550	p.Leu248Val	missense variant	-	NC_000005.10:g.135028982G>C	ExAC,TOPMed
rs1167236058	p.Thr249Pro	missense variant	-	NC_000005.10:g.135028979T>G	gnomAD
COSM3850219	p.Thr249Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135028979T>C	NCI-TCGA Cosmic
rs1236802730	p.Gly250Asp	missense variant	-	NC_000005.10:g.135028975C>T	TOPMed
rs748803285	p.Gly250Ser	missense variant	-	NC_000005.10:g.135028976C>T	ExAC,gnomAD
rs1239721690	p.Asn254Ser	missense variant	-	NC_000005.10:g.135028963T>C	gnomAD
COSM1060963	p.Ser255Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135028960G>A	NCI-TCGA Cosmic
rs1236988076	p.Ala256Val	missense variant	-	NC_000005.10:g.135028957G>A	TOPMed,gnomAD
rs372494047	p.Ala256Thr	missense variant	-	NC_000005.10:g.135028958C>T	ESP
RCV000030814	p.Ala256Ter	frameshift	Talipes equinovarus (CCF)	NC_000005.10:g.135028929_135028963del	ClinVar
rs767150308	p.Met257Lys	missense variant	-	NC_000005.10:g.135028954A>T	ExAC,TOPMed,gnomAD
rs767150308	p.Met257Arg	missense variant	-	NC_000005.10:g.135028954A>C	ExAC,TOPMed,gnomAD
rs767150308	p.Met257Thr	missense variant	-	NC_000005.10:g.135028954A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser258Leu	missense variant	-	NC_000005.10:g.135028951G>A	NCI-TCGA
rs1458849350	p.Pro259Leu	missense variant	-	NC_000005.10:g.135028948G>A	TOPMed
rs568284959	p.Gly260Ser	missense variant	-	NC_000005.10:g.135028946C>T	1000Genomes,TOPMed,gnomAD
rs1273502568	p.Gly260Asp	missense variant	-	NC_000005.10:g.135028945C>T	gnomAD
rs764013997	p.Pro263Leu	missense variant	-	NC_000005.10:g.135028936G>A	ExAC,TOPMed
rs764013997	p.Pro263Arg	missense variant	-	NC_000005.10:g.135028936G>C	ExAC,TOPMed
rs1299866342	p.Gly265Asp	missense variant	-	NC_000005.10:g.135028930C>T	gnomAD
rs141612135	p.Gly265Arg	missense variant	-	NC_000005.10:g.135028931C>G	ESP,ExAC,TOPMed,gnomAD
rs141612135	p.Gly265Ser	missense variant	-	NC_000005.10:g.135028931C>T	ESP,ExAC,TOPMed,gnomAD
rs1386538357	p.Thr266Ala	missense variant	-	NC_000005.10:g.135028928T>C	gnomAD
rs1317444283	p.Ser269Leu	missense variant	-	NC_000005.10:g.135028918G>A	gnomAD
COSM462078	p.Ser269Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135028918G>C	NCI-TCGA Cosmic
rs528345689	p.Ser272Gly	missense variant	-	NC_000005.10:g.135028910T>C	1000Genomes,ExAC,gnomAD
rs747391523	p.Val273Phe	missense variant	-	NC_000005.10:g.135028907C>A	ExAC,gnomAD
COSM72185	p.Val273Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135028907C>T	NCI-TCGA Cosmic
rs773927273	p.Tyr274Cys	missense variant	-	NC_000005.10:g.135028903T>C	ExAC,gnomAD
rs1013032115	p.Arg275Pro	missense variant	-	NC_000005.10:g.135028900C>G	TOPMed,gnomAD
rs1432380066	p.Asp276Asn	missense variant	-	NC_000005.10:g.135028898C>T	gnomAD
NCI-TCGA novel	p.Asn279Lys	missense variant	-	NC_000005.10:g.135028887G>C	NCI-TCGA
rs1487114718	p.Ser284Arg	missense variant	-	NC_000005.10:g.135028874T>G	gnomAD
rs769519435	p.Arg286Gln	missense variant	-	NC_000005.10:g.135028867C>T	ExAC,gnomAD
rs780883053	p.Leu287Arg	missense variant	-	NC_000005.10:g.135028864A>C	ExAC,gnomAD
rs1298472078	p.Lys288Glu	missense variant	-	NC_000005.10:g.135028862T>C	TOPMed
rs902010938	p.Ser289Ala	missense variant	-	NC_000005.10:g.135028859A>C	TOPMed
rs1313082228	p.Gln291Ter	stop gained	-	NC_000005.10:g.135028853G>A	gnomAD
rs1296477476	p.Gln291Pro	missense variant	-	NC_000005.10:g.135028852T>G	gnomAD
rs1303886235	p.Ser293Leu	missense variant	-	NC_000005.10:g.135028846G>A	gnomAD
rs1303886235	p.Ser293Ter	stop gained	-	NC_000005.10:g.135028846G>T	gnomAD
rs758279008	p.Ser294Leu	missense variant	-	NC_000005.10:g.135028843G>A	ExAC,gnomAD
rs758279008	p.Ser294Ter	stop gained	-	NC_000005.10:g.135028843G>T	ExAC,gnomAD
rs765166800	p.Phe295Leu	missense variant	-	NC_000005.10:g.135028841A>G	ExAC,TOPMed,gnomAD
rs1300941744	p.Gly296Val	missense variant	-	NC_000005.10:g.135028837C>A	gnomAD
rs1359475063	p.Tyr297Asn	missense variant	-	NC_000005.10:g.135028835A>T	gnomAD
rs1319547128	p.Gly298Asp	missense variant	-	NC_000005.10:g.135028831C>T	TOPMed
rs759820239	p.Gly299Ser	missense variant	-	NC_000005.10:g.135028829C>T	ExAC,TOPMed,gnomAD
rs479632	p.Gly299Ala	missense variant	-	NC_000005.10:g.135028828C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000327204	p.Gly299Ala	missense variant	-	NC_000005.10:g.135028828C>G	ClinVar
rs1258847740	p.Gln301Arg	missense variant	-	NC_000005.10:g.135028822T>C	TOPMed
rs367566700	p.Gln301Ter	stop gained	-	NC_000005.10:g.135028823G>A	ESP,ExAC,TOPMed,gnomAD
COSM3608611	p.Gly302Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.135028819C>T	NCI-TCGA Cosmic
rs1165114591	p.Gly302Ser	missense variant	-	NC_000005.10:g.135028820C>T	gnomAD
rs773690157	p.Pro303Ala	missense variant	-	NC_000005.10:g.135028817G>C	ExAC,gnomAD
rs1197107893	p.Ala304Asp	missense variant	-	NC_000005.10:g.135028813G>T	TOPMed,gnomAD
rs1279071053	p.Gly306Ser	missense variant	-	NC_000005.10:g.135028808C>T	TOPMed,gnomAD
rs1220699278	p.Leu307Phe	missense variant	-	NC_000005.10:g.135028805G>A	gnomAD
rs1312123736	p.Asn308Ser	missense variant	-	NC_000005.10:g.135028801T>C	TOPMed,gnomAD
rs745378528	p.Asn308Lys	missense variant	-	NC_000005.10:g.135028800G>T	ExAC,TOPMed,gnomAD
rs535075716	p.Ala309Glu	missense variant	-	NC_000005.10:g.135028798G>T	ExAC,TOPMed,gnomAD
rs140746945	p.Ala309Thr	missense variant	-	NC_000005.10:g.135028799C>T	ESP,ExAC,gnomAD
rs535075716	p.Ala309Gly	missense variant	-	NC_000005.10:g.135028798G>C	ExAC,TOPMed,gnomAD
rs752576335	p.Gln311Ter	stop gained	-	NC_000005.10:g.135028793G>A	ExAC,gnomAD
rs374745950	p.Ser314Arg	missense variant	-	NC_000005.10:g.135028782G>C	ESP,ExAC,TOPMed,gnomAD
rs766560623	p.Ter315Cys	stop lost	-	NC_000005.10:g.135028779T>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0004114	Astrocytoma	disease	BEFREE
C0004352	Autistic Disorder	group	CTD_human
C0004763	Barrett Esophagus	disease	BEFREE;LHGDN
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007095	Carcinoid Tumor	group	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0009081	Congenital clubfoot	disease	BEFREE;CLINVAR;CTD_human;HPO;MGD;UNIPROT
C0009402	Colorectal Carcinoma	disease	BEFREE
C0018552	Hamartoma	group	BEFREE
C0019196	Hepatitis C	disease	LHGDN
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0032000	Pituitary Adenoma	disease	BEFREE
C0032002	Pituitary Diseases	group	BEFREE
C0032019	Pituitary Neoplasms	group	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE
C0038356	Stomach Neoplasms	group	LHGDN
C0041341	Tuberous Sclerosis	disease	BEFREE
C0152427	Polydactyly	disease	BEFREE;GENOMICS_ENGLAND
C0162298	Joint stiffness	phenotype	HPO
C0206762	Limb Deformities, Congenital	group	BEFREE
C0221357	Brachydactyly	disease	HPO
C0238288	Muscular Dystrophy, Facioscapulohumeral	disease	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0264122	Atrophy, Disuse	disease	BEFREE
C0265633	Congenital absence of tibia	disease	BEFREE
C0279628	Adenocarcinoma Of Esophagus	disease	BEFREE
C0334299	Carcinoid tumor no ICD-O subtype	phenotype	BEFREE
C0345354	Radial polydactyly	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0409338	Flexion contracture - elbow	phenotype	HPO
C0409952	Idiopathic osteoarthritis	disease	BEFREE
C0409959	Osteoarthritis, Knee	disease	LHGDN
C0432055	Simple syndactyly of fingers - first web	disease	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677483	Carcinoma testes	disease	GWASCAT;GWASDB
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1321313	Astrocytic hamartoma	disease	BEFREE
C1336708	Testicular Germ Cell Tumor	disease	BEFREE;CTD_human
C1384584	Generalized osteoarthritis	disease	BEFREE
C1403299	Radiohumeral dislocation	phenotype	HPO
C1403321	Ulnohumeral dislocation	phenotype	HPO
C1456246	Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site	disease	BEFREE
C1512409	Hepatocarcinogenesis	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1833142	contracture of elbow	phenotype	HPO
C1836193	Synostosis of carpal bones	phenotype	HPO
C1840535	Abnormality of the carpal bones	phenotype	HPO
C1849039	Metaphyseal widening	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1851100	LAURIN-SANDROW SYNDROME	disease	BEFREE;ORPHANET
C1861313	Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly	disease	BEFREE;CTD_human;ORPHANET
C1861316	Radially deviated wrists	phenotype	HPO
C1865702	Joint contracture of the 5th finger	phenotype	HPO
C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2720437	Dislocation of elbow joint	phenotype	HPO
C2749463	Aplasia/Hypoplasia of the radius	phenotype	HPO
C4021385	Abnormality of the distal phalanx of finger	phenotype	HPO
C4021742	Abnormality of the humerus	phenotype	HPO
C4021782	Abnormality of the fingernails	phenotype	HPO
C4025414	Radial club hand	disease	GENOMICS_ENGLAND
C4025662	Abnormality of the ulna	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO

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	IBA
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:0001085	RNA polymerase II transcription factor binding	IBA
GO:0001085	RNA polymerase II transcription factor binding	IPI
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003700	DNA-binding transcription factor activity	ISS
GO:0005515	protein binding	IPI
GO:0043565	sequence-specific DNA binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	TAS
GO:0009653	anatomical structure morphogenesis	IBA
GO:0014707	branchiomeric skeletal muscle development	IEA
GO:0021983	pituitary gland development	IEA
GO:0035116	embryonic hindlimb morphogenesis	IEA
GO:0045892	negative regulation of transcription, DNA-templated	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048625	myoblast fate commitment	IEA
GO:0051216	cartilage development	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000790	nuclear chromatin	ISA
GO:0005634	nucleus	IDA
GO:0005634	nucleus	IBA
GO:0005667	transcription factor complex	IEA
GO:0005737	cytoplasm	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PITX1 gene	27153756
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PITX1 mRNA	16483693
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PITX1 mRNA	24449571
C015001	arsenite	arsenite results in increased methylation of PITX1 promoter	23974009
D001241	Aspirin	Aspirin results in increased expression of PITX1 mRNA	11906190
D019324	beta-Naphthoflavone	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of PITX1 mRNA	18164116
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in decreased expression of PITX1 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of PITX1 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of PITX1 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in decreased expression of PITX1 mRNA	30951980
D019256	Cadmium Chloride	Cadmium Chloride results in decreased methylation of PITX1 promoter	22457795
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of PITX1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of PITX1 mRNA	27392435
D003561	Cytarabine	Cytarabine results in decreased expression of PITX1 mRNA	21198554
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of PITX1 mRNA	23640034
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of PITX1 mRNA]	27941970
C121718	dicyclanil	dicyclanil results in increased expression of PITX1 mRNA	15664270
D004026	Dieldrin	[Dieldrin co-treated with Estradiol] results in decreased expression of PITX1 mRNA	23041725
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of PITX1 mRNA	18164116
D004317	Doxorubicin	Doxorubicin results in increased expression of PITX1 mRNA	16404146
D004958	Estradiol	Estradiol affects the expression of PITX1 mRNA	14699072
D004958	Estradiol	[Estradiol binds to ESR2 protein] which results in increased expression of PITX1 mRNA	20404318
D004958	Estradiol	Estradiol results in increased expression of PITX1 mRNA	21795739
D004958	Estradiol	[Dieldrin co-treated with Estradiol] results in decreased expression of PITX1 mRNA	23041725
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PITX1 mRNA	23550701
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [Genistein results in decreased expression of PITX1 mRNA]	21810550
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [Genistein results in increased expression of PITX1 mRNA]	22553218
D019833	Genistein	Fulvestrant inhibits the reaction [Genistein results in decreased expression of PITX1 mRNA]	21810550
D019833	Genistein	Fulvestrant inhibits the reaction [Genistein results in increased expression of PITX1 mRNA]	22553218
D019833	Genistein	Genistein results in increased expression of and results in increased localization of PITX1 protein	21810550
D019833	Genistein	Genistein results in increased expression of PITX1 mRNA	21810550
D007052	Ibuprofen	Ibuprofen results in increased expression of PITX1 mRNA	28201806
C492448	ICG 001	ICG 001 results in increased expression of PITX1 mRNA	26191083
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of PITX1 mRNA	27392435
C410337	K 7174	K 7174 results in decreased expression of PITX1 mRNA	24086573
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PITX1 mRNA	23179753
C000622638	MLN7243	MLN7243 results in increased sumoylation of PITX1 protein	31285264
D059808	Polyphenols	Polyphenols results in decreased expression of PITX1 mRNA	16293270
D012643	Selenium	[Selenium co-treated with Vitamin E] results in increased expression of PITX1 mRNA	19244175
D012643	Selenium	Selenium results in increased expression of PITX1 mRNA	19244175
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PITX1 mRNA	24058054
D013974	Thyroxine	Thyroxine results in decreased expression of PITX1 mRNA	17403546
D014212	Tretinoin	Tretinoin results in decreased expression of PITX1 mRNA	23810783
D014212	Tretinoin	Tretinoin results in decreased expression of PITX1 protein	23810783
D014260	Triclosan	Triclosan results in increased expression of PITX1 mRNA	30510588
D014635	Valproic Acid	Valproic Acid results in increased methylation of PITX1 gene	29154799
D014810	Vitamin E	[Selenium co-treated with Vitamin E] results in increased expression of PITX1 mRNA	19244175

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0010	Activator
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0371	Homeobox
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation

Interpro

InterPro ID	InterPro Term
IPR009057	Homeobox-like_sf
IPR017970	Homeobox_CS
IPR001356	Homeobox_dom
IPR016233	Homeobox_Pitx/unc30
IPR003654	OAR_dom

PROSITE

PROSITE ID	PROSITE Term
PS00027	HOMEOBOX_1
PS50071	HOMEOBOX_2
PS50803	OAR

Pfam

Pfam ID	Pfam Term
PF00046	Homeodomain
PF03826	OAR

Gene: PITX1

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

There is no related protein structure for this gene.

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