CleftGeneDB-Search

Gene: NOSIP

Basic information

Tag	Content
Uniprot ID	A0A075B6F9
Entrez ID	51070
Genbank protein ID
Genbank nucleotide ID	XM_005258964.4; XM_006723235.3;
Ensembl protein ID	ENSP00000343497
Ensembl nucleotide ID	ENSG00000142546
Gene name	Nitric oxide synthase-interacting protein
Gene symbol	NOSIP
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity.
Sequence	MTRHGKNCTA GAVYTYHEKK KDTAASGYGT QNIRLSRDAV KDFDCCCLSL QPCHDPVVTP 60 DGYLYEREAI LEYILHQKKE IARQMKAYEK QRGTRREEQK ELQRAASQDH VRGFLEKESA 120 IVSRPLNPFT AKALSGTSPG DSDDVQPGPS VGPPSKDKDK VLPSFWIPSL TPEAKATKLE 180 KPSRTVTCPM SGKPLRMSDL TPVHFTPLDS SVDRVGLITR SERYVCAVTR DSLSNATPCA 240 VLRPSGAVVT LECVEKLIRK DMVDPVTGDK LTDRDIIVLQ RGGTGFAGSG VKLQAEKSRP 300 VMQA 304

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	Species	Evidence	Details
1:1 ortholog	NOSIP	511234	Q3SWY5		Bos taurus	Prediction	More>>
1:1 ortholog	NOSIP		E2R5E4		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	NOSIP		A0A452G0I6		Capra hircus	Prediction	More>>
1:1 ortholog	NOSIP	100052038	F6SN22		Equus caballus	Prediction	More>>
1:1 ortholog	NOSIP	51070	A0A075B6F9		Homo sapiens	Prediction	More>>
1:1 ortholog	Nosip	66394	Q9D6T0	CPO	Mus musculus	Publication	More>>
1:1 ortholog	NOSIP	456209	H2QGV5		Pan troglodytes	Prediction	More>>
1:1 ortholog		100518311	A0A4X1VYM4		Sus scrofa	Prediction	More>>
1:1 ortholog	Nosip	292894	D3ZH12		Rattus norvegicus	Prediction	More>>
1:1 ortholog	nosip	492793	Q5U3S7		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs996963376	p.Arg3Trp	missense variant	-	NC_000019.10:g.49560685G>A	TOPMed,gnomAD
rs1419603246	p.Arg3Pro	missense variant	-	NC_000019.10:g.49560684C>G	gnomAD
rs1408151536	p.Gly5Asp	missense variant	-	NC_000019.10:g.49560678C>T	gnomAD
rs778892261	p.Lys6Arg	missense variant	-	NC_000019.10:g.49560675T>C	ExAC,gnomAD
rs764358157	p.Gly11Glu	missense variant	-	NC_000019.10:g.49560660C>T	ExAC,gnomAD
rs373372386	p.Ala12Val	missense variant	-	NC_000019.10:g.49560657G>A	ESP,ExAC,TOPMed,gnomAD
rs1449044667	p.Ala12Thr	missense variant	-	NC_000019.10:g.49560658C>T	TOPMed
rs777226139	p.Val13Ile	missense variant	-	NC_000019.10:g.49560655C>T	TOPMed,gnomAD
rs777226139	p.Val13Phe	missense variant	-	NC_000019.10:g.49560655C>A	TOPMed,gnomAD
rs1488575532	p.Thr15Ala	missense variant	-	NC_000019.10:g.49560649T>C	gnomAD
rs369863958	p.Tyr16Ter	stop gained	-	NC_000019.10:g.49560644G>C	ESP,ExAC,TOPMed,gnomAD
rs1221790458	p.His17Arg	missense variant	-	NC_000019.10:g.49560642T>C	TOPMed
rs1343160133	p.Glu18Lys	missense variant	-	NC_000019.10:g.49560640C>T	gnomAD
rs1224319623	p.Lys21Asn	missense variant	-	NC_000019.10:g.49560629C>A	gnomAD
rs1224319623	p.Lys21Asn	missense variant	-	NC_000019.10:g.49560629C>G	gnomAD
rs762823521	p.Lys21Glu	missense variant	-	NC_000019.10:g.49560631T>C	ExAC,TOPMed,gnomAD
rs762843467	p.Ala24Val	missense variant	-	NC_000019.10:g.49560039G>A	ExAC,TOPMed,gnomAD
rs1009398687	p.Ile33Val	missense variant	-	NC_000019.10:g.49560013T>C	TOPMed
rs1227176476	p.Arg34Gln	missense variant	-	NC_000019.10:g.49560009C>T	gnomAD
rs1275538743	p.Arg34Ter	stop gained	-	NC_000019.10:g.49560010G>A	gnomAD
rs1315160192	p.Ser36Asn	missense variant	-	NC_000019.10:g.49560003C>T	TOPMed,gnomAD
rs1432497287	p.Asp38Asn	missense variant	-	NC_000019.10:g.49559998C>T	TOPMed
rs768366062	p.Val40Met	missense variant	-	NC_000019.10:g.49559992C>T	ExAC,TOPMed,gnomAD
rs760425715	p.Phe43Leu	missense variant	-	NC_000019.10:g.49559981G>C	ExAC,TOPMed,gnomAD
rs775323843	p.Asp44Asn	missense variant	-	NC_000019.10:g.49559980C>T	ExAC,TOPMed,gnomAD
rs1446453191	p.Asp44Ala	missense variant	-	NC_000019.10:g.49559979T>G	TOPMed
rs775323843	p.Asp44His	missense variant	-	NC_000019.10:g.49559980C>G	ExAC,TOPMed,gnomAD
rs1162427500	p.Ser49Thr	missense variant	-	NC_000019.10:g.49559965A>T	gnomAD
rs1385722912	p.His54Tyr	missense variant	-	NC_000019.10:g.49559950G>A	TOPMed,gnomAD
rs1385722912	p.His54Asp	missense variant	-	NC_000019.10:g.49559950G>C	TOPMed,gnomAD
rs779285289	p.Asp55Asn	missense variant	-	NC_000019.10:g.49559947C>T	ExAC,TOPMed,gnomAD
rs1233180989	p.Val57Leu	missense variant	-	NC_000019.10:g.49559941C>G	gnomAD
rs1001952426	p.Val58Leu	missense variant	-	NC_000019.10:g.49559938C>G	TOPMed
rs370833946	p.Thr59Ile	missense variant	-	NC_000019.10:g.49559934G>A	ESP,ExAC,TOPMed,gnomAD
rs370833946	p.Thr59Ser	missense variant	-	NC_000019.10:g.49559934G>C	ESP,ExAC,TOPMed,gnomAD
rs1427534182	p.Pro60Leu	missense variant	-	NC_000019.10:g.49558976G>A	gnomAD
rs1347003747	p.Pro60Ser	missense variant	-	NC_000019.10:g.49558977G>A	gnomAD
rs753806135	p.Tyr63Cys	missense variant	-	NC_000019.10:g.49558967T>C	ExAC,gnomAD
rs1377499726	p.Leu64Gln	missense variant	-	NC_000019.10:g.49558964A>T	TOPMed
rs1462936981	p.Tyr65Cys	missense variant	-	NC_000019.10:g.49558961T>C	TOPMed
rs938456550	p.Arg67His	missense variant	-	NC_000019.10:g.49558955C>T	TOPMed,gnomAD
rs938456550	p.Arg67Leu	missense variant	-	NC_000019.10:g.49558955C>A	TOPMed,gnomAD
rs764184868	p.Arg67Cys	missense variant	-	NC_000019.10:g.49558956G>A	ExAC,TOPMed,gnomAD
rs1477134927	p.Ile70Val	missense variant	-	NC_000019.10:g.49558947T>C	gnomAD
rs755682821	p.His76Tyr	missense variant	-	NC_000019.10:g.49558929G>A	ExAC,TOPMed,gnomAD
rs752257192	p.Lys79Glu	missense variant	-	NC_000019.10:g.49558920T>C	ExAC,gnomAD
rs1253729061	p.Lys79Arg	missense variant	-	NC_000019.10:g.49558919T>C	gnomAD
rs1372396852	p.Lys79Asn	missense variant	-	NC_000019.10:g.49558918C>G	gnomAD
rs767023635	p.Glu80Ala	missense variant	-	NC_000019.10:g.49558916T>G	ExAC,TOPMed,gnomAD
rs759258487	p.Ile81Leu	missense variant	-	NC_000019.10:g.49558914T>G	ExAC
rs1216519575	p.Ala82Val	missense variant	-	NC_000019.10:g.49558910G>A	gnomAD
rs766703222	p.Arg83Gln	missense variant	-	NC_000019.10:g.49558907C>T	ExAC,gnomAD
rs370070206	p.Arg83Trp	missense variant	-	NC_000019.10:g.49558908G>A	ESP,ExAC,TOPMed,gnomAD
rs1463992892	p.Ala87Val	missense variant	-	NC_000019.10:g.49557248G>A	gnomAD
rs1367188779	p.Tyr88Cys	missense variant	-	NC_000019.10:g.49557245T>C	gnomAD
rs1444763551	p.Glu89Lys	missense variant	-	NC_000019.10:g.49557243C>T	TOPMed,gnomAD
rs1444763551	p.Glu89Ter	stop gained	-	NC_000019.10:g.49557243C>A	TOPMed,gnomAD
rs754491390	p.Lys90Gln	missense variant	-	NC_000019.10:g.49557240T>G	ExAC,gnomAD
rs1436855961	p.Arg92Gln	missense variant	-	NC_000019.10:g.49557233C>T	gnomAD
rs1176453226	p.Arg92Trp	missense variant	-	NC_000019.10:g.49557234G>A	gnomAD
rs1309230211	p.Gly93Arg	missense variant	-	NC_000019.10:g.49557231C>G	TOPMed
rs1250973102	p.Thr94Ile	missense variant	-	NC_000019.10:g.49557227G>A	TOPMed,gnomAD
rs1487476518	p.Arg95Pro	missense variant	-	NC_000019.10:g.49557224C>G	gnomAD
rs200238455	p.Arg95Gly	missense variant	-	NC_000019.10:g.49557225G>C	ESP,ExAC,TOPMed,gnomAD
rs200238455	p.Arg95Trp	missense variant	-	NC_000019.10:g.49557225G>A	ESP,ExAC,TOPMed,gnomAD
rs1325369637	p.Arg96Cys	missense variant	-	NC_000019.10:g.49557222G>A	TOPMed
rs151017072	p.Glu97Lys	missense variant	-	NC_000019.10:g.49557219C>T	ExAC,TOPMed,gnomAD
rs151017072	p.Glu97Gln	missense variant	-	NC_000019.10:g.49557219C>G	ExAC,TOPMed,gnomAD
rs762403392	p.Gln99His	missense variant	-	NC_000019.10:g.49557211C>A	ExAC,TOPMed
rs762403392	p.Gln99His	missense variant	-	NC_000019.10:g.49557211C>G	ExAC,TOPMed
rs768749037	p.Lys100Asn	missense variant	-	NC_000019.10:g.49557208C>G	ExAC,gnomAD
rs776532299	p.Lys100Glu	missense variant	-	NC_000019.10:g.49557210T>C	ExAC,TOPMed
rs1011408552	p.Ala105Val	missense variant	-	NC_000019.10:g.49557194G>A	TOPMed,gnomAD
rs1011408552	p.Ala105Gly	missense variant	-	NC_000019.10:g.49557194G>C	TOPMed,gnomAD
rs199804285	p.Ser107Leu	missense variant	-	NC_000019.10:g.49557188G>A	ESP,ExAC,TOPMed,gnomAD
rs1303135812	p.Gln108Ter	stop gained	-	NC_000019.10:g.49557186G>A	gnomAD
rs1386623628	p.His110Arg	missense variant	-	NC_000019.10:g.49557179T>C	TOPMed,gnomAD
rs138001141	p.His110Tyr	missense variant	-	NC_000019.10:g.49557180G>A	ESP,ExAC,TOPMed,gnomAD
rs769816516	p.Arg112Trp	missense variant	-	NC_000019.10:g.49557174G>A	ExAC,gnomAD
rs1469318896	p.Arg112Gln	missense variant	-	NC_000019.10:g.49557173C>T	TOPMed,gnomAD
rs1186539310	p.Gly113Val	missense variant	-	NC_000019.10:g.49557170C>A	TOPMed,gnomAD
rs1186539310	p.Gly113Asp	missense variant	-	NC_000019.10:g.49557170C>T	TOPMed,gnomAD
rs751092563	p.Lys117Thr	missense variant	-	NC_000019.10:g.49557158T>G	ExAC,TOPMed,gnomAD
rs751092563	p.Lys117Arg	missense variant	-	NC_000019.10:g.49557158T>C	ExAC,TOPMed,gnomAD
rs779613179	p.Ser119Thr	missense variant	-	NC_000019.10:g.49557153A>T	ExAC,gnomAD
rs758056354	p.Ser119Ter	stop gained	-	NC_000019.10:g.49557152G>T	ExAC,gnomAD
rs754347770	p.Ile121Val	missense variant	-	NC_000019.10:g.49557147T>C	ExAC,TOPMed
rs754347770	p.Ile121Phe	missense variant	-	NC_000019.10:g.49557147T>A	ExAC,TOPMed
rs201976944	p.Val122Met	missense variant	-	NC_000019.10:g.49557144C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201976944	p.Val122Leu	missense variant	-	NC_000019.10:g.49557144C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201976944	p.Val122Leu	missense variant	-	NC_000019.10:g.49557144C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1350273519	p.Ser123Asn	missense variant	-	NC_000019.10:g.49557140C>T	gnomAD
rs772372595	p.Arg124Gln	missense variant	-	NC_000019.10:g.49557137C>T	ExAC,gnomAD
rs775726917	p.Arg124Trp	missense variant	-	NC_000019.10:g.49557138G>A	ExAC,gnomAD
rs375469093	p.Leu126Phe	missense variant	-	NC_000019.10:g.49557132G>A	TOPMed,gnomAD
rs375469093	p.Leu126Ile	missense variant	-	NC_000019.10:g.49557132G>T	TOPMed,gnomAD
rs769613583	p.Asn127Lys	missense variant	-	NC_000019.10:g.49557127G>C	ExAC,TOPMed,gnomAD
rs1406091463	p.Pro128Thr	missense variant	-	NC_000019.10:g.49557126G>T	gnomAD
rs944633904	p.Pro128His	missense variant	-	NC_000019.10:g.49557125G>T	TOPMed,gnomAD
rs747954571	p.Thr130Ile	missense variant	-	NC_000019.10:g.49557119G>A	ExAC,gnomAD
rs1399569740	p.Ala131Thr	missense variant	-	NC_000019.10:g.49557117C>T	gnomAD
rs1259184349	p.Lys132Glu	missense variant	-	NC_000019.10:g.49557114T>C	gnomAD
rs919275543	p.Leu134Phe	missense variant	-	NC_000019.10:g.49557108G>A	TOPMed
rs768477864	p.Ser135Leu	missense variant	-	NC_000019.10:g.49557104G>A	ExAC,TOPMed,gnomAD
rs1481391496	p.Thr137Ile	missense variant	-	NC_000019.10:g.49557098G>A	gnomAD
rs1199807755	p.Thr137Ala	missense variant	-	NC_000019.10:g.49557099T>C	gnomAD
rs376597835	p.Gly140Asp	missense variant	-	NC_000019.10:g.49557089C>T	ESP,ExAC,TOPMed,gnomAD
rs578168985	p.Asp141Glu	missense variant	-	NC_000019.10:g.49557085G>C	1000Genomes,ExAC,gnomAD
rs1285034160	p.Asp141Asn	missense variant	-	NC_000019.10:g.49557087C>T	TOPMed,gnomAD
rs1321589931	p.Ser142Leu	missense variant	-	NC_000019.10:g.49557083G>A	gnomAD
rs753236913	p.Asp143Gly	missense variant	-	NC_000019.10:g.49556993T>C	ExAC,TOPMed,gnomAD
rs753236913	p.Asp143Ala	missense variant	-	NC_000019.10:g.49556993T>G	ExAC,TOPMed,gnomAD
rs753236913	p.Asp143Val	missense variant	-	NC_000019.10:g.49556993T>A	ExAC,TOPMed,gnomAD
rs768200508	p.Asp144His	missense variant	-	NC_000019.10:g.49556991C>G	ExAC,gnomAD
rs755108331	p.Val145Ile	missense variant	-	NC_000019.10:g.49556988C>T	ExAC,gnomAD
rs751690144	p.Gln146His	missense variant	-	NC_000019.10:g.49556983T>G	ExAC,TOPMed,gnomAD
rs1415409021	p.Gln146Arg	missense variant	-	NC_000019.10:g.49556984T>C	gnomAD
rs1175119319	p.Pro147Thr	missense variant	-	NC_000019.10:g.49556982G>T	gnomAD
rs1170597053	p.Gly152Val	missense variant	-	NC_000019.10:g.49556966C>A	gnomAD
rs766561412	p.Gly152Cys	missense variant	-	NC_000019.10:g.49556967C>A	ExAC,gnomAD
rs763103809	p.Pro154Ser	missense variant	-	NC_000019.10:g.49556961G>A	ExAC,TOPMed,gnomAD
rs763763680	p.Ser155Asn	missense variant	-	NC_000019.10:g.49556957C>T	ExAC,TOPMed,gnomAD
rs1484357222	p.Asp157Gly	missense variant	-	NC_000019.10:g.49556951T>C	gnomAD
rs1231543334	p.Asp157Glu	missense variant	-	NC_000019.10:g.49556950G>T	gnomAD
rs368503120	p.Lys158Asn	missense variant	-	NC_000019.10:g.49556947C>A	ESP,ExAC,gnomAD
rs555883614	p.Val161Met	missense variant	-	NC_000019.10:g.49556940C>T	1000Genomes,ExAC,gnomAD
rs1275773136	p.Leu162Met	missense variant	-	NC_000019.10:g.49556937G>T	gnomAD
rs990830867	p.Pro163Leu	missense variant	-	NC_000019.10:g.49556933G>A	TOPMed
rs758989830	p.Pro168Leu	missense variant	-	NC_000019.10:g.49556918G>A	ExAC,gnomAD
rs17850728	p.Thr171Met	missense variant	-	NC_000019.10:g.49556909G>A	-
rs1442609579	p.Glu173Lys	missense variant	-	NC_000019.10:g.49556904C>T	gnomAD
rs1356027900	p.Lys175Arg	missense variant	-	NC_000019.10:g.49556897T>C	gnomAD
rs957992254	p.Lys178Arg	missense variant	-	NC_000019.10:g.49556888T>C	TOPMed
rs1423911495	p.Pro182Thr	missense variant	-	NC_000019.10:g.49556877G>T	gnomAD
rs770327606	p.Arg184Leu	missense variant	-	NC_000019.10:g.49556732C>A	ExAC,TOPMed,gnomAD
rs1360034901	p.Arg184Cys	missense variant	-	NC_000019.10:g.49556733G>A	gnomAD
rs376400410	p.Thr185Met	missense variant	-	NC_000019.10:g.49556729G>A	ESP,ExAC,TOPMed,gnomAD
rs769578558	p.Thr187Ile	missense variant	-	NC_000019.10:g.49556723G>A	ExAC,gnomAD
rs748461813	p.Pro189Leu	missense variant	-	NC_000019.10:g.49556717G>A	ExAC,gnomAD
rs1427254646	p.Met190Ile	missense variant	-	NC_000019.10:g.49556713C>T	gnomAD
rs141077974	p.Met190Thr	missense variant	-	NC_000019.10:g.49556714A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1260438688	p.Gly192Arg	missense variant	-	NC_000019.10:g.49556709C>G	gnomAD
rs1490492312	p.Lys193Glu	missense variant	-	NC_000019.10:g.49556706T>C	TOPMed
rs769242681	p.Pro194Leu	missense variant	-	NC_000019.10:g.49556702G>A	ExAC,gnomAD
rs1324072664	p.Arg196Cys	missense variant	-	NC_000019.10:g.49556697G>A	gnomAD
rs1225154501	p.Met197Ile	missense variant	-	NC_000019.10:g.49556692C>T	gnomAD
rs924569928	p.Met197Leu	missense variant	-	NC_000019.10:g.49556694T>G	gnomAD
rs747441040	p.Ser198Leu	missense variant	-	NC_000019.10:g.49556690G>A	ExAC,TOPMed,gnomAD
rs747441040	p.Ser198Trp	missense variant	-	NC_000019.10:g.49556690G>C	ExAC,TOPMed,gnomAD
rs1452177977	p.Pro202Ser	missense variant	-	NC_000019.10:g.49556679G>A	gnomAD
rs757747143	p.Val203Leu	missense variant	-	NC_000019.10:g.49556676C>G	ExAC,TOPMed,gnomAD
rs865863056	p.Pro207Leu	missense variant	-	NC_000019.10:g.49556663G>A	TOPMed
rs528844653	p.Pro207Ala	missense variant	-	NC_000019.10:g.49556664G>C	1000Genomes
rs991270581	p.Asp209Glu	missense variant	-	NC_000019.10:g.49556656G>C	gnomAD
rs1365701396	p.Ser210Thr	missense variant	-	NC_000019.10:g.49556654C>G	TOPMed
rs1450844850	p.Arg214Cys	missense variant	-	NC_000019.10:g.49556643G>A	gnomAD
rs757493593	p.Leu217Phe	missense variant	-	NC_000019.10:g.49556634G>A	ExAC,TOPMed,gnomAD
rs752451382	p.Thr219Asn	missense variant	-	NC_000019.10:g.49556627G>T	ExAC,gnomAD
rs752451382	p.Thr219Ile	missense variant	-	NC_000019.10:g.49556627G>A	ExAC,gnomAD
rs767271460	p.Arg220Gly	missense variant	-	NC_000019.10:g.49556625G>C	ExAC,gnomAD
rs767271460	p.Arg220Cys	missense variant	-	NC_000019.10:g.49556625G>A	ExAC,gnomAD
rs1343983191	p.Ser221Cys	missense variant	-	NC_000019.10:g.49556622T>A	TOPMed
rs759426411	p.Glu222Gln	missense variant	-	NC_000019.10:g.49556619C>G	ExAC,gnomAD
rs958721605	p.Tyr224Ter	stop gained	-	NC_000019.10:g.49556611G>C	TOPMed,gnomAD
rs751441811	p.Val225Met	missense variant	-	NC_000019.10:g.49556610C>T	ExAC,TOPMed,gnomAD
rs1207189854	p.Cys226Ser	missense variant	-	NC_000019.10:g.49556607A>T	gnomAD
rs772788289	p.Val228Met	missense variant	-	NC_000019.10:g.49556601C>T	ExAC,TOPMed,gnomAD
rs764930641	p.Thr229Asn	missense variant	-	NC_000019.10:g.49556597G>T	ExAC,gnomAD
rs369839191	p.Arg230His	missense variant	-	NC_000019.10:g.49556594C>T	ESP,ExAC,gnomAD
rs1341234051	p.Arg230Cys	missense variant	-	NC_000019.10:g.49556595G>A	gnomAD
rs747462873	p.Asp231His	missense variant	-	NC_000019.10:g.49556592C>G	ExAC,gnomAD
rs747462873	p.Asp231Asn	missense variant	-	NC_000019.10:g.49556592C>T	ExAC,gnomAD
rs775855155	p.Ser232Asn	missense variant	-	NC_000019.10:g.49556588C>T	ExAC,gnomAD
rs966801837	p.Ser234Arg	missense variant	-	NC_000019.10:g.49556581G>T	TOPMed
rs772637224	p.Asn235Ser	missense variant	-	NC_000019.10:g.49556579T>C	ExAC,gnomAD
rs749491556	p.Pro238Arg	missense variant	-	NC_000019.10:g.49556570G>C	ExAC,gnomAD
rs757369043	p.Pro238Ala	missense variant	-	NC_000019.10:g.49556571G>C	ExAC,TOPMed,gnomAD
rs1008745775	p.Ala240Thr	missense variant	-	NC_000019.10:g.49556565C>T	TOPMed,gnomAD
rs781518095	p.Arg243Leu	missense variant	-	NC_000019.10:g.49556555C>A	TOPMed,gnomAD
rs781518095	p.Arg243Gln	missense variant	-	NC_000019.10:g.49556555C>T	TOPMed,gnomAD
rs754728597	p.Pro244Thr	missense variant	-	NC_000019.10:g.49556553G>T	ExAC,TOPMed,gnomAD
rs1435309155	p.Gly246Glu	missense variant	-	NC_000019.10:g.49556423C>T	gnomAD
rs1478929902	p.Ala247Thr	missense variant	-	NC_000019.10:g.49556421C>T	TOPMed,gnomAD
rs750366685	p.Val249Leu	missense variant	-	NC_000019.10:g.49556415C>G	ExAC,gnomAD
rs779054554	p.Leu251Phe	missense variant	-	NC_000019.10:g.49556409G>A	ExAC,TOPMed,gnomAD
rs756824747	p.Glu252Asp	missense variant	-	NC_000019.10:g.49556404T>A	ExAC,gnomAD
rs1210802336	p.Cys253Arg	missense variant	-	NC_000019.10:g.49556403A>G	TOPMed,gnomAD
rs1417952554	p.Val254Ala	missense variant	-	NC_000019.10:g.49556399A>G	gnomAD
rs760406810	p.Val254Met	missense variant	-	NC_000019.10:g.49556400C>T	ExAC,TOPMed,gnomAD
rs760406810	p.Val254Leu	missense variant	-	NC_000019.10:g.49556400C>A	ExAC,TOPMed,gnomAD
rs142202252	p.Glu255Asp	missense variant	-	NC_000019.10:g.49556395C>G	ESP,ExAC,TOPMed,gnomAD
rs1462374780	p.Arg259Trp	missense variant	-	NC_000019.10:g.49556385G>A	TOPMed
rs1347687821	p.Asp261Ala	missense variant	-	NC_000019.10:g.49556378T>G	gnomAD
rs1201431638	p.Asp261Asn	missense variant	-	NC_000019.10:g.49556379C>T	TOPMed
rs1478182768	p.Met262Val	missense variant	-	NC_000019.10:g.49556376T>C	TOPMed,gnomAD
rs1226008214	p.Asp264Glu	missense variant	-	NC_000019.10:g.49556368G>T	TOPMed,gnomAD
rs767900611	p.Asp264Asn	missense variant	-	NC_000019.10:g.49556370C>T	ExAC,TOPMed,gnomAD
rs1365252524	p.Val266Gly	missense variant	-	NC_000019.10:g.49556363A>C	TOPMed,gnomAD
rs537534103	p.Asp269Asn	missense variant	-	NC_000019.10:g.49556355C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1450006020	p.Lys270Glu	missense variant	-	NC_000019.10:g.49556352T>C	gnomAD
rs774833205	p.Leu271Ile	missense variant	-	NC_000019.10:g.49556349G>T	ExAC,gnomAD
rs1158879379	p.Thr272Lys	missense variant	-	NC_000019.10:g.49556345G>T	TOPMed
rs762959254	p.Arg274Cys	missense variant	-	NC_000019.10:g.49556340G>A	ExAC,TOPMed,gnomAD
rs773298711	p.Arg274Leu	missense variant	-	NC_000019.10:g.49556339C>A	ExAC,gnomAD
rs769870703	p.Ile276Val	missense variant	-	NC_000019.10:g.49556334T>C	ExAC,gnomAD
rs748374339	p.Ile277Val	missense variant	-	NC_000019.10:g.49556331T>C	ExAC,TOPMed,gnomAD
rs1334993781	p.Ile277Thr	missense variant	-	NC_000019.10:g.49556330A>G	TOPMed
rs1442939703	p.Gln280Arg	missense variant	-	NC_000019.10:g.49556321T>C	gnomAD
rs1237282977	p.Arg281Trp	missense variant	-	NC_000019.10:g.49556319G>A	gnomAD
rs1211204224	p.Arg281Gln	missense variant	-	NC_000019.10:g.49556318C>T	gnomAD
rs764364369	p.Thr284Ala	missense variant	-	NC_000019.10:g.49555816T>C	ExAC,gnomAD
rs1228739217	p.Ala287Val	missense variant	-	NC_000019.10:g.49555806G>A	gnomAD
rs770835468	p.Ala287Ser	missense variant	-	NC_000019.10:g.49555807C>A	ExAC,gnomAD
rs769628946	p.Gly290Arg	missense variant	-	NC_000019.10:g.49555798C>T	ExAC,gnomAD
rs780594414	p.Ala295Val	missense variant	-	NC_000019.10:g.49555782G>A	ExAC,gnomAD
rs746645712	p.Arg299Pro	missense variant	-	NC_000019.10:g.49555770C>G	ExAC,gnomAD
rs1343613784	p.Pro300Gln	missense variant	-	NC_000019.10:g.49555767G>T	gnomAD
rs765719587	p.Ala304Thr	missense variant	-	NC_000019.10:g.49555756C>T	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0206663	Neuroectodermal Tumor, Primitive	disease	BEFREE
C4048305	Neuroepithelioma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-202131	Metabolism of nitric oxide: eNOS activation and regulation	TAS
R-HSA-203754	NOSIP mediated eNOS trafficking	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of NOSIP mRNA	21346803
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of NOSIP mRNA	16788091
C496492	abrine	abrine results in increased expression of NOSIP mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of NOSIP mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of NOSIP mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of NOSIP mRNA	19770486
C006780	bisphenol A	bisphenol A affects the expression of NOSIP mRNA	21786754
C006780	bisphenol A	bisphenol A results in increased expression of NOSIP mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of NOSIP gene	28505145
C018475	butyraldehyde	butyraldehyde results in increased expression of NOSIP mRNA	26079696
C584509	C646 compound	C646 compound results in decreased expression of NOSIP mRNA	26191083
D002104	Cadmium	Cadmium results in decreased expression of NOSIP mRNA	24084258
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of NOSIP mRNA	23650126
D002994	Clofibrate	Clofibrate results in decreased expression of NOSIP mRNA	23811191
D003300	Copper	[Disulfiram binds to Copper] which results in decreased expression of NOSIP mRNA	24690739
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of NOSIP mRNA	17361019; 21266533;
D004147	Dioxins	Dioxins affects the expression of NOSIP mRNA	20463971
D004221	Disulfiram	[Disulfiram binds to Copper] which results in decreased expression of NOSIP mRNA	24690739
D004317	Doxorubicin	Doxorubicin results in decreased expression of NOSIP mRNA	29803840
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of NOSIP protein	23301498
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of NOSIP mRNA	23129252
D005485	Flutamide	Flutamide results in increased expression of NOSIP mRNA	24136188
C492448	ICG 001	ICG 001 results in decreased expression of NOSIP mRNA	26191083
D007213	Indomethacin	Indomethacin results in increased expression of NOSIP mRNA	28201806
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of NOSIP mRNA	23086925
D019344	Lactic Acid	Lactic Acid results in decreased expression of NOSIP mRNA	30851411
D007854	Lead	Lead affects the expression of NOSIP mRNA	28903495
C000622638	MLN7243	MLN7243 results in increased sumoylation of NOSIP protein	31285264
D010269	Paraquat	Paraquat results in increased expression of NOSIP mRNA	20388547
C031181	phenanthrene	phenanthrene results in decreased expression of NOSIP mRNA	19457238
C014153	pirimiphos methyl	pirimiphos methyl results in decreased expression of NOSIP mRNA	27845199
D012524	Sarin	Sarin results in increased expression of NOSIP mRNA	19522546
D012643	Selenium	[Selenium co-treated with Vitamin E] results in increased expression of NOSIP mRNA	19244175
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of NOSIP mRNA	21570461
C012589	trichostatin A	trichostatin A affects the expression of NOSIP mRNA	28542535
D014520	Urethane	Urethane results in increased expression of NOSIP mRNA	28818685
D014635	Valproic Acid	Valproic Acid results in increased expression of NOSIP mRNA	22083351
D014635	Valproic Acid	Valproic Acid results in increased methylation of NOSIP gene	29154799
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of NOSIP gene	25560391
D014810	Vitamin E	[Selenium co-treated with Vitamin E] results in increased expression of NOSIP mRNA	19244175
D014810	Vitamin E	Vitamin E results in increased expression of NOSIP mRNA	19244175
D000077337	Vorinostat	Vorinostat results in increased expression of NOSIP mRNA	22083351

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0539	Nucleus
KW-1267	Proteomics identification
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR016818	NOSIP
IPR031790	Znf-NOSIP
IPR013083	Znf_RING/FYVE/PHD

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF15906	zf-NOSIP

Gene: NOSIP

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