IRAG1 (inositol 1,4,5-triphosphate receptor associated 1)

2003-02-01  

Identity

HGNC
LOCATION
11p15.4
LOCUSID
ALIAS
IRAG,JAW1L,MRVI1
FUSION GENES

Other Information

Locus ID:

NCBI: 10335
MIM: 604673
HGNC: 7237
Ensembl: ENSG00000072952

Variants:

dbSNP: 10335
ClinVar: 10335
TCGA: ENSG00000072952
COSMIC: IRAG1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072952ENST00000423302Q9Y6F6
ENSG00000072952ENST00000424001Q9Y6F6
ENSG00000072952ENST00000526414E9PJ61
ENSG00000072952ENST00000527509H0YI08
ENSG00000072952ENST00000529068H0YDM7
ENSG00000072952ENST00000529448E9PNK7
ENSG00000072952ENST00000529547E9PRG4
ENSG00000072952ENST00000531107Q9Y6F6
ENSG00000072952ENST00000531308E9PRH0
ENSG00000072952ENST00000533631H0YCL0
ENSG00000072952ENST00000534266Q9Y6F6
ENSG00000072952ENST00000541483Q9Y6F6
ENSG00000072952ENST00000547195Q9Y6F6
ENSG00000072952ENST00000558540Q9Y6F6

Pathways

PathwaySourceExternal ID
Vascular smooth muscle contractionKEGGhsa04270
Vascular smooth muscle contractionKEGGko04270
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Nitric oxide stimulates guanylate cyclaseREACTOMER-HSA-392154
cGMP effectsREACTOMER-HSA-418457

References

Pubmed IDYearTitleCitations
325731022020Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.2
325890662020P53-induced MRVI1 mediates carcinogenesis of colorectal cancer.3
325731022020Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.2
325890662020P53-induced MRVI1 mediates carcinogenesis of colorectal cancer.3
310857182019miR-940 potentially promotes proliferation and metastasis of endometrial carcinoma through regulation of MRVI1.20
310857182019miR-940 potentially promotes proliferation and metastasis of endometrial carcinoma through regulation of MRVI1.20
300013482018Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.14
300013482018Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1.14
218655852011Truncated IRAG variants modulate cGMP-mediated inhibition of human colonic smooth muscle cell contraction.3
218655852011Truncated IRAG variants modulate cGMP-mediated inhibition of human colonic smooth muscle cell contraction.3
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.57
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205263382010Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.122
205672332010Functional osteoclast attachment requires inositol-1,4,5-trisphosphate receptor-associated cGMP-dependent kinase substrate.9
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.57

Citation

Dessen P

IRAG1 (inositol 1,4,5-triphosphate receptor associated 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41431/irag1-(inositol-1-4-5-triphosphate-receptor-associated-1)