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

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10335
Gene name Gene Name - the full gene name approved by the HGNC.
Inositol 1,4,5-triphosphate receptor associated 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRAG1
Synonyms (NCBI Gene) Gene synonyms aliases
IRAG, JAW1L, MRVI1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.4
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restric
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16990611, 32814053
GO:0005737 Component Cytoplasm IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS 10321731
GO:0016020 Component Membrane IEA
GO:0016529 Component Sarcoplasmic reticulum IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604673 7237 ENSG00000072952
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y6F6
Protein name Inositol 1,4,5-triphosphate receptor associated 1 (Inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate) (JAW1-related protein MRVI1) (Protein MRVI1)
Protein function Plays a role as NO/PRKG1-dependent regulator of IP3-induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores. Recruits PRKG1 to the endoplasmic reticulum and may mediate
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05781 MRVI1 318 → 904 MRVI1 protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the colon, rectum, and cultured colonic smooth muscle. Detected in various cancer cell lines. {ECO:0000269|PubMed:10321731, ECO:0000269|PubMed:14729908}.
Sequence 
MGMDLTCPFGISPACGAQASWSIFGADAAEVPGTRGHSQQEAAMPHIPEDEEPPGEPQAA
QSPAGQGPPAAGVSCSPTPTIVLTGDATSPEGETDKNLANRVHSPHKRLSHRHLKVSTAS
LTSVDPAGHIIDLVNDQLPDISISEEDKKKNLALLEEAKLVSERFLTRRGRKSRSSPGDS
PSAVSPNLSPSASPTSSRSNSLTVPTPPGLDVCSGPPSPLPGAPPQQKGDEADVSSPHPG
EPNVPKGLADRKQNDQRKVSQGRLAPRPPPVEKSKEIAIEQKENFDPLQYPETTPKGLAP
VTNSSGKMALNSPQPGPVESELGKQLLKTGWEGSPLPRSPTQDAAGVGPPASQGRGPAGE
PMGPEAGSKAELPPTVSRPPLLRGLSWDSGPEEPGPRLQKVLAKLPLAEEEKRFAGKAGG
KLAKAPGLKDFQIQVQPVRMQKLTKLREEHILMRNQNLVGLKLPDLSEAAEQEKGLPSEL
SPAIEEEESKSGLDVMPNISDVLLRKLRVHRSLPGSAPPLTEKEVENVFVQLSLAFRNDS
YTLESRINQAERERNLTEENTEKELENFKASITSSASLWHHCEHRETYQKLLEDIAVLHR
LAARLSSRAEVVGAVRQEKRMSKATEVMMQYVENLKRTYEKDHAELMEFKKLANQNSSRS
CGPSEDGVPRTARSMSLTLGKNMPRRRVSVAVVPKFNALNLPGQTPSSSSIPSLPALSES
PNGKGSLPVTSALPALLENGKTNGDPDCEASAPALTLSCLEELSQETKARMEEEAYSKGF
QEGLKKTKELQDLKEEEEEQKSESPEEPEEVEETEEEEKGPRSSKLEELVHFLQVMYPKL
CQHWQVIWMMAAVMLVLTVVLGLYNSYNSCAEQADGPLGRSTCSAAQRDSWWSSGLQHEQ
PTEQ
Sequence length 904
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  cGMP-PKG signaling pathway
Vascular smooth muscle contraction 		  cGMP effects
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma (childhood onset), Age of onset of childhood onset asthma, Asthma N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS