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

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10335
Gene name Inositol 1,4,5-triphosphate receptor associated 1
Gene symbol IRAG1
Synonyms (NCBI Gene)
IRAGJAW1LMRVI1
Chromosome 11
Chromosome location 11p15.4
Summary 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604673 7237 ENSG00000072952
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (14)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma GWASCAT_DG 30929738, 31619474
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blood Platelet Disorders Platelet disorder Pubtator 20526338, 29865896 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood asthma Asthma GWASCAT_DG 30929738
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease Pubtator 28209224 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease Coronary artery disease BEFREE 29601927
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Down Syndrome Down syndrome Pubtator 39367156 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 31085718
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Endometrial neoplasm Pubtator 31085718 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Idiopathic Pulmonary Fibrosis Idiopathic pulmonary fibrosis Pubtator 36035368 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 10321731
★★★★★
★☆☆☆☆
Found in Text Mining only