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-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent... See more...

Aliases for IRAG1 Gene

Aliases for IRAG1 Gene

  • Inositol 1,4,5-Triphosphate Receptor Associated 1 2 3 4
  • Murine Retrovirus Integration Site 1 Homolog 2 3 5
  • JAW1L 2 3 4
  • MRVI1 3 4 5
  • IRAG 2 3 4
  • Inositol 1,4,5-Trisphosphate Receptor-Associated CGMP Kinase Substrate 3 4
  • IP3R-Associated CGMP Kinase Substrate 2 3
  • JAW1-Related Protein MRVI1 3 4
  • Inositol 1,4,5-Triphosphate Receptor-Associated CGMP Kinase Substrate 3
  • Inositol 1,4,5-Triphosphate-Associated CGMP Kinase Substrate 2
  • Protein MRVI1 4

External Ids for IRAG1 Gene

Previous HGNC Symbols for IRAG1 Gene

  • MRVI1

Summaries for IRAG1 Gene

Entrez Gene Summary for IRAG1 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-restricted protein whose expression is down-regulated during lymphoid differentiation. This protein is a substrate of cGMP-dependent kinase-1 (PKG1) that can function as a regulator of IP3-induced calcium release. Studies in mouse suggest that MRV integration at Mrvi1 induces myeloid leukemia by altering the expression of a gene important for myeloid cell growth and/or differentiation, and thus this gene may function as a myeloid leukemia tumor suppressor gene. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene, and alternative translation start sites, including a non-AUG (CUG) start site, are used. [provided by RefSeq, May 2011]

GeneCards Summary for IRAG1 Gene

IRAG1 (Inositol 1,4,5-Triphosphate Receptor Associated 1) is a Protein Coding gene. Diseases associated with IRAG1 include Moyamoya Disease 1. Among its related pathways are Nitric oxide stimulates guanylate cyclase and Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is IRAG2.

UniProtKB/Swiss-Prot Summary for IRAG1 Gene

  • 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 the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Mediates also NO-dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation.

Gene Wiki entry for IRAG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRAG1 Gene

Genomics for IRAG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IRAG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J010598 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 610.5 +89.0 88953 12.2 GATAD2A RCOR2 PKNOX1 ZNF24 SOX6 CEBPA FOXK2 MNT NRF1 SOX13 IRAG1 IRAG1-AS1 CTR9 RNF141 LYVE1 lnc-RNF141-1
GH11J010691 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -0.2 -213 7.6 NR2C2 POLR2A ZFP91 VEZF1 SMARCA4 IRAG1 lnc-LYVE1-1 LYVE1 RNF141 piR-36588-057 CTR9
GH11J010578 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 610.4 +112.0 111988 7.2 IKZF1 ETV6 JUND MTA2 DPF2 HDAC1 SOX6 EP300 CTBP1 NFE2 IRAG1 IRAG1-AS1 LYVE1 CTR9 RNF141 lnc-RNF141-1
GH11J010728 Promoter/Enhancer 1.2 EPDnew ENCODE CraniofacialAtlas 611.1 -35.3 -35311 1.3 POLR2A CEBPB USF1 ETS1 SIN3A ZNF398 ZNF143 TAF1 TBP USF2 IRAG1 LYVE1 ENSG00000206858 CTR9
GH11J010651 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.5 +37.2 37225 9.9 SP1 GATAD2A CTCF ZNF512 LEF1 IKZF1 JUND DDX20 MTA2 RELA IRAG1 LYVE1 CTR9 MTRNR2L8 IRAG1-AS1 ADM lnc-LYVE1-1 piR-61101-081
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IRAG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRAG1

Genomic Locations for IRAG1 Gene

Genomic Locations for IRAG1 Gene
chr11:10,573,091-10,693,988
(GRCh38/hg38)
Size:
120,898 bases
Orientation:
Minus strand
chr11:10,594,638-10,715,535
(GRCh37/hg19)
Size:
120,898 bases
Orientation:
Minus strand

Genomic View for IRAG1 Gene

Genes around IRAG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRAG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRAG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRAG1 Gene

Proteins for IRAG1 Gene

  • Protein details for IRAG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6F6-IRAG1_HUMAN
    Recommended name:
    Inositol 1,4,5-triphosphate receptor associated 1
    Protein Accession:
    Q9Y6F6
    Secondary Accessions:
    • B7Z3T4
    • B7Z6I2
    • B7Z9A3
    • E9PQY6
    • F5H6A1
    • J3KQZ7
    • Q17S00
    • Q9UNY1

    Protein attributes for IRAG1 Gene

    Size:
    904 amino acids
    Molecular mass:
    97957 Da
    Quaternary structure:
    • Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1 (By similarity). Interacts with PRKG1/cGKI-beta and ITPR1/IP3R type I.
    SequenceCaution:
    • Sequence=AAD25922.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAD25923.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.; Evidence={ECO:0000305};

    Alternative splice isoforms for IRAG1 Gene

neXtProt entry for IRAG1 Gene

Post-translational modifications for IRAG1 Gene

  • Phosphorylated by PRKG1/cGKI-beta; Ser-386 showed constitutive phosphorylation in platelets whereas Ser-676 is only phosphorylated in presence of cGMP and nitric oxide (NO); Ser-689 is phosphorylated in resting platelets but increases in presence of cGMP and NO. PRKG1 inhibitor prevents phosphorylation of Ser-676 and Ser-689 in response to NO and cGMP.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for IRAG1 Gene

Domains & Families for IRAG1 Gene

Gene Families for IRAG1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for IRAG1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IRAG1 Gene

GenScript: Design optimal peptide antigens:
  • JAW1-related protein MRVI1 (MRVI1_HUMAN)
genes like me logo Genes that share domains with IRAG1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IRAG1 Gene

Function for IRAG1 Gene

Molecular function for IRAG1 Gene

UniProtKB/Swiss-Prot 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 the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Mediates also NO-dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation.
UniProtKB/Swiss-Prot Induction:
By silencing of the transcription factor BTF3.

Phenotypes From GWAS Catalog for IRAG1 Gene

Gene Ontology (GO) - Molecular Function for IRAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16990611
genes like me logo Genes that share ontologies with IRAG1: view
genes like me logo Genes that share phenotypes with IRAG1: view

Animal Models for IRAG1 Gene

MGI Knock Outs for IRAG1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRAG1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IRAG1 Gene

Localization for IRAG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRAG1 Gene

Cytoplasm, perinuclear region. Sarcoplasmic reticulum. Membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRAG1 gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
golgi apparatus 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IRAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS 10321731
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016529 sarcoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with IRAG1: view

Pathways & Interactions for IRAG1 Gene

genes like me logo Genes that share pathways with IRAG1: view

Pathways by source for IRAG1 Gene

SIGNOR curated interactions for IRAG1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for IRAG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019934 cGMP-mediated signaling IBA 21873635
genes like me logo Genes that share ontologies with IRAG1: view

Drugs & Compounds for IRAG1 Gene

(2) Drugs for IRAG1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bradykinin Investigational Pharma Agonist, Full agonist Endogenous agonist at bradykinin receptors (B2 > B1) 60
Calcium Nutra 6556
genes like me logo Genes that share compounds with IRAG1: view

Transcripts for IRAG1 Gene

mRNA/cDNA for IRAG1 Gene

6 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRAG1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IRAG1 Gene

No ASD Table

Relevant External Links for IRAG1 Gene

GeneLoc Exon Structure for
IRAG1

Expression for IRAG1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IRAG1

SOURCE GeneReport for Unigene cluster for IRAG1 Gene:

Hs.501898

mRNA Expression by UniProt/SwissProt for IRAG1 Gene:

Q9Y6F6-IRAG1_HUMAN
Tissue specificity: Expressed in the colon, rectum, and cultured colonic smooth muscle. Detected in various cancer cell lines.

Evidence on tissue expression from TISSUES for IRAG1 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Blood(2.7)
  • Muscle(2.3)
  • Heart(2)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for IRAG1 Gene

Orthologs for IRAG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IRAG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRVI1 30 31
  • 99.09 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRVI1 30 31
  • 89.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRVI1 30 31
  • 89.32 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 71 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Mrvi1 30 17 31
  • 83.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrvi1 30
  • 83.11 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRVI1 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRVI1 30 31
  • 64.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRVI1 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrvi1 30
  • 60.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3247 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100331961 30
  • 57.14 (n)
mrvi1 31
  • 26 (a)
OneToOne
Species where no ortholog for IRAG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IRAG1 Gene

ENSEMBL:
Gene Tree for IRAG1 (if available)
TreeFam:
Gene Tree for IRAG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IRAG1: view image

Paralogs for IRAG1 Gene

Paralogs for IRAG1 Gene

genes like me logo Genes that share paralogs with IRAG1: view

Variants for IRAG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRAG1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
709991 Benign: not provided 10,626,121(-) G/A MISSENSE_VARIANT,INTRON_VARIANT
768427 Benign: not provided 10,652,141(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
780950 Benign: not provided 10,606,732(-) A/C INTRON_VARIANT
786593 Benign: not provided 10,626,251(-) C/G MISSENSE_VARIANT,INTRON_VARIANT
rs2162044 - p.Ala70Thr

Additional dbSNP identifiers (rs#s) for IRAG1 Gene

Structural Variations from Database of Genomic Variants (DGV) for IRAG1 Gene

Variant ID Type Subtype PubMed ID
esv1458526 CNV insertion 17803354
esv3579367 CNV loss 25503493
esv3625361 CNV gain 21293372
nsv1137988 CNV deletion 24896259
nsv475816 CNV novel sequence insertion 20440878
nsv483000 CNV loss 15286789
nsv7676 CNV deletion 18451855
nsv832063 CNV loss 17160897

Variation tolerance for IRAG1 Gene

Residual Variation Intolerance Score: 95.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.55; 77.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IRAG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRAG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRAG1 Gene

Disorders for IRAG1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for IRAG1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
moyamoya disease 1
  • mymy1
- elite association - COSMIC cancer census association via MalaCards
Search IRAG1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with IRAG1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IRAG1 Gene

Publications for IRAG1 Gene

  1. InsP3R-associated cGMP kinase substrate (IRAG) is essential for nitric oxide-induced inhibition of calcium signaling in human colonic smooth muscle. (PMID: 14729908) Fritsch RM … Allescher HD (The Journal of biological chemistry 2004) 3 4 23
  2. Mrvi1, a common MRV integration site in BXH2 myeloid leukemias, encodes a protein with homology to a lymphoid-restricted membrane protein Jaw1. (PMID: 10321731) Shaughnessy JD … Copeland NG (Oncogene 1999) 2 3 4
  3. IRAG mediates NO/cGMP-dependent inhibition of platelet aggregation and thrombus formation. (PMID: 16990611) Antl M … Schlossmann J (Blood 2007) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Association of phospholamban with a cGMP kinase signaling complex. (PMID: 12480535) Koller A … Hofmann F (Biochemical and biophysical research communications 2003) 3 23

Products for IRAG1 Gene

Sources for IRAG1 Gene