Format

Send to:

Choose Destination

IRAG1 inositol 1,4,5-triphosphate receptor associated 1 [ Homo sapiens (human) ]

Gene ID: 10335, updated on 20-Jun-2020

Summary

Official Symbol
IRAG1provided by HGNC
Official Full Name
inositol 1,4,5-triphosphate receptor associated 1provided by HGNC
Primary source
HGNC:HGNC:7237
See related
Ensembl:ENSG00000072952 MIM:604673
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IRAG; JAW1L; MRVI1
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-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]
Expression
Broad expression in endometrium (RPKM 35.8), gall bladder (RPKM 20.9) and 19 other tissues See more
Orthologs

Genomic context

See IRAG1 in Genome Data Viewer
Location:
11p15.4
Exon count:
22
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (10573095..10693755, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (10594638..10715535, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ring finger protein 141 Neighboring gene IRAG1 antisense RNA 1 Neighboring gene lymphatic vessel endothelial hyaluronan receptor 1 Neighboring gene CTR9 homolog, Paf1/RNA polymerase II complex component Neighboring gene eukaryotic translation initiation factor 4 gamma 2 Neighboring gene small nucleolar RNA, C/D box 97

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cGMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
platelet dense tubular network membrane TAS
Traceable Author Statement
more info
 
sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
inositol 1,4,5-triphosphate receptor associated 1
Names
IP3R-associated cGMP kinase substrate
JAW1-related protein MRVI1
inositol 1,4,5-triphosphate receptor-associated cGMP kinase substrate
inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate
murine retrovirus integration site 1 homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001098579.3NP_001092049.2  inositol 1,4,5-triphosphate receptor associated 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a, also known as MRVI1A.
    Source sequence(s)
    AC009532
    Consensus CDS
    CCDS44538.2
    UniProtKB/Swiss-Prot
    Q9Y6F6
    Related
    ENSP00000432436.1, ENST00000531107.5
    Conserved Domains (1) summary
    pfam05781
    Location:318904
    MRVI1; MRVI1 protein
  2. NM_001100163.3NP_001093633.1  inositol 1,4,5-triphosphate receptor associated 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC009532
    Consensus CDS
    CCDS44539.1
    UniProtKB/Swiss-Prot
    Q9Y6F6
    Related
    ENSP00000432067.2, ENST00000527509.6
    Conserved Domains (1) summary
    pfam05781
    Location:235821
    MRVI1; MRVI1 protein
  3. NM_001100167.3NP_001093637.1  inositol 1,4,5-triphosphate receptor associated 1 isoform c

    See identical proteins and their annotated locations for NP_001093637.1

    Status: REVIEWED

    Source sequence(s)
    AC009532
    Consensus CDS
    CCDS44540.1
    UniProtKB/Swiss-Prot
    Q9Y6F6
    Related
    ENSP00000453013.1, ENST00000558540.5
    Conserved Domains (1) summary
    pfam05781
    Location:11597
    MRVI1; MRVI1 protein
  4. NM_001206880.2NP_001193809.1  inositol 1,4,5-triphosphate receptor associated 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC009532
    Consensus CDS
    CCDS55745.1
    UniProtKB/Swiss-Prot
    Q9Y6F6
    Related
    ENSP00000437784.1, ENST00000541483.5
    Conserved Domains (1) summary
    pfam05781
    Location:176706
    MRVI1; MRVI1 protein
  5. NM_001206881.2NP_001193810.1  inositol 1,4,5-triphosphate receptor associated 1 isoform c

    See identical proteins and their annotated locations for NP_001193810.1

    Status: REVIEWED

    Source sequence(s)
    AC009532
    Consensus CDS
    CCDS44540.1
    UniProtKB/Swiss-Prot
    Q9Y6F6
    Related
    ENSP00000448278.2, ENST00000547195.5
    Conserved Domains (1) summary
    pfam05781
    Location:11597
    MRVI1; MRVI1 protein
  6. NM_130385.4NP_569056.4  inositol 1,4,5-triphosphate receptor associated 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC009532
    Consensus CDS
    CCDS55746.1
    UniProtKB/Swiss-Prot
    Q9Y6F6
    Related
    ENSP00000412130.2, ENST00000423302.6
    Conserved Domains (1) summary
    pfam05781
    Location:326912
    MRVI1; MRVI1 protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    10573095..10693755 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center