U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 10335, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:7237
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IRAG1 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (10573095..10693755, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (10657620..10778670, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (10594642..10715302, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:10532526-10533436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4437 Neighboring gene ring finger protein 141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4438 Neighboring gene IRAG1 antisense RNA 1 Neighboring gene lymphatic vessel endothelial hyaluronan receptor 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:10615146-10616345 Neighboring gene Sharpr-MPRA regulatory regions 8950 and 14430 Neighboring gene MPRA-validated peak1195 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4441 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:10678394-10679593 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:10680716-10681915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:10696121-10696708 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:10697483-10697984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4444 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:10772162-10772662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4447 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:10785333-10786532 Neighboring gene CTR9 homolog, Paf1/RNA polymerase II complex component Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:10813405-10813954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:10813955-10814504 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      B7Z3T4, B7Z6I2, B7Z9A3, E9PQY6, F5H6A1, J3KQZ7, Q17S00, Q9UNY1, Q9Y6F6
      Related
      ENSP00000432436.1, ENST00000531107.5
      Conserved Domains (2) summary
      PRK08691
      Location:180380
      PRK08691; DNA polymerase III subunits gamma and tau; Validated
      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
      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
      Related
      ENSP00000412130.2, ENST00000423302.7
      Conserved Domains (1) summary
      pfam05781
      Location:326912
      MRVI1; MRVI1 protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      10657620..10778670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)