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    GIMAP4 GTPase, IMAP family member 4 [ Homo sapiens (human) ]

    Gene ID: 55303, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GIMAP4provided by HGNC
    Official Full Name
    GTPase, IMAP family member 4provided by HGNC
    Primary source
    HGNC:HGNC:21872
    See related
    Ensembl:ENSG00000133574 MIM:608087; AllianceGenome:HGNC:21872
    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
    IAN1; IAN-1; IMAP4; MSTP062
    Summary
    This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. The encoded protein of this gene may be negatively regulated by T-cell acute lymphocytic leukemia 1 (TAL1). In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lymph node (RPKM 64.9), spleen (RPKM 59.9) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GIMAP4 in Genome Data Viewer
    Location:
    7q36.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (150567390..150573953)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (151745701..151752264)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150264478..150271041)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene aldehyde dehydrogenase 7 family member A1 pseudogene 3 Neighboring gene endogenous retrovirus group K member 19 Env polyprotein-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26835 Neighboring gene eukaryotic translation initiation factor 2A pseudogene 2 Neighboring gene TRPC6 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Prognostic Value of GIMAP4 and Its Role in Promoting Immune Cell Infiltration into Tumor Microenvironment of Lung Adenocarcinoma. Chen S, et al. Biomed Res Int, 2022. PMID 36246963, Free PMC Article
    2. Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease. Lee YJ, et al. Ann Rheum Dis, 2013 Sep 1. PMID 23041938
    3. Tubulin- and actin-associating GIMAP4 is required for IFN-γ secretion during Th cell differentiation. Heinonen MT, et al. Immunol Cell Biol, 2015 Feb. PMID 25287446, Free PMC Article
    4. Quantitative proteomics reveals GIMAP family proteins 1 and 4 to be differentially regulated during human T helper cell differentiation. Filén JJ, et al. Mol Cell Proteomics, 2009 Jan. PMID 18701445, Free PMC Article
    5. Human immune associated nucleotide 1: a member of a new guanosine triphosphatase family expressed in resting T and B cells. Cambot M, et al. Blood, 2002 May 1. PMID 11964296

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prognostic Value of GIMAP4 and Its Role in Promoting Immune Cell Infiltration into Tumor Microenvironment of Lung Adenocarcinoma.
      Title: Prognostic Value of GIMAP4 and Its Role in Promoting Immune Cell Infiltration into Tumor Microenvironment of Lung Adenocarcinoma.
    2. GIMAP4 regulates secretion of cytokines in early differentiating human CD4(+) T helper lymphocytes and in particular the secretion of interferon-gamma also affecting its downstream targets.
      Title: Tubulin- and actin-associating GIMAP4 is required for IFN-γ secretion during Th cell differentiation.
    3. Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease
      Title: Genome-wide association study identifies GIMAP as a novel susceptibility locus for Behcet's disease.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    5. GIMAP1 and GIMAP4 genes are up-regulated by IL-12 and other Th1 differentiation-inducing cytokines in cells induced to differentiate toward Th1 lineage and down-regulated by IL-4 in cells induced to Th2.
      Title: Quantitative proteomics reveals GIMAP family proteins 1 and 4 to be differentially regulated during human T helper cell differentiation.
    6. molecular and genetic properties; expression in resting T- and B-cells and decreased expression during lymphocyte activation
      Title: Human immune associated nucleotide 1: a member of a new guanosine triphosphatase family expressed in resting T and B cells.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11110

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    GTPase IMAP family member 4
    Names
    human immune associated nucleotide 1
    immune-associated nucleotide-binding protein 1
    immunity associated protein 4
    immunity-associated nucleotide 1 protein

    NCBI Reference Sequences (RefSeq)

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    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_001363532.2 → NP_001350461.1  GTPase IMAP family member 4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AF117333, AK301441, DA161191
      Consensus CDS
      CCDS87564.1
      UniProtKB/TrEMBL
      B4DWA5, G5E9W9
      Related
      ENSP00000419545.1, ENST00000461940.5
      Conserved Domains (2) summary
      cd01852
      Location:45 → 245
      AIG1; AvrRpt2-Induced Gene 1 (AIG1)
      cl27055
      Location:217 → 316
      MutS_III; MutS domain III

    2. NM_018326.3 → NP_060796.1  GTPase IMAP family member 4 isoform 1

      See identical proteins and their annotated locations for NP_060796.1

      Status: REVIEWED

      Source sequence(s)
      AF117333, BX476689
      Consensus CDS
      CCDS5904.1
      UniProtKB/Swiss-Prot
      Q9NUV9
      UniProtKB/TrEMBL
      A0A090N7X0, B4DWA5
      Related
      ENSP00000255945.2, ENST00000255945.4
      Conserved Domains (2) summary
      cd01852
      Location:31 → 231
      AIG1; AvrRpt2-Induced Gene 1 (AIG1)
      cl27055
      Location:203 → 302
      MutS_III; MutS domain III

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      150567390..150573953
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      151745701..151752264
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NUV9.1 GenPept UniProtKB/Swiss-Prot:Q9NUV9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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