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    GIMAP6 GTPase, IMAP family member 6 [ Homo sapiens (human) ]

    Gene ID: 474344, updated on 5-Mar-2024

    Summary

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    Official Symbol
    GIMAP6provided by HGNC
    Official Full Name
    GTPase, IMAP family member 6provided by HGNC
    Primary source
    HGNC:HGNC:21918
    See related
    Ensembl:ENSG00000133561 MIM:616960; AllianceGenome:HGNC:21918
    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
    IAN2; IAN6; IAN-2; IAN-6
    Summary
    This gene encodes a member of the GTPases of immunity-associated proteins (GIMAP) family. GIMAP proteins contain GTP-binding and coiled-coil motifs, and may play roles in the regulation of cell survival. Decreased expression of this gene may play a role in non-small cell lung cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, which is found in a cluster with seven additional GIMAP genes on the long arm of chromosome 7. [provided by RefSeq, Sep 2011]
    Expression
    Broad expression in spleen (RPKM 29.7), lymph node (RPKM 22.3) and 23 other tissues See more
    Orthologs
    all
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    Genomic context

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    Location:
    7q36.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (150625375..150632385, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (151798261..151805271, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150322463..150329473, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 2A pseudogene 2 Neighboring gene TRPC6 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18781 Neighboring gene MPRA-validated peak6843 silencer Neighboring gene MPRA-validated peak6844 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26837 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26838 Neighboring gene uncharacterized LOC124901774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26840 Neighboring gene eukaryotic translation initiation factor 2A pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26841 Neighboring gene GTPase, IMAP family member 2

    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
    • 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. A human case of GIMAP6 deficiency: a novel primary immune deficiency. Shadur B, et al. Eur J Hum Genet, 2021 Apr. PMID 33328581, Free PMC Article
    2. Functional and biochemical characterization of a T cell-associated anti-apoptotic protein, GIMAP6. Ho CH, et al. J Biol Chem, 2017 Jun 2. PMID 28381553, Free PMC Article
    3. Dysregulation of GIMAP genes in non-small cell lung cancer. Shiao YM, et al. Lung Cancer, 2008 Dec. PMID 18462827
    4. GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans. Yao Y, et al. J Exp Med, 2022 Jun 6. PMID 35551368, Free PMC Article
    5. Dysregulation of GTPase IMAP family members in hepatocellular cancer. Huang Z, et al. Mol Med Rep, 2016 Nov. PMID 27667392, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Investigation and verification of GIMAP6 as a robust biomarker for prognosis and tumor immunity in lung adenocarcinoma.
      Title: Investigation and verification of GIMAP6 as a robust biomarker for prognosis and tumor immunity in lung adenocarcinoma.
    2. GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans.
      Title: GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans.
    3. A human case of GIMAP6 deficiency: a novel primary immune deficiency.
      Title: A human case of GIMAP6 deficiency: a novel primary immune deficiency.
    4. GIMAP6 plays a role in modulating immune function and that it does this by controlling cell death and the activation of T cells.
      Title: Functional and biochemical characterization of a T cell-associated anti-apoptotic protein, GIMAP6.
    5. These data,demonstrating the downregulation of the mRNA and protein expression levels of GIMAP5 and GIMAP6 in the tumor tissues and blood of patients with Hepatocellular carcinoma (HCC) , suggested the involvement of GIMAP5 and GIMAP6 in the pathogenesis of HCC, and indicate their possible use as diagnostic markers for HCC.
      Title: Dysregulation of GTPase IMAP family members in hepatocellular cancer.
    6. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of GTPase, IMAP family member 6 (GIMAP6) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22690, DKFZp686A01175

    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 

    General protein information

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    Preferred Names
    GTPase IMAP family member 6
    Names
    immune associated nucleotide 2
    immune associated nucleotide 6
    immune-associated nucleotide-binding protein 6

    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_001244071.2 → NP_001231000.1  GTPase IMAP family member 6 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC060760, DA582331
      Consensus CDS
      CCDS59087.1
      UniProtKB/Swiss-Prot
      Q6P9H5
      Related
      ENSP00000418304.1, ENST00000493969.2

    2. NM_001244072.2 → NP_001231001.1  GTPase IMAP family member 6 isoform 2

      See identical proteins and their annotated locations for NP_001231001.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
      Source sequence(s)
      AK294989, BC060760, DC384795
      Consensus CDS
      CCDS75676.1
      UniProtKB/TrEMBL
      B4DH95, Q8TES8
      Related
      ENSP00000479580.1, ENST00000618759.4
      Conserved Domains (1) summary
      cd01852
      Location:111 → 311
      AIG1; AvrRpt2-Induced Gene 1 (AIG1)

    3. NM_024711.6 → NP_078987.3  GTPase IMAP family member 6 isoform 1

      See identical proteins and their annotated locations for NP_078987.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC060760, CR749355
      Consensus CDS
      CCDS34778.1
      UniProtKB/Swiss-Prot
      C9J7B6, D3DWZ4, Q5ZPR6, Q6P9H5, Q9H612
      UniProtKB/TrEMBL
      A0A090N7V4, B2RBH7, B4DU05
      Related
      ENSP00000330374.5, ENST00000328902.9
      Conserved Domains (1) summary
      cd01852
      Location:41 → 241
      AIG1; AvrRpt2-Induced Gene 1 (AIG1)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      150625375..150632385 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      151798261..151805271 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001007224.1: Suppressed sequence

      Description
      NM_001007224.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P9H5.1 GenPept UniProtKB/Swiss-Prot:Q6P9H5

    Gene LinkOut

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

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