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GIMAP8 GTPase, IMAP family member 8 [ Homo sapiens (human) ]

Gene ID: 155038, updated on 5-Mar-2024

Summary

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Official Symbol
GIMAP8provided by HGNC
Official Full Name
GTPase, IMAP family member 8provided by HGNC
Primary source
HGNC:HGNC:21792
See related
Ensembl:ENSG00000171115 MIM:616962; AllianceGenome:HGNC:21792
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
IAN6; IAN9; IANT; IAN-9
Summary
This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. In humans, the IAN subfamily genes are located in a cluster at 7q36.1. [provided by RefSeq, Jul 2008]
Expression
Broad expression in spleen (RPKM 22.2), lung (RPKM 17.5) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
7q36.1
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (150450630..150479393)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (151628981..151657741)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150147718..150176481)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901773 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18780 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26830 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26832 Neighboring gene long intergenic non-protein coding RNA 996 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:150173983-150175182 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:150176633-150176867 Neighboring gene eukaryotic translation initiation factor 2A pseudogene 1 Neighboring gene STE20-related kinase adaptor beta pseudogene 1

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. 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
  2. Expression of the Ian family of putative GTPases during T cell development and description of an Ian with three sets of GTP/GDP-binding motifs. Dion C, et al. Int Immunol, 2005 Sep. PMID 16103028
  3. Structural insights into the mechanism of GTPase activation in the GIMAP family. Schwefel D, et al. Structure, 2013 Apr 2. PMID 23454188
  4. Human ortholog to mouse gene imap38 encoding an ER-localizable G-protein belongs to a gene family clustered on chromosome 7q32-36. Stamm O, et al. Gene, 2002 Jan 9. PMID 11814688
  5. Comparative analysis of the human gimap gene cluster encoding a novel GTPase family. Krücken J, et al. Gene, 2004 Oct 27. PMID 15474311

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. 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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC129545, DKFZp667I133

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in regulation of T cell apoptotic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
GTPase IMAP family member 8
Names
human immune associated nucleotide 6
immune-associated nucleotide-binding protein 9

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_175571.4 → NP_783161.1  GTPase IMAP family member 8

    See identical proteins and their annotated locations for NP_783161.1

    Status: REVIEWED

    Source sequence(s)
    AL834361, BC107037, DA241971
    Consensus CDS
    CCDS34777.1
    UniProtKB/Swiss-Prot
    A0A090N8H2, Q8ND71
    Related
    ENSP00000305107.3, ENST00000307271.4
    Conserved Domains (1) summary
    cd01852
    Location:439 → 638
    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
    150450630..150479393
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249950.5 → XP_005250007.1  GTPase IMAP family member 8 isoform X1

    See identical proteins and their annotated locations for XP_005250007.1

    UniProtKB/Swiss-Prot
    A0A090N8H2, Q8ND71
    Conserved Domains (1) summary
    cd01852
    Location:439 → 638
    AIG1; AvrRpt2-Induced Gene 1 (AIG1)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    151628981..151657741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357352.1 → XP_054213327.1  GTPase IMAP family member 8 isoform X1

    UniProtKB/Swiss-Prot
    A0A090N8H2, Q8ND71
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8ND71.2 GenPept UniProtKB/Swiss-Prot:Q8ND71

Gene LinkOut

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