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    GEM GTP binding protein overexpressed in skeletal muscle [ Homo sapiens (human) ]

    Gene ID: 2669, updated on 5-Mar-2024

    Summary

    Official Symbol
    GEMprovided by HGNC
    Official Full Name
    GTP binding protein overexpressed in skeletal muscleprovided by HGNC
    Primary source
    HGNC:HGNC:4234
    See related
    Ensembl:ENSG00000164949 MIM:600164; AllianceGenome:HGNC:4234
    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
    KIR
    Summary
    The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in gall bladder (RPKM 114.4), urinary bladder (RPKM 36.5) and 15 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    8q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (94249253..94262319, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (95374122..95387192, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95261481..95274547, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene cadherin 17 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:95218310-95219509 Neighboring gene ribosomal protein L6 pseudogene 23 Neighboring gene uncharacterized LOC105375648 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:95246124-95246703 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:95246704-95247282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:95247283-95247861 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:95272504-95272647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19365 Neighboring gene uncharacterized LOC107986896 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:95319922-95321121 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:95353266-95353915 Neighboring gene ribosomal protein S4X pseudogene 10

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of GTP binding protein overexpressed in skeletal muscle (GEM) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC26294

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables calcium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables magnesium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitotic spindle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in spindle midzone IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    GTP-binding protein GEM
    Names
    GTP-binding mitogen-induced T-cell protein
    RAS-like protein KIR
    kinase-inducible Ras-like protein
    NP_005252.1
    NP_859053.1
    XP_016868804.1
    XP_047277642.1
    XP_054216253.1
    XP_054216254.1

    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_005261.4NP_005252.1  GTP-binding protein GEM

      See identical proteins and their annotated locations for NP_005252.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AP003478, BC022010, DB018783
      Consensus CDS
      CCDS6261.1
      UniProtKB/Swiss-Prot
      B2RA31, P55040
      Related
      ENSP00000297596.2, ENST00000297596.3
      Conserved Domains (1) summary
      cd04148
      Location:76296
      RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases
    2. NM_181702.3NP_859053.1  GTP-binding protein GEM

      See identical proteins and their annotated locations for NP_859053.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AP003478, BC022010
      Consensus CDS
      CCDS6261.1
      UniProtKB/Swiss-Prot
      B2RA31, P55040
      Related
      ENSP00000379497.2, ENST00000396194.6
      Conserved Domains (1) summary
      cd04148
      Location:76296
      RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      94249253..94262319 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421686.1XP_047277642.1  GTP-binding protein GEM isoform X1

    2. XM_017013315.2XP_016868804.1  GTP-binding protein GEM isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      95374122..95387192 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360279.1XP_054216254.1  GTP-binding protein GEM isoform X1

    2. XM_054360278.1XP_054216253.1  GTP-binding protein GEM isoform X1