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

    Gene ID: 2669, updated on 14-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See GEM in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (94249253..94262319, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (95374122..95387192, complement)
    RS_2024_09 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

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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. The RGK family: a regulatory tail of small GTP-binding proteins. Kelly K. Trends Cell Biol, 2005 Dec. PMID 16242932
    2. Gem-induced cytoskeleton remodeling increases cellular migration of HTLV-1-infected cells, formation of infected-to-target T-cell conjugates and viral transmission. Chevalier SA, et al. PLoS Pathog, 2014 Feb. PMID 24586148, Free PMC Article
    3. Identification of Gem as a new candidate prognostic marker in hepatocellular carcinoma. Huang X, et al. Pathol Res Pract, 2014 Nov. PMID 25155751
    4. Direct inhibition of P/Q-type voltage-gated Ca2+ channels by Gem does not require a direct Gem/Cavbeta interaction. Fan M, et al. Proc Natl Acad Sci U S A, 2010 Aug 17. PMID 20679232, Free PMC Article
    5. Transcriptional activation of a ras-like gene (kir) by oncogenic tyrosine kinases. Cohen L, et al. Proc Natl Acad Sci U S A, 1994 Dec 20. PMID 7809057, Free PMC Article

    See all (40) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Decreased expression of GEM in osteoarthritis cartilage regulates chondrogenic differentiation via Wnt/beta-catenin signaling.
      Title: Decreased expression of GEM in osteoarthritis cartilage regulates chondrogenic differentiation via Wnt/β-catenin signaling.
    2. Direct inhibition of CaV2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction.
      Title: Direct inhibition of Ca(V)2.3 by Gem is dynamin dependent and does not require a direct alfa/beta interaction.
    3. Ras-like Gem GTPase induced by Npas4 promotes activity-dependent neuronal tolerance for ischemic stroke.
      Title: Ras-like Gem GTPase induced by Npas4 promotes activity-dependent neuronal tolerance for ischemic stroke.
    4. GEM and PPP1R13L were predicted as novel genes which may act as potential target or biomarkers of obesity as they occur with other 21 target genes with known obesity relationship.
      Title: Identification of key regulatory genes connected to NF-κB family of proteins in visceral adipose tissues using gene expression and weighted protein interaction network.
    5. Down regulation of Gem expression was involved in the pathogenesis of hepatocellular carcinoma (HCC), and it might be a favorable independent prognostic parameter for HCC.
      Title: Identification of Gem as a new candidate prognostic marker in hepatocellular carcinoma.
    6. These findings demonstrate a new role of Gem/Gmip/RhoA signaling in cortical actin regulation during early mitotic stages.
      Title: Gem GTPase acts upstream Gmip/RhoA to regulate cortical actin remodeling and spindle positioning during early mitosis.
    7. Gem is involved both in T-cell spontaneous cell migration as well as chemotaxis and plays an important role in cell-to-cell HTLV-1 viral transmission.
      Title: Gem-induced cytoskeleton remodeling increases cellular migration of HTLV-1-infected cells, formation of infected-to-target T-cell conjugates and viral transmission.
    8. Data show a mechanism by which GTPase Gem contributes to the mitotic progression by maintaining correct spindle length through the kinesin Kif9.
      Title: The GTPase Gem and its partner Kif9 are required for chromosome alignment, spindle length control, and mitotic progression.
    9. Gem contains two candidate inhibitory sites, each capable of producing full inhibition of P/Q-type Ca(2+) channels.
      Title: Molecular determinants of Gem protein inhibition of P/Q-type Ca2+ channels.
    10. GEM plays a key role during C. pneumoniae entry into human cells.
      Title: A systemic network for Chlamydia pneumoniae entry into human cells.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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)

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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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_005261.4 → NP_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:76 → 296
      RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases

    2. NM_181702.3 → NP_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:76 → 296
      RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases

    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_000008.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

    2. XM_017013315.2 → XP_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_054360279.1 → XP_054216254.1  GTP-binding protein GEM isoform X1

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

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55040.1 GenPept UniProtKB/Swiss-Prot:P55040

    Gene LinkOut

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