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

Gene ID: 2669, updated on 6-Jul-2014
Official Symbol
GEMprovided by HGNC
Official Full Name
GTP binding protein overexpressed in skeletal muscleprovided by HGNC
Primary source
HGNC:4234
See related
Ensembl:ENSG00000164949; HPRD:11553; MIM:600164; Vega:OTTHUMG00000164392
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]
Location:
8q13-q21
Exon count :
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (94249253..94262319, complement)
105 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 ribosomal protein L34 pseudogene 18 Neighboring gene cadherin 17, LI cadherin (liver-intestine) Neighboring gene ribosomal protein L6 pseudogene Neighboring gene ribosomal protein S4X pseudogene 10 Neighboring gene RAD54 homolog B (S. cerevisiae) Neighboring gene fibrinogen silencer binding protein

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
GTP catabolic process IEA
Inferred from Electronic Annotation
more info
 
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
chromosome organization IMP
Inferred from Mutant Phenotype
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
metaphase plate congression IMP
Inferred from Mutant Phenotype
more info
 
mitotic nuclear division IMP
Inferred from Mutant Phenotype
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasmic side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
midbody IDA
Inferred from Direct Assay
more info
 
mitotic spindle IDA
Inferred from Direct Assay
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
spindle midzone IDA
Inferred from Direct Assay
more info
 
Preferred Names
GTP-binding protein GEM
Names
GTP-binding protein GEM
RAS-like protein KIR
kinase-inducible Ras-like protein
GTP-binding mitogen-induced T-cell protein
GTP-binding protein overexpressed in skeletal muscle

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_005261.3NP_005252.1  GTP-binding protein GEM

    See proteins identical to 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
    P55040
    Related
    ENSP00000297596, OTTHUMP00000226601, ENST00000297596, OTTHUMT00000378566
    Conserved Domains (2) summary
    cd04148
    Location:76296
    Blast Score: 1036
    RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases
    COG1100
    Location:76266
    Blast Score: 193
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]
  2. NM_181702.2NP_859053.1  GTP-binding protein GEM

    See proteins identical to 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
    P55040
    Related
    ENSP00000379497, OTTHUMP00000226600, ENST00000396194, OTTHUMT00000378565
    Conserved Domains (2) summary
    cd04148
    Location:76296
    Blast Score: 1036
    RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases
    COG1100
    Location:76266
    Blast Score: 193
    COG1100; GTPase SAR1 and related small G proteins [General function prediction only]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

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

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    90470565..90483631
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    95301787..95314853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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