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

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: mouse all
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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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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

RH17992 (e-PCR)
- UniSTS:31242

GEM_100 (e-PCR)
- UniSTS:277277

D8S1607 (e-PCR)
- UniSTS:64301

G60265 (e-PCR)
- UniSTS:137370

D8S1433E (e-PCR)
- UniSTS:151222

WI-21164 (e-PCR)
- UniSTS:22504

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

EC 3.6.5.2

NP_859053.1

EC 3.6.5.2

XP_016868804.1

EC 3.6.5.2

XP_047277642.1

EC 3.6.5.2

XP_054216253.1

EC 3.6.5.2

XP_054216254.1

EC 3.6.5.2

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)

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
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