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

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Summary

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; MGC26294
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]

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Genomic context

Location :: 8q13-q21

Sequence :: Chromosome: 8; NC_000008.10 (95261481..95274547, complement)

See GEM in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

GEM plays a key role during C. pneumoniae entry into human cells.
Title: A systemic network for Chlamydia pneumoniae entry into human cells.
Gem is a bona fide GTPase that exhibits striking structural and biochemical features that should impact its regulation and cellular activities
Title: Biochemical and structural characterization of the gem GTPase.
crystallographic structure and biochemical characterization indicate that Gem G-domain markedly prefers GDP over GTP
Title: Structure-function studies of the G-domain from human gem, a novel small G-protein.
We discuss the structural and functional properties of RGK proteins and highlight recent work addressing the mechanism of Gem regulation by calmodulin and 14-3-3.
Title: The RGK family: a regulatory tail of small GTP-binding proteins.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P55040	Q9P107	GMIP	HPRD	PubMed
P55040	Q9NR12	PDLIM7	HPRD	PubMed
P55040	P36406	TRIM23	HPRD	PubMed
P55040	P31946	YWHAB	HPRD	PubMed
BioGRID:108937	BioGRID:106524	A2M	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:106847	APOH	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:107117	BMP1	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:130876	CLEC4G	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:107894	CTSL1	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:119442	GMIP	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:108937	BioGRID:117419	NDUFAF3	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:110806	NDUFS8	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:114682	PDLIM7	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:114977	RNF7	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:112291	SDHB	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:106868	TRIM23	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:113287	VTN	BioGRID	PubMed	Two-hybrid
BioGRID:108937	BioGRID:119869	YBEY	BioGRID	PubMed	Two-hybrid

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
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
GTP catabolic process	IDA Inferred from Direct Assay more info	PubMed
cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
immune response	TAS Traceable Author Statement more info	PubMed
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
internal side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

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NCBI Reference Sequences (RefSeq)

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_005261.3 → NP_005252.1 GTP-binding protein GEM

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

COG1100
Location:76 – 266
Blast Score: 178

COG1100; GTPase SAR1 and related small G proteins [General function prediction only]

cd04148
Location:76 – 296
Blast Score: 1002

RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases
NM_181702.2 → NP_859053.1 GTP-binding protein GEM

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

COG1100
Location:76 – 266
Blast Score: 178

COG1100; GTPase SAR1 and related small G proteins [General function prediction only]

cd04148
Location:76 – 296
Blast Score: 1002

RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

95261481..95274547, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

90470565..90483631, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP003478.1 (128700..141776)	None
genomic	CH471060.1	EAW91709.1
		EAW91710.1
mRNA	AK314017.1	BAG36728.1
mRNA	BC022010.2	AAH22010.1
mRNA	BI759640.1	None
mRNA	DB018783.1	None
mRNA	U10550.1	AAA64911.1
mRNA	U13052.1	AAC50067.1
other-genetic	DQ890821.2	ABM81747.1
other-genetic	DQ893976.2	ABM84902.1