RHOQ ras homolog family member Q [Homo sapiens (human)] - Gene

Summary

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Official Symbol: RHOQprovided by HGNC
Official Full Name: ras homolog family member Qprovided by HGNC
Primary source: HGNC:17736
See related: HPRD:05791; MIM:605857
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARHQ; TC10; TC10A; RASL7A
Summary: This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. The encoded protein is an important signalling protein for sarcomere assembly and has been shown to play a significant role in the exocytosis of the solute carrier family 2, facilitated glucose transporter member 4 and other proteins, possibly acting as the signal that turns on the membrane fusion machinery. Three related pseudogene have been identified on chromosomes 2 and 14. [provided by RefSeq, Aug 2011]

Genomic context

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Location :: 2p21

Sequence :: Chromosome: 2; NC_000002.11 (46769867..46811827)

See RHOQ in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

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Bibliography

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

Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Identification of type 2 diabetes-associated combination of SNPs using support vector machine.
These findings reveal a novel signaling pathway in human skeletal muscle that involves obscurin and the Rho GTPase TC10 and implicate this pathway in new sarcomere formation.
Title: TC10 controls human myofibril organization and is activated by the sarcomeric RhoGEF obscurin.
Observational study of gene-disease association. (HuGE Navigator)
Title: Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.
Overexpression of the Rho family member TC10alpha, disrupts adipocyte cortical actin structure and inhibits insulin-stimulated GLUT4 translocation
Title: Lipid Raft targeting of the TC10 amino terminal domain is responsible for disruption of adipocyte cortical actin.
The crystal structure of TC10 proved that the basic region of WASp and two unique glutamates in Cdc42 generate favorable electrostatic steering forces that control the accelerated WASp-Cdc42 association reaction.
Title: An electrostatic steering mechanism of Cdc42 recognition by Wiskott-Aldrich syndrome proteins.
The GTP-bound form of TC10 directs the trafficking of CFTR from the juxtanuclear region to the secretory pathway toward the plasma membrane
Title: Regulation of cystic fibrosis transmembrane regulator trafficking and protein expression by a Rho family small GTPase TC10.
The exocyst complex is required for targeting of Glut4 to the plasma membrane by insulin
Title: The exocyst complex is required for targeting of Glut4 to the plasma membrane by insulin.
We propose that an EGF-stimulated GAP accelerates GTP hydrolysis of TC10, thereby promoting vesicle fusion.
Title: GTP hydrolysis by the Rho family GTPase TC10 promotes exocytic vesicle fusion.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_036381.1			BIND	PubMed	GTP binds to the GTPase TC10.
NP_036381.1			BIND	PubMed	GDP binds to the GTPase TC10.
NP_036381.2	NP_006770.1	CDC42EP2	BIND	PubMed	Activated TC10 interacts with Borg1.
NP_036381.2	NP_006440.2	CDC42EP3	BIND	PubMed	Activated TC10 interacts with Borg2.
NP_036381.2	NP_000368.1	WAS	BIND	PubMed	TC10 interacts with WASP.
P17081	Q00587	CDC42EP1	HPRD	PubMed
P17081	O14613	CDC42EP2	HPRD	PubMed
P17081	Q9UKI2	CDC42EP3	HPRD	PubMed
P17081	Q9H3Q1	CDC42EP4	HPRD	PubMed
P17081	P53618	COPB1	HPRD	PubMed
P17081	Q9Y678	COPG1	HPRD	PubMed
P17081	Q8NF50	DOCK8	HPRD	PubMed
P17081	Q9UPT5	EXOC7	HPRD	PubMed
P17081	Q9HD26	GOPC	HPRD	PubMed
P17081	Q9NPB6	PARD6A	HPRD	PubMed
P17081	Q9BYG5	PARD6B	HPRD	PubMed
P17081	P07737	PFN1	HPRD	PubMed
P17081	P41743	PRKCI	HPRD	PubMed
P17081	Q13905	RAPGEF1	HPRD	PubMed
P17081	Q15642	TRIP10	HPRD	PubMed
BioGRID:117001	BioGRID:120719	CDC42BPG	BioGRID	PubMed	Reconstituted Complex
BioGRID:117001	BioGRID:115702	CDC42EP2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:117001	BioGRID:115849	CDC42EP3	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:117001	BioGRID:108309	ELAVL1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:117001	BioGRID:116867	EXOC7	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:117001	BioGRID:121384	GOPC	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:117001	BioGRID:119157	PARD6A	BioGRID	PubMed	Two-hybrid
BioGRID:117001	BioGRID:124145	PARD6B	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:117001	BioGRID:111237	PFN1	BioGRID	PubMed	Reconstituted Complex
BioGRID:117001	BioGRID:202021	Pak3	BioGRID	PubMed	Reconstituted Complex
BioGRID:117001	BioGRID:114733	TRIP10	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:117001	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:117001	BioGRID:114466	WASL	BioGRID	PubMed	Reconstituted Complex; Two-hybrid

Pathways from BioSystems

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Insulin Pathway, organism-specific biosystem (from Pathway Interaction Database)
Insulin Pathway, organism-specific biosystem
Insulin Pathway
Insulin Signaling, organism-specific biosystem (from WikiPathways)
Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
Insulin signaling pathway, organism-specific biosystem (from KEGG)
Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
Insulin signaling pathway, conserved biosystem (from KEGG)
Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
Insulin-mediated glucose transport, organism-specific biosystem (from Pathway Interaction Database)
Insulin-mediated glucose transport, organism-specific biosystem
Insulin-mediated glucose transport
Membrane Trafficking, organism-specific biosystem (from REACTOME)
Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
Rho GTPase cycle, organism-specific biosystem (from REACTOME)
Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
Translocation of GLUT4 to the Plasma Membrane, organism-specific biosystem (from REACTOME)
Translocation of GLUT4 to the Plasma Membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose from the...

General gene information

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Markers

D14S659E (e-PCR)
- UniSTS:151557

RH78810 (e-PCR)
- UniSTS:60430

SHGC-32727 (e-PCR)
- UniSTS:66603

D2S2603 (e-PCR)
- UniSTS:77126

RH104312 (e-PCR)
- UniSTS:98637

UniSTS:483156 (e-PCR)
- UniSTS:483156

G27364 (e-PCR)
- UniSTS:50516

SHGC-154607 (e-PCR)
- UniSTS:183385

WI-7257 (e-PCR)
- UniSTS:21607

RH120612 (e-PCR)
- UniSTS:132554

G62001 (e-PCR)
- UniSTS:139220

Homology

Homologs of the RHOQ gene: The RHOQ gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
GBD domain binding	IPI Inferred from Physical Interaction more info	PubMed
GTP binding	IEA Inferred from Electronic Annotation more info
GTPase activity	IDA Inferred from Direct Assay more info	PubMed
profilin binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
GTP catabolic process	IDA Inferred from Direct Assay more info	PubMed
cellular response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
cortical actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of establishment of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of filopodium assembly	IDA Inferred from Direct Assay more info	PubMed
positive regulation of glucose import	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
regulation of actin cytoskeleton organization	IC Inferred by Curator more info	PubMed
regulation of cell shape	IEA Inferred from Electronic Annotation more info
regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
actin filament	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
membrane raft	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: rho-related GTP-binding protein RhoQ

Names: rho-related GTP-binding protein RhoQ; ras-like protein TC10; RAS-like, family 7, member A; ras homolog gene family, member Q; ras-like protein family member 7A

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_012249.3 → NP_036381.2 rho-related GTP-binding protein RhoQ precursor

Status: VALIDATED

Source sequence(s)

AC018682, BC056154

Consensus CDS

CCDS33191.1

UniProtKB/Swiss-Prot

P17081

Conserved Domains (2) summary

cd04135
Location:10 – 183
Blast Score: 914

Tc10; Rho GTPase TC10 (Tc10)

PTZ00369
Location:11 – 204
Blast Score: 201

PTZ00369; Ras-like protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p10 Primary Assembly

Range

46769867..46811827

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

46508355..46549243

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018913.1 Alternate CHM1_1.0

Range

46636588..46678605

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01075139.1 (709..41597)	None
genomic	AC018682.4	AAY14834.1
genomic	AMYH01010316.1 (17092..20718)	None
genomic	AMYH01010317.1	None
genomic	CH471053.2	EAX00246.1
		EAX00247.1
		EAX00248.1
		EAX00249.1
		EAX00250.1
		EAX00251.1
mRNA	AF498976.1	AAM21123.1
mRNA	AK095329.1	None
mRNA	BC013135.1	None
mRNA	BC033251.1	None
mRNA	BC056154.1	AAH56154.3
mRNA	BC065291.1	AAH65291.2
mRNA	BC070485.1	AAH70485.2
mRNA	BC093805.1	AAH93805.2
mRNA	BC101806.1	AAI01807.1
mRNA	BU928962.1	None
mRNA	M31470.1	AAA36547.1