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

Summary

Official Symbol: RHOQprovided by HGNC
Official Full Name: ras homolog family member Qprovided by HGNC
Primary source: HGNC:HGNC:17736
See related: Ensembl:ENSG00000119729 MIM:605857; AllianceGenome:HGNC:17736
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; HEL-S-42
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]
Expression: Ubiquitous expression in fat (RPKM 72.1), heart (RPKM 55.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2p21

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (46542490..46584688)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (46547523..46589676)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (46769629..46811827)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

RHOQ is induced by DLL4 and regulates angiogenesis by determining the intracellular route of the Notch intracellular domain.
Title: RHOQ is induced by DLL4 and regulates angiogenesis by determining the intracellular route of the Notch intracellular domain.
Exocytosis of Rab11- and L1-positive vesicles may play a central role in TC10-mediated neurite outgrowth
Title: GTP hydrolysis of TC10 promotes neurite outgrowth through exocytic fusion of Rab11- and L1-containing vesicles by releasing exocyst component Exo70.
Novel tumor-associated increase of RNA editing in ras homologue family member Q (RHOQ) transcripts, is reported.
Title: RNA editing in RHOQ promotes invasion potential in colorectal cancer.
The enhancement of Cb-induced gephyrin clustering by GTP-TC10 does not depend on the guanine nucleotide exchange activity of Cb but involves an interaction that resembles reported interactions of other small GTPases with their effectors
Title: Collybistin activation by GTP-TC10 enhances postsynaptic gephyrin clustering and hippocampal GABAergic neurotransmission.
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.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GBD domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IDA Inferred from Direct Assay more info	PubMed
enables profilin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in GTP metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cortical actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cortical actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in establishment or maintenance of cell polarity	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of protein localization to plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of filopodium assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of glucose import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin cytoskeleton organization	IC Inferred by Curator more info	PubMed
involved_in regulation of cell shape	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in small GTPase-mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi-associated vesicle membrane	TAS Traceable Author Statement more info
located_in actin filament	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: rho-related GTP-binding protein RhoQ

Names: RAS-like, family 7, member A; epididymis secretory protein Li 42; ras homolog gene family, member Q; ras-like protein TC10; 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_012249.4 → NP_036381.2 rho-related GTP-binding protein RhoQ

See identical proteins and their annotated locations for NP_036381.2

Status: VALIDATED

Source sequence(s)

AC018682, BC056154

Consensus CDS

CCDS33191.1

UniProtKB/Swiss-Prot

D6W5A6, P17081, Q0VGN1, Q52LS8, Q53SJ1, Q6NS39, Q6P146, Q7Z480

UniProtKB/TrEMBL

V9HWD0

Related

ENSP00000238738.4, ENST00000238738.9

Conserved Domains (1) summary

cd04135
Location:10 → 183

Tc10; Rho GTPase TC10 (Tc10)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

46542490..46584688

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532726.3 → XP_011531028.1 rho-related GTP-binding protein RhoQ isoform X1

Conserved Domains (2) summary

smart00174
Location:12 → 157

RHO; Rho (Ras homology) subfamily of Ras-like small GTPases

cl21455
Location:10 → 166

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_005264229.3 → XP_005264286.1 rho-related GTP-binding protein RhoQ isoform X2

Conserved Domains (2) summary

smart00174
Location:12 → 98

RHO; Rho (Ras homology) subfamily of Ras-like small GTPases

cl21455
Location:10 → 96

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases