RHOD ras homolog family member D [Homo sapiens (human)] - Gene

Summary

Official Symbol: RHODprovided by HGNC
Official Full Name: ras homolog family member Dprovided by HGNC
Primary source: HGNC:HGNC:670
See related: Ensembl:ENSG00000173156 MIM:605781; AllianceGenome:HGNC:670
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: Rho; ARHD; RHOM; RHOHP1
Summary: Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Expression: Ubiquitous expression in esophagus (RPKM 14.1), skin (RPKM 7.1) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (67056847..67072017)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (67051322..67066491)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (66824318..66839488)

Chromosome 11 - NC_000011.10 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 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?

Rho GTPase gene expression and breast cancer risk: a Mendelian randomization analysis.
Title: Rho GTPase gene expression and breast cancer risk: a Mendelian randomization analysis.
The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis.
Title: The actin nucleation factors JMY and WHAMM enable a rapid Arp2/3 complex-mediated intrinsic pathway of apoptosis.
The GTPase deficient atypical Rho GTPases, which have a stalled GTPase activity, RhoD has an elevated intrinsic GDP/GTP exchange activity, rendering the protein constitutively active.
Title: RhoD localization and function is dependent on its GTP/GDP-bound state and unique N-terminal motif.
RhoD recruits Pak6 to the plasma membrane to antagonize RhoC signaling during cell contraction and blebbing
Title: RhoD Inhibits RhoC-ROCK-Dependent Cell Contraction via PAK6.
RhoD silencing leads to increased actin filament-containing structures and disruption of cell migration and proliferation.
Title: The atypical Rho GTPase RhoD is a regulator of actin cytoskeleton dynamics and directed cell migration.
A novel signaling pathway involving RhoD and its binding partner WHAMM, regulate Golgi dynamics.
Title: RhoD is a Golgi component with a role in anterograde protein transport from the ER to the plasma membrane.
Activated p42/44-MAP kinase, Rho GTPase.
Title: Paxillin mediates stretch-induced Rho signaling and endothelial permeability via assembly of paxillin-p42/44MAPK-GEF-H1 complex.
Fetal RHD detection in early pregnancy using a single-exon assay in a routine clinical setting is feasible and accurate after its implementation in an unselected pregnant population.
Title: Noninvasive single-exon fetal RHD determination in a routine screening program in early pregnancy.
It regulates relaxation of vascular smooth muscle.
Title: [Role of the Rho-kinase pathway in pulmonary arterial hypertension].
Data from differentiating cultured erythroid precursor cells suggest that RhAG (Rh-associated glycoprotein) knockdown abolishes Rh blood group expression (RhoD; ICAM4 [intercellular adhesion molecule 4]; CD47 Rh-related antigen) in erythroid cells.
Title: In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

EBI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Replication interactions

Interaction	Pubs
Knockdown of ras homolog family member D (RHOD) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The function and activity of CREB is required for both Tat-induced Rho signaling and nuclear targeting of ZO-1	PubMed
matrix	gag	HIV-1 MA-induced upregulation of collagen-I and alpha-SMA expression is dependent on CXCR2 via the Rho/ROCK-1 pathway	PubMed
	gag	HIV-1 p17-mediated activation of the Rho/ROCK-signaling pathway is required for p17-mediated monocyte adhesion and migration	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

STS-W95064 (e-PCR)
- UniSTS:53030

STS-N39550 (e-PCR)
- UniSTS:80790

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Rho protein signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in actin filament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in focal adhesion assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytosol	TAS Traceable Author Statement more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in endosome membrane	TAS Traceable Author Statement more info
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: rho-related GTP-binding protein RhoD

Names: Rho-related protein HP1; ras homolog D; ras homolog gene family, member A; ras homolog gene family, member D

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_001300886.2 → NP_001287815.1 rho-related GTP-binding protein RhoD isoform 2

See identical proteins and their annotated locations for NP_001287815.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

BM761353, CB853597, CN305061

Consensus CDS

CCDS73330.1

UniProtKB/TrEMBL

E9PIG5

Related

ENSP00000432003.1, ENST00000532559.1

Conserved Domains (1) summary

cl38936
Location:16 → 144

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_014578.4 → NP_055393.1 rho-related GTP-binding protein RhoD isoform 1

See identical proteins and their annotated locations for NP_055393.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

BC001338, BM761362, CA433897

Consensus CDS

CCDS8155.1

UniProtKB/Swiss-Prot

O00212

Related

ENSP00000308576.2, ENST00000308831.7

Conserved Domains (1) summary

cd04132
Location:16 → 210

Rho4_like; Ras homology family 4 (Rho4) of small guanosine triphosphatases (GTPases)-like