ARHGEF5 Rho guanine nucleotide exchange factor (GEF) 5 [Homo sapiens] - Gene

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Summary

Official Symbol: ARHGEF5provided by HGNC
Official Full Name: Rho guanine nucleotide exchange factor (GEF) 5provided by HGNC
Primary source: HGNC:13209
See related: Ensembl:ENSG00000050327; HPRD:02932; MIM:600888; Vega:OTTHUMG00000158004
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: P60; TIM; GEF5; TIM1; DKFZp686N1969
Summary: Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 7q33-q35

Sequence :: Chromosome: 7; NC_000007.13 (144052489..144077725)

See ARHGEF5 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 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?

Overexpression of Arhgef5 promoted actin stress fiber remodeling through activating RhoA, and the activation of RhoA or Cdc42 was required for Src-induced podosome formation.
Title: The guanine nucleotide exchange factor Arhgef5 plays crucial roles in Src-induced podosome formation.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
RhoA guanine nucleotide exchange factor Arhgef5 regulates immature dendritic cell migration
Title: Regulation of immature dendritic cell migration by RhoA guanine nucleotide exchange factor Arhgef5.
The expression level of TIM was decreased in hepatocellular carcinoma.
Title: Disturbance of circadian gene expression in hepatocellular carcinoma.
association in humans of TIM-1 and hypersensitivity and the relationship between TIM1, hygiene, and the environment.
Title: Regulation of tolerance in the respiratory tract: TIM-1, hygiene, and the environment.

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
Q12774	P19174	PLCG1	HPRD	PubMed
BioGRID:113696	BioGRID:109072	SFN	BioGRID	PubMed	Affinity Capture-MS
BioGRID:113696	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
GTP binding	TAS Traceable Author Statement more info	PubMed
Rho guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
intracellular signal transduction	IEA Inferred from Electronic Annotation more info
regulation of Rho protein signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: rho guanine nucleotide exchange factor 5

Names: rho guanine nucleotide exchange factor 5; p60 TIM; ephexin-3; oncogene TIM; guanine nucleotide regulatory protein TIM; transforming immortalized mammary oncogene

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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_005435.3 → NP_005426.2 rho guanine nucleotide exchange factor 5

Status: REVIEWED

Source sequence(s)

AK123596, AK160365, BC010046, BF209445, BI256663, CD674013

Consensus CDS

CCDS34771.1

UniProtKB/Swiss-Prot

Q12774

Related

ENSP00000056217, OTTHUMP00000212568, ENST00000056217, OTTHUMT00000349981

Conserved Domains (3) summary

cd00160
Location:1175 – 1356
Blast Score: 380

RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

cd00174
Location:1514 – 1567
Blast Score: 149

SH3; Src homology 3 domains; SH3 domains bind to proline-rich ligands with moderate affinity and selectivity, preferentially to PxxP motifs; they play a role in the regulation of enzymes by intramolecular interactions, changing the subcellular localization of ...

cd01221
Location:1389 – 1504
Blast Score: 427

PH_ephexin; Ephexin Pleckstrin homology (PH) domain

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_000007.13 Reference GRCh37.p5 Primary Assembly

Range

144052489..144077725

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

138140991..138155879

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

143390747..143415984

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001002861.1: Suppressed sequence

Description

NM_001002861.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AACC02000041.1	EAL24413.1
genomic	AC004534.1	AAC12958.1
genomic	CH471146.2	EAW80095.1
		EAW80096.1
mRNA	AK090570.1	BAG52188.1
mRNA	AK123596.1	None
mRNA	AK160365.1	BAD18708.1
mRNA	BC010046.2	AAH10046.1
mRNA	BC011839.2	AAH11839.1
mRNA	BC014555.2	AAH14555.1
mRNA	BC136661.1	AAI36662.1
mRNA	BF209445.1	None
mRNA	BG831953.1	None
mRNA	BI256663.1	None
mRNA	BX649178.1	None
mRNA	CD674013.1	None
mRNA	CR749203.1	CAH18061.1
mRNA	U02082.1	AAA18010.1
other-genetic	DQ893512.2	ABM84438.1
other-genetic	DQ896485.2	ABM87484.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q12774.3	GenPept	UniProtKB/Swiss-Prot:Q12774
Q32Q31	GenPept	UniProtKB/TrEMBL:Q32Q31
Q68E09	GenPept	UniProtKB/TrEMBL:Q68E09