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

Summary

Official Symbol: ARHGEF5provided by HGNC
Official Full Name: Rho guanine nucleotide exchange factor 5provided by HGNC
Primary source: HGNC:HGNC:13209
See related: Ensembl:ENSG00000050327 MIM:600888; AllianceGenome:HGNC:13209
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
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]
Expression: Broad expression in thyroid (RPKM 23.4), skin (RPKM 15.6) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q35

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (144355402..144380632)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (145535577..145560799)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (144052495..144077725)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Interaction between hTIM-1 and Envelope Protein Is Important for JEV Infection.
Title: Interaction between hTIM-1 and Envelope Protein Is Important for JEV Infection.
Tim protein and DDX11 physically and functionally interact and act in concert to preserve replication fork progression in perturbed conditions.
Title: Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway.
Data indicate that Rho guanine nucleotide exchange factor 5 (ARHGEF5) is expressed in most human lung adenocarcinoma tissues and cell lines.
Title: Rho Guanine Nucleotide Exchange Factor 5 Increases Lung Cancer Cell Tumorigenesis via MMP-2 and Cyclin D1 Upregulation.
Targeting rho guanine nucleotide exchange factor ARHGEF5/TIM with auto-inhibitory peptides in human breast cancer.
Title: Targeting rho guanine nucleotide exchange factor ARHGEF5/TIM with auto-inhibitory peptides in human breast cancer.
The auto-inhibitory state of Rho guanine nucleotide exchange factor ARHGEF5/TIM can be relieved by targeting its SH3 domain with rationally designed peptide aptamers.
Title: The auto-inhibitory state of Rho guanine nucleotide exchange factor ARHGEF5/TIM can be relieved by targeting its SH3 domain with rationally designed peptide aptamers.
In conclusion, ARHGEF5/Src can be considered as a prognostic biomarker and a therapeutic target for patients with resected NSCLC.
Title: Co-expression of Rho guanine nucleotide exchange factor 5 and Src associates with poor prognosis of patients with resected non-small cell lung cancer.
A receiver operating characteristic curve constructed with HSP105 and TIM gave a sensitivity of 54.3% and 95% (38/40) specificity in discriminating esophageal squamous cell carcinoma from matched controls.
Title: Identification of tumor antigens that elicit a humoral immune response in the sera of Chinese esophageal squamous cell carcinoma patients by modified serological proteome analysis.
This study performed whole exome sequencing demonistrated that the true de novo variants represent mutations in genes (KCNH5, CLCN4, and ARHGEF15) not previously associated with epilepsies in humans.
Title: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Tim-Tipin complex might play a role in coupling DNA unwinding and DNA synthesis by directly affecting the catalytic activities of replication fork proteins.
Title: Human Tim-Tipin complex affects the biochemical properties of the replicative DNA helicase and DNA polymerases.
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.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Large-scale genotyping identifies 41 new loci associated with breast cancer risk. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103260 (e-PCR)
- UniSTS:97592

RH80813 (e-PCR)
- UniSTS:90044

TIM1 (e-PCR)
- UniSTS:50390

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	TAS Traceable Author Statement more info	PubMed
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in hematopoietic stem cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in myeloid dendritic cell chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of JUN kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of podosome assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein import	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cytoskeleton organization	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 anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell periphery	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in podosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: rho guanine nucleotide exchange factor 5

Names: Rho guanine nucleotide exchange factor (GEF) 5; ephexin-3; ephexin3; guanine nucleotide regulatory protein TIM; oncogene TIM; p60 TIM; transforming immortalized mammary oncogene

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_005435.4 → NP_005426.2 rho guanine nucleotide exchange factor 5

See identical proteins and their annotated locations for NP_005426.2

Status: REVIEWED

Source sequence(s)

AK123596, AK160365, BC010046, BF209445, BI256663, CD674013

Consensus CDS

CCDS34771.1

UniProtKB/Swiss-Prot

A6NNJ2, Q12774, Q6ZML7

UniProtKB/TrEMBL

B9EGR7

Related

ENSP00000056217.5, ENST00000056217.10

Conserved Domains (5) summary

cd11940
Location:1514 → 1568

SH3_ARHGEF5_19; Src homology 3 domain of the Rho guanine nucleotide exchange factors ARHGEF5 and ARHGEF19

cd01221
Location:1378 → 1504

PH_ephexin; Ephexin Pleckstrin homology (PH) domain

pfam00169
Location:1391 → 1497

PH; PH domain

pfam00621
Location:1178 → 1356

RhoGEF; RhoGEF domain

pfam15441
Location:1 → 478

ARHGEF5_35; Rho guanine nucleotide exchange factor 5/35

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

144355402..144380632

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017012623.3 → XP_016868112.1 rho guanine nucleotide exchange factor 5 isoform X1

Reference GRCh38.p14 PATCHES

Genomic

NW_018654715.1 Reference GRCh38.p14 PATCHES

Range

404891..430104

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

145535577..145560799

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054359021.1 → XP_054214996.1 rho guanine nucleotide exchange factor 5 isoform X2

UniProtKB/TrEMBL

B9EGR7

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.