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

Gene ID: 7984, updated on 3-Apr-2024

Summary

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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
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Genomic context

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See ARHGEF5 in Genome Data Viewer
Location:
7q35
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (144355402..144380632)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (145535577..145560799)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (144052495..144077725)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ARHGEF35 antisense RNA 1 Neighboring gene OR2A1 antisense RNA 1 Neighboring gene olfactory receptor family 2 subfamily A member 9 pseudogene Neighboring gene olfactory receptor family 2 subfamily A member 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:144039739-144040663 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:144050275-144050774 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:144062707-144063275 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:144075440-144076639 Neighboring gene MPRA-validated peak6811 silencer Neighboring gene uncharacterized LOC124901817 Neighboring gene NOBOX oogenesis homeobox

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Rho Guanine Nucleotide Exchange Factor 5 Increases Lung Cancer Cell Tumorigenesis via MMP-2 and Cyclin D1 Upregulation. He P, et al. Mol Cancer Ther, 2015 Jul. PMID 25777963
  2. Targeting rho guanine nucleotide exchange factor ARHGEF5/TIM with auto-inhibitory peptides in human breast cancer. Huang O, et al. Amino Acids, 2015 Jun. PMID 25743165
  3. 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. He P, et al. Biochimie, 2015 Apr. PMID 25645980
  4. Regulation of tolerance in the respiratory tract: TIM-1, hygiene, and the environment. Umetsu DT, et al. Ann N Y Acad Sci, 2004 Dec. PMID 15681748
  5. Assignment of the human TIM proto-oncogene to 7q33-->q35. Takai S, et al. Cancer Genet Cytogenet, 1995 Aug. PMID 7656213

See all (55) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686N1969

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 activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
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 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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NEW Try the new Transcript table

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)

  1. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    144355402..144380632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654715.1 Reference GRCh38.p14 PATCHES

    Range
    404891..430104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    145535577..145560799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001002861.1: Suppressed sequence

    Description
    NM_001002861.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q12774.3 GenPept UniProtKB/Swiss-Prot:Q12774

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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