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

Gene ID: 7984, updated on 24-Nov-2020

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
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

Genomic context

See ARHGEF5 in Genome Data Viewer
Location:
7q35
Exon count:
15
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (144355396..144380632)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (144052489..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 NOBOX oogenesis homeobox Neighboring gene peptidylprolyl isomerase A pseudogene 83

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686N1969

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding TAS
Traceable Author Statement
more info
PubMed 
guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell periphery IDA
Inferred from Direct Assay
more info
PubMed 
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
podosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_005435.4NP_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
    Q12774
    Related
    ENSP00000056217.5, ENST00000056217.10
    Conserved Domains (5) summary
    cd11940
    Location:15141568
    SH3_ARHGEF5_19; Src homology 3 domain of the Rho guanine nucleotide exchange factors ARHGEF5 and ARHGEF19
    cd01221
    Location:13781504
    PH_ephexin; Ephexin Pleckstrin homology (PH) domain
    pfam00169
    Location:13911497
    PH; PH domain
    pfam00621
    Location:11781356
    RhoGEF; RhoGEF domain
    pfam15441
    Location:1478
    ARHGEF5_35; Rho guanine nucleotide exchange factor 5/35

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    144355396..144380632
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012623.2XP_016868112.1  rho guanine nucleotide exchange factor 5 isoform X1

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_018654715.1 Reference GRCh38.p13 PATCHES

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

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.
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