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ARHGAP4 Rho GTPase activating protein 4 [ Homo sapiens (human) ]

Gene ID: 393, updated on 11-Sep-2019

Summary

Official Symbol
ARHGAP4provided by HGNC
Official Full Name
Rho GTPase activating protein 4provided by HGNC
Primary source
HGNC:HGNC:674
See related
Ensembl:ENSG00000089820 MIM:300023
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
C1; RGC1; p115; SrGAP4; RhoGAP4
Summary
This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. The protein encoded by the orthologous gene in rat is localized to the Golgi complex and can redistribute to microtubules. The rat protein stimulates the activity of some Rho GTPases in vitro. Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Broad expression in spleen (RPKM 47.8), bone marrow (RPKM 45.7) and 16 other tissues See more
Orthologs

Genomic context

See ARHGAP4 in Genome Data Viewer
Location:
Xq28
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (153907378..153926264, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153172830..153191777, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene L1 cell adhesion molecule Neighboring gene lung carcinoma-associated 10 Neighboring gene arginine vasopressin receptor 2 Neighboring gene N(alpha)-acetyltransferase 10, NatA catalytic subunit Neighboring gene renin binding protein

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?

Pathways from BioSystems

  • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of RhoA activity, organism-specific biosystem
    Regulation of RhoA activity
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: L1CAM

Potential readthrough

Included gene: NAA10

Homology

Clone Names

  • KIAA0131

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
Rac GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SH3/SH2 adaptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rho protein signal transduction TAS
Traceable Author Statement
more info
PubMed 
cytoskeleton organization TAS
Traceable Author Statement
more info
PubMed 
negative regulation of axon extension IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of fibroblast migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
Golgi apparatus 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
 
cytosol TAS
Traceable Author Statement
more info
 
growth cone IEA
Inferred from Electronic Annotation
more info
 
microtubule IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rho GTPase-activating protein 4
Names
Rho-GAP hematopoietic protein C1
rho-type GTPase-activating protein 4

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.

Genomic

  1. NG_013220.1 RefSeqGene

    Range
    4997..23883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164741.2NP_001158213.1  rho GTPase-activating protein 4 isoform 1

    See identical proteins and their annotated locations for NP_001158213.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI249937, BC052303, U52112, X78817
    Consensus CDS
    CCDS55540.1
    UniProtKB/Swiss-Prot
    P98171
    Related
    ENSP00000359045.3, ENST00000370028.7
    Conserved Domains (4) summary
    cd07656
    Location:26321
    F-BAR_srGAP; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Proteins
    cd11956
    Location:788842
    SH3_srGAP4; Src homology 3 domain of Slit-Robo GTPase Activating Protein 4
    pfam10422
    Location:391512
    LRS4; Monopolin complex subunit LRS4
    cl02570
    Location:543730
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...
  2. NM_001666.5NP_001657.3  rho GTPase-activating protein 4 isoform 2

    See identical proteins and their annotated locations for NP_001657.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (2) lacks an alternate segment, compared to isoform 1.
    Source sequence(s)
    AI249937, BC052303, D50921, U52112, X78817
    Consensus CDS
    CCDS14736.1
    UniProtKB/Swiss-Prot
    P98171
    Related
    ENSP00000203786.7, ENST00000350060.9
    Conserved Domains (4) summary
    cd07656
    Location:26281
    F-BAR_srGAP; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Proteins
    cd11956
    Location:748802
    SH3_srGAP4; Src homology 3 domain of Slit-Robo GTPase Activating Protein 4
    pfam10422
    Location:351472
    LRS4; Monopolin complex subunit LRS4
    cl02570
    Location:503690
    RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    153907378..153926264 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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