Format

Send to:

Choose Destination

ARHGAP42 Rho GTPase activating protein 42 [ Homo sapiens (human) ]

Gene ID: 143872, updated on 11-Sep-2019

Summary

Official Symbol
ARHGAP42provided by HGNC
Official Full Name
Rho GTPase activating protein 42provided by HGNC
Primary source
HGNC:HGNC:26545
See related
Ensembl:ENSG00000165895 MIM:615936
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
AD031; GRAF3; TMEM133
Summary
This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]
Expression
Ubiquitous expression in placenta (RPKM 4.3), thyroid (RPKM 3.5) and 24 other tissues See more
Orthologs

Genomic context

See ARHGAP42 in Genome Data Viewer
Location:
11q22.1
Exon count:
29
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (100687288..100993941)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (100558407..100861656)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 222, pseudogene Neighboring gene uncharacterized LOC100128386 Neighboring gene peptidylprolyl isomerase A pseudogene 43 Neighboring gene Sharpr-MPRA regulatory region 13184 Neighboring gene RN7SK pseudogene 115 Neighboring gene uncharacterized LOC105369457 Neighboring gene small nucleolar RNA, C/D box 13I Neighboring gene progesterone receptor Neighboring gene PGR antisense RNA 1 Neighboring gene myotubularin related protein 12 pseudogene

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

NHGRI GWAS Catalog

Description
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
NHGRI GWA Catalog
Genome wide association study of age at menarche in the Japanese population.
NHGRI GWA Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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

Homology

Clone Names

  • FLJ32810, FLJ94892, KIAA0621, MGC120878, MGC138255

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
negative regulation of systemic arterial blood pressure IEA
Inferred from Electronic Annotation
more info
 
negative regulation of vascular smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 

General protein information

Preferred Names
rho GTPase-activating protein 42
Names
rho-type GTPase-activating protein 42
transmembrane protein 133

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_001367945.1NP_001354874.1  rho GTPase-activating protein 42 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC015600, AP000872, AP001351
  2. NM_152432.4NP_689645.2  rho GTPase-activating protein 42 isoform 1

    See identical proteins and their annotated locations for NP_689645.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI672473, AI677857, AK057372, AP000872, AP001351, AV690946, BM014001, BU146672, CK824101, DA800121, EG328683, HY036401
    UniProtKB/Swiss-Prot
    A6NI28
    Related
    ENSP00000298815.7, ENST00000298815.13
    Conserved Domains (4) summary
    cd07634
    Location:19225
    BAR_GAP10-like; The Bin/Amphiphysin/Rvs (BAR) domain of Rho GTPase activating protein 10-like
    cd12066
    Location:820874
    SH3_GRAF3; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 3
    cd04374
    Location:369567
    RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
    cd01249
    Location:267376
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain

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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    100687288..100993941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542616.2XP_011540918.1  rho GTPase-activating protein 42 isoform X1

    See identical proteins and their annotated locations for XP_011540918.1

    Conserved Domains (5) summary
    cd12066
    Location:766820
    SH3_GRAF3; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 3
    cd04374
    Location:315513
    RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
    cd01249
    Location:213322
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    pfam00169
    Location:213315
    PH; PH domain
    cl12013
    Location:1171
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_011542615.2XP_011540917.1  rho GTPase-activating protein 42 isoform X1

    See identical proteins and their annotated locations for XP_011540917.1

    Conserved Domains (5) summary
    cd12066
    Location:766820
    SH3_GRAF3; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 3
    cd04374
    Location:315513
    RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
    cd01249
    Location:213322
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    pfam00169
    Location:213315
    PH; PH domain
    cl12013
    Location:1171
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_017017238.1XP_016872727.1  rho GTPase-activating protein 42 isoform X3

  4. XM_017017237.1XP_016872726.1  rho GTPase-activating protein 42 isoform X1

    Conserved Domains (5) summary
    cd12066
    Location:766820
    SH3_GRAF3; Src Homology 3 domain of GTPase Regulator Associated with Focal adhesion kinase 3
    cd04374
    Location:315513
    RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
    cd01249
    Location:213322
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    pfam00169
    Location:213315
    PH; PH domain
    cl12013
    Location:1171
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032021.2: Suppressed sequence

    Description
    NM_032021.2: This RefSeq was removed because it is primarily UTR sequence.
Support Center