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ARHGAP24 Rho GTPase activating protein 24 [ Homo sapiens (human) ]

Gene ID: 83478, updated on 4-Jun-2020

Summary

Official Symbol
ARHGAP24provided by HGNC
Official Full Name
Rho GTPase activating protein 24provided by HGNC
Primary source
HGNC:HGNC:25361
See related
Ensembl:ENSG00000138639 MIM:610586
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
p73; FILGAP; RCGAP72; RC-GAP72; p73RhoGAP
Summary
This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Expression
Broad expression in kidney (RPKM 13.8), thyroid (RPKM 4.3) and 20 other tissues See more
Orthologs

Genomic context

See ARHGAP24 in Genome Data Viewer
Location:
4q21.23-q21.3
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (85475150..86002666)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (86068860..86923823)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 48 Neighboring gene quinone oxidoreductase-like protein 2 pseudogene Neighboring gene uncharacterized LOC105377319 Neighboring gene microRNA 4451 Neighboring gene mitogen-activated protein kinase 10 Neighboring gene MAPK10 antisense RNA 1 Neighboring gene RN7SK pseudogene 96

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 determinants of P wave duration and PR segment.
NHGRI GWA Catalog
Genome-wide association study of PR interval.
NHGRI GWA Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.
NHGRI GWA Catalog
Several common variants modulate heart rate, PR interval and QRS duration.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33877, DKFZp564B1162

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Rac protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of ruffle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
wound healing, spreading of epidermal cells IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
adherens junction IEA
Inferred from Electronic Annotation
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
rho GTPase-activating protein 24
Names
RAC1- and CDC42-specific GTPase-activating protein of 72 kDa
filamin-A-associated RhoGAP
rhoGAP of 73 kDa
sarcoma antigen NY-SAR-88

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_051627.1 RefSeqGene

    Range
    5020..532536
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001025616.3NP_001020787.2  rho GTPase-activating protein 24 isoform 1

    See identical proteins and their annotated locations for NP_001020787.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC104059, AK091196, BC098580, DA815489, DB109452
    Consensus CDS
    CCDS34025.1
    UniProtKB/Swiss-Prot
    Q8N264
    Related
    ENSP00000378611.1, ENST00000395184.6
    Conserved Domains (4) summary
    cd04390
    Location:131329
    RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
    cd13379
    Location:18131
    PH_RhoGap24; Rho GTPase activating protein 24 Pleckstrin homology (PH) domain
    pfam00169
    Location:21124
    PH; PH domain
    pfam08614
    Location:609723
    ATG16; Autophagy protein 16 (ATG16)
  2. NM_001042669.2NP_001036134.1  rho GTPase-activating protein 24 isoform 3

    See identical proteins and their annotated locations for NP_001036134.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC104059, BC098580
    Consensus CDS
    CCDS43246.1
    UniProtKB/Swiss-Prot
    Q8N264
    Related
    ENSP00000378610.2, ENST00000395183.6
    Conserved Domains (3) summary
    cd04390
    Location:36234
    RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
    cl17171
    Location:136
    PH-like; Pleckstrin homology-like domain
    cl25732
    Location:515629
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001287805.2NP_001274734.1  rho GTPase-activating protein 24 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC104059, AK307423
    Related
    ENSP00000425589.1, ENST00000514229.5
    Conserved Domains (4) summary
    cd04390
    Location:46244
    RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
    pfam00169
    Location:1439
    PH; PH domain
    pfam08614
    Location:524638
    ATG16; Autophagy protein 16 (ATG16)
    cl17171
    Location:346
    PH-like; Pleckstrin homology-like domain
  4. NM_001346093.2NP_001333022.1  rho GTPase-activating protein 24 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC097108, AC098870, AC104059, AC139716
  5. NM_031305.3NP_112595.2  rho GTPase-activating protein 24 isoform 2

    See identical proteins and their annotated locations for NP_112595.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC098870, AC104059, BC098580
    Consensus CDS
    CCDS3611.1
    UniProtKB/Swiss-Prot
    Q8N264
    Related
    ENSP00000264343.4, ENST00000264343.4
    Conserved Domains (2) summary
    cd04390
    Location:38236
    RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
    pfam08614
    Location:516630
    ATG16; Autophagy protein 16 (ATG16)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    85475150..86002666
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454238.1XP_024310006.1  rho GTPase-activating protein 24 isoform X1

    Conserved Domains (3) summary
    cd04390
    Location:36234
    RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
    cl17171
    Location:136
    PH-like; Pleckstrin homology-like domain
    cl25732
    Location:515629
    SMC_N; RecF/RecN/SMC N terminal domain
  2. XM_024454239.1XP_024310007.1  rho GTPase-activating protein 24 isoform X1

    Conserved Domains (3) summary
    cd04390
    Location:36234
    RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
    cl17171
    Location:136
    PH-like; Pleckstrin homology-like domain
    cl25732
    Location:515629
    SMC_N; RecF/RecN/SMC N terminal domain
  3. XM_011532300.2XP_011530602.1  rho GTPase-activating protein 24 isoform X1

    See identical proteins and their annotated locations for XP_011530602.1

    UniProtKB/Swiss-Prot
    Q8N264
    Conserved Domains (3) summary
    cd04390
    Location:36234
    RhoGAP_ARHGAP22_24_25; RhoGAP_ARHGAP22_24_25: GTPase-activator protein (GAP) domain for Rho-like GTPases found in ARHGAP22, 24 and 25-like proteins; longer isoforms of these proteins contain an additional N-terminal pleckstrin homology (PH) domain. ARHGAP25 (KIA0053) has been ...
    cl17171
    Location:136
    PH-like; Pleckstrin homology-like domain
    cl25732
    Location:515629
    SMC_N; RecF/RecN/SMC N terminal domain
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