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ARHGAP20 Rho GTPase activating protein 20 [ Homo sapiens (human) ]

Gene ID: 57569, updated on 3-Mar-2019

Summary

Official Symbol
ARHGAP20provided by HGNC
Official Full Name
Rho GTPase activating protein 20provided by HGNC
Primary source
HGNC:HGNC:18357
See related
Ensembl:ENSG00000137727 MIM:609568
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
RARHOGAP
Summary
The protein encoded by this gene is an activator of RHO-type GTPases, transducing a signal from RAP1 to RHO and impacting neurite outgrowth. [provided by RefSeq, Sep 2016]
Expression
Broad expression in fat (RPKM 5.7), testis (RPKM 5.0) and 20 other tissues See more
Orthologs

Genomic context

See ARHGAP20 in Genome Data Viewer
Location:
11q22.3-q23.1
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (110577035..110713189, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (110447759..110583912, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369487 Neighboring gene ferredoxin 1 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 60 Neighboring gene uncharacterized LOC105369488

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
NHGRI GWA Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
NHGRI GWA Catalog
Heritability and genome-wide association analysis of renal sinus fat accumulation in the Framingham Heart Study.
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

  • KIAA1391

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
rho GTPase-activating protein 20
Names
RA and RhoGAP domain containing protein
rho GTPase activating protein 20 variant 2
rho-type GTPase-activating protein 20

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_051657.1 RefSeqGene

    Range
    5462..141155
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001258415.1NP_001245344.1  rho GTPase-activating protein 20 isoform 2

    See identical proteins and their annotated locations for NP_001245344.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AP001883, AY496266
    Consensus CDS
    CCDS58177.1
    UniProtKB/Swiss-Prot
    Q9P2F6
    Related
    ENSP00000432076.1, ENST00000524756.5
    Conserved Domains (3) summary
    cd04402
    Location:339532
    RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
    cd13319
    Location:61157
    PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
    pfam00788
    Location:175251
    RA; Ras association (RalGDS/AF-6) domain
  2. NM_001258416.1NP_001245345.1  rho GTPase-activating protein 20 isoform 3

    See identical proteins and their annotated locations for NP_001245345.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AP001883, AY496267
    Consensus CDS
    CCDS58176.1
    UniProtKB/Swiss-Prot
    Q9P2F6
    Related
    ENSP00000436522.1, ENST00000533353.5
    Conserved Domains (3) summary
    cd04402
    Location:336529
    RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
    cd13319
    Location:58154
    PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
    pfam00788
    Location:172248
    RA; Ras association (RalGDS/AF-6) domain
  3. NM_001258417.1NP_001245346.1  rho GTPase-activating protein 20 isoform 4

    See identical proteins and their annotated locations for NP_001245346.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 4 and 5 encode the same isoform (4), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AP001883, AY496264
    Consensus CDS
    CCDS58175.1
    UniProtKB/Swiss-Prot
    Q9P2F6
    Related
    ENSP00000436319.1, ENST00000528829.5
    Conserved Domains (3) summary
    cd04402
    Location:326519
    RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
    cd13319
    Location:48144
    PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
    pfam00788
    Location:162238
    RA; Ras association (RalGDS/AF-6) domain
  4. NM_001258418.1NP_001245347.1  rho GTPase-activating protein 20 isoform 4

    See identical proteins and their annotated locations for NP_001245347.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 4 and 5 encode the same isoform (4), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AP001883, AY496265
    Consensus CDS
    CCDS58175.1
    UniProtKB/Swiss-Prot
    Q9P2F6
    Related
    ENSP00000431399.1, ENST00000527598.1
    Conserved Domains (3) summary
    cd04402
    Location:326519
    RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
    cd13319
    Location:48144
    PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
    pfam00788
    Location:162238
    RA; Ras association (RalGDS/AF-6) domain
  5. NM_020809.3NP_065860.2  rho GTPase-activating protein 20 isoform 1

    See identical proteins and their annotated locations for NP_065860.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AP001883, AY496263
    Consensus CDS
    CCDS31673.1
    UniProtKB/Swiss-Prot
    Q9P2F6
    Related
    ENSP00000260283.4, ENST00000260283.8
    Conserved Domains (3) summary
    cd04402
    Location:362555
    RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
    cd13319
    Location:84180
    PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
    pfam00788
    Location:198274
    RA; Ras association (RalGDS/AF-6) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    110577035..110713189 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718893.3XP_006718956.1  rho GTPase-activating protein 20 isoform X1

    See identical proteins and their annotated locations for XP_006718956.1

    UniProtKB/Swiss-Prot
    Q9P2F6
    Conserved Domains (3) summary
    cd04402
    Location:362555
    RhoGAP_ARHGAP20; RhoGAP_ARHGAP20: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of ArhGAP20-like proteins. ArhGAP20, also known as KIAA1391 and RA-RhoGAP, contains a RhoGAP, a RA, and a PH domain, and ANXL repeats. ArhGAP20 is activated by ...
    cd13319
    Location:84180
    PH_RARhoGAP; RA and RhoGAP domain-containing protein Pleckstrin homology PH domain
    pfam00788
    Location:198274
    RA; Ras association (RalGDS/AF-6) domain
  2. XM_005271628.3XP_005271685.1  rho GTPase-activating protein 20 isoform X2

    Related
    ENSP00000437905.1, ENST00000529591.5
    Conserved Domains (1) summary
    cl02570
    Location:198
    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 ...
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