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ARHGAP39 Rho GTPase activating protein 39 [ Homo sapiens (human) ]

Gene ID: 80728, updated on 5-Apr-2020

Summary

Official Symbol
ARHGAP39provided by HGNC
Official Full Name
Rho GTPase activating protein 39provided by HGNC
Primary source
HGNC:HGNC:29351
See related
Ensembl:ENSG00000147799 MIM:615880
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CrGAP; Vilse
Expression
Broad expression in testis (RPKM 5.1), brain (RPKM 1.6) and 17 other tissues See more
Orthologs

Genomic context

See ARHGAP39 in Genome Data Viewer
Location:
8q24.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (144529179..144700520, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145754563..145838891, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 14 Neighboring gene leucine rich repeat containing 24 Neighboring gene chromosome 8 open reading frame 82 Neighboring gene uncharacterized LOC100996662 Neighboring gene uncharacterized LOC107986986 Neighboring gene zinc finger protein 251 Neighboring gene uncharacterized LOC105375805

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

Phenotypes

NHGRI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
NHGRI GWA Catalog
Genome-wide association study of smoking behaviours among Bangladeshi adults.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • KIAA1688

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
 
postsynapse organization IDA
Inferred from Direct Assay
more info
PubMed 
postsynapse organization IMP
Inferred from Mutant Phenotype
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
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rho GTPase-activating protein 39
Names
RhoGAP93B homolog
crossGAP homolog

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_001308207.1NP_001295136.1  rho GTPase-activating protein 39 isoform 1

    See identical proteins and their annotated locations for NP_001295136.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the shorter isoform (1). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AB051475
    Consensus CDS
    CCDS78374.1
    UniProtKB/Swiss-Prot
    Q9C0H5
    Conserved Domains (3) summary
    cd04389
    Location:8881073
    RhoGAP_KIAA1688; RhoGAP_KIAA1688: GTPase-activator protein (GAP) domain for Rho-like GTPases found in KIAA1688-like proteins; KIAA1688 is a protein of unknown function that contains a RhoGAP domain and a myosin tail homology 4 (MyTH4) domain. Small GTPases cluster into ...
    pfam00397
    Location:6995
    WW; WW domain
    pfam00784
    Location:767876
    MyTH4; MyTH4 domain
  2. NM_001308208.2NP_001295137.1  rho GTPase-activating protein 39 isoform 1

    See identical proteins and their annotated locations for NP_001295137.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AB051475, AF186192, AK296353, DA118202
    Consensus CDS
    CCDS78374.1
    UniProtKB/Swiss-Prot
    Q9C0H5
    UniProtKB/TrEMBL
    B4DK23
    Related
    ENSP00000276826.5, ENST00000276826.5
    Conserved Domains (3) summary
    cd04389
    Location:8881073
    RhoGAP_KIAA1688; RhoGAP_KIAA1688: GTPase-activator protein (GAP) domain for Rho-like GTPases found in KIAA1688-like proteins; KIAA1688 is a protein of unknown function that contains a RhoGAP domain and a myosin tail homology 4 (MyTH4) domain. Small GTPases cluster into ...
    pfam00397
    Location:6995
    WW; WW domain
    pfam00784
    Location:767876
    MyTH4; MyTH4 domain
  3. NM_025251.2NP_079527.1  rho GTPase-activating protein 39 isoform 2

    See identical proteins and their annotated locations for NP_079527.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has a shorter 5' UTR and includes an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is longer than isoform 1.
    Source sequence(s)
    AB051475, AK092501, BC013071
    Consensus CDS
    CCDS34971.1
    UniProtKB/Swiss-Prot
    Q9C0H5
    UniProtKB/TrEMBL
    B3KS00, Q6PJQ0
    Related
    ENSP00000366522.2, ENST00000377307.6
    Conserved Domains (3) summary
    cd04389
    Location:9191104
    RhoGAP_KIAA1688; RhoGAP_KIAA1688: GTPase-activator protein (GAP) domain for Rho-like GTPases found in KIAA1688-like proteins; KIAA1688 is a protein of unknown function that contains a RhoGAP domain and a myosin tail homology 4 (MyTH4) domain. Small GTPases cluster into ...
    pfam00397
    Location:6995
    WW; WW domain
    pfam00784
    Location:767907
    MyTH4; MyTH4 domain

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_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    144529179..144700520 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517308.1XP_011515610.1  rho GTPase-activating protein 39 isoform X1

    See identical proteins and their annotated locations for XP_011515610.1

    UniProtKB/Swiss-Prot
    Q9C0H5
    Conserved Domains (3) summary
    cd04389
    Location:9191104
    RhoGAP_KIAA1688; RhoGAP_KIAA1688: GTPase-activator protein (GAP) domain for Rho-like GTPases found in KIAA1688-like proteins; KIAA1688 is a protein of unknown function that contains a RhoGAP domain and a myosin tail homology 4 (MyTH4) domain. Small GTPases cluster into ...
    pfam00397
    Location:6995
    WW; WW domain
    pfam00784
    Location:767907
    MyTH4; MyTH4 domain
  2. XM_011517309.2XP_011515611.1  rho GTPase-activating protein 39 isoform X1

    See identical proteins and their annotated locations for XP_011515611.1

    UniProtKB/Swiss-Prot
    Q9C0H5
    Conserved Domains (3) summary
    cd04389
    Location:9191104
    RhoGAP_KIAA1688; RhoGAP_KIAA1688: GTPase-activator protein (GAP) domain for Rho-like GTPases found in KIAA1688-like proteins; KIAA1688 is a protein of unknown function that contains a RhoGAP domain and a myosin tail homology 4 (MyTH4) domain. Small GTPases cluster into ...
    pfam00397
    Location:6995
    WW; WW domain
    pfam00784
    Location:767907
    MyTH4; MyTH4 domain
  3. XM_017013870.2XP_016869359.1  rho GTPase-activating protein 39 isoform X1

    UniProtKB/Swiss-Prot
    Q9C0H5
    Conserved Domains (3) summary
    cd04389
    Location:9191104
    RhoGAP_KIAA1688; RhoGAP_KIAA1688: GTPase-activator protein (GAP) domain for Rho-like GTPases found in KIAA1688-like proteins; KIAA1688 is a protein of unknown function that contains a RhoGAP domain and a myosin tail homology 4 (MyTH4) domain. Small GTPases cluster into ...
    pfam00397
    Location:6995
    WW; WW domain
    pfam00784
    Location:767907
    MyTH4; MyTH4 domain
  4. XM_011517312.2XP_011515614.1  rho GTPase-activating protein 39 isoform X2

    Conserved Domains (2) summary
    cd04389
    Location:762947
    RhoGAP_KIAA1688; RhoGAP_KIAA1688: GTPase-activator protein (GAP) domain for Rho-like GTPases found in KIAA1688-like proteins; KIAA1688 is a protein of unknown function that contains a RhoGAP domain and a myosin tail homology 4 (MyTH4) domain. Small GTPases cluster into ...
    pfam00784
    Location:610750
    MyTH4; MyTH4 domain
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