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

Gene ID: 80728, updated on 6-Nov-2022

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; AllianceGenome:HGNC:29351
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
Summary
Predicted to enable GTPase activator activity. Involved in postsynapse organization. Is active in glutamatergic synapse. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 5.1), brain (RPKM 1.6) and 17 other tissues See more
Orthologs
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Genomic context

See ARHGAP39 in Genome Data Viewer
Location:
8q24.3
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (144529179..144700362, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (145699369..145856901, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (145754563..145911231, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 11949 Neighboring gene leucine rich repeat containing 14 Neighboring gene leucine rich repeat containing 24 Neighboring gene chromosome 8 open reading frame 82 Neighboring gene Sharpr-MPRA regulatory region 12231 Neighboring gene uncharacterized LOC100996662 Neighboring gene uncharacterized LOC107986986 Neighboring gene zinc finger protein 251

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

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog
Genome-wide association study of smoking behaviours among Bangladeshi adults.
EBI GWAS 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
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTPase activator activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in postsynapse organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in postsynapse organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
involved_in signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in 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)

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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
    B4E1I1, 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
    B4E1I1, 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_025251.3NP_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) differs in the 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)
    AC084125, AF186192, KF573657
    Consensus CDS
    CCDS34971.1
    UniProtKB/Swiss-Prot
    Q9C0H5
    UniProtKB/TrEMBL
    B3KS00, Q6PJQ0
    Related
    ENSP00000366522.2, ENST00000377307.7
    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 Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    144529179..144700362 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517308.2XP_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_017013870.3XP_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
  3. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    145699369..145856901 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)