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ARHGAP29 Rho GTPase activating protein 29 [ Homo sapiens (human) ]

Gene ID: 9411, updated on 15-Apr-2019

Summary

Official Symbol
ARHGAP29provided by HGNC
Official Full Name
Rho GTPase activating protein 29provided by HGNC
Primary source
HGNC:HGNC:30207
See related
Ensembl:ENSG00000137962 MIM:610496
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
PARG1
Summary
Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]
Expression
Broad expression in lung (RPKM 15.0), thyroid (RPKM 13.9) and 23 other tissues See more
Orthologs

Genomic context

See ARHGAP29 in Genome Data Viewer
Location:
1p22.1
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (94168907..94275068, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (94634463..94713251, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATP binding cassette subfamily A member 4 Neighboring gene uncharacterized LOC105378858 Neighboring gene RNA, 7SL, cytoplasmic 440, pseudogene Neighboring gene uncharacterized LOC107985092 Neighboring gene uncharacterized LOC105378859 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 29

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
Genetic predictors of fibrin D-dimer levels in healthy adults.
NHGRI GWA Catalog
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog

Pathways from BioSystems

  • Hypothetical Craniofacial Development Pathway, organism-specific biosystem (from WikiPathways)
    Hypothetical Craniofacial Development Pathway, organism-specific biosystemHypothetical pathway linking cranio-facial development pathway (IRF6, TP63, TFAP2A, and TGFB3) to Rho signaling pathway through ARHGAP29 regulation. Authors of literature suspect that a decrease of A...
  • 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
PDZ domain binding IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Rho protein signal transduction TAS
Traceable Author Statement
more info
PubMed 
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
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
rho GTPase-activating protein 29
Names
PTPL1-associated RhoGAP 1 (PARG1)
PTPL1-associated RhoGAP protein 1
rho-type GTPase-activating protein 29

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_050965.1 RefSeqGene

    Range
    32309..111162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001328664.1NP_001315593.1  rho GTPase-activating protein 29 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AC097059, AL162735
    Consensus CDS
    CCDS748.1
    UniProtKB/Swiss-Prot
    Q52LW3
    Conserved Domains (3) summary
    smart00109
    Location:612657
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cd04409
    Location:669881
    RhoGAP_PARG1; RhoGAP_PARG1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of PARG1 (PTPL1-associated RhoGAP1). PARG1 was originally cloned as an interaction partner of PTPL1, an intracellular protein-tyrosine phosphatase. PARG1 interacts ...
    cl12013
    Location:220436
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. NM_001328665.1NP_001315594.1  rho GTPase-activating protein 29 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a. Variants 3 and 5 both encode the same isoform (b).
    Source sequence(s)
    AC097059, AL162735
    Conserved Domains (3) summary
    cd04409
    Location:605817
    RhoGAP_PARG1; RhoGAP_PARG1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of PARG1 (PTPL1-associated RhoGAP1). PARG1 was originally cloned as an interaction partner of PTPL1, an intracellular protein-tyrosine phosphatase. PARG1 interacts ...
    pfam00130
    Location:549594
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    cl12013
    Location:156372
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. NM_001328666.1NP_001315595.1  rho GTPase-activating protein 29 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AL162735
  4. NM_001328667.1NP_001315596.1  rho GTPase-activating protein 29 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate 5' exon compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a. Variants 3 and 5 both encode the same isoform (b).
    Source sequence(s)
    AL162735
    Conserved Domains (3) summary
    cd04409
    Location:605817
    RhoGAP_PARG1; RhoGAP_PARG1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of PARG1 (PTPL1-associated RhoGAP1). PARG1 was originally cloned as an interaction partner of PTPL1, an intracellular protein-tyrosine phosphatase. PARG1 interacts ...
    pfam00130
    Location:549594
    C1_1; Phorbol esters/diacylglycerol binding domain (C1 domain)
    cl12013
    Location:156372
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  5. NM_004815.4NP_004806.3  rho GTPase-activating protein 29 isoform a

    See identical proteins and their annotated locations for NP_004806.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AL162735, BC093767, BF115799
    Consensus CDS
    CCDS748.1
    UniProtKB/Swiss-Prot
    Q52LW3
    Related
    ENSP00000260526.6, ENST00000260526.11
    Conserved Domains (3) summary
    smart00109
    Location:612657
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cd04409
    Location:669881
    RhoGAP_PARG1; RhoGAP_PARG1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of PARG1 (PTPL1-associated RhoGAP1). PARG1 was originally cloned as an interaction partner of PTPL1, an intracellular protein-tyrosine phosphatase. PARG1 interacts ...
    cl12013
    Location:220436
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

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_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    94168907..94275068 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542439.2XP_011540741.1  rho GTPase-activating protein 29 isoform X1

    See identical proteins and their annotated locations for XP_011540741.1

    UniProtKB/Swiss-Prot
    Q52LW3
    Conserved Domains (3) summary
    smart00109
    Location:612657
    C1; Protein kinase C conserved region 1 (C1) domains (Cysteine-rich domains)
    cd04409
    Location:669881
    RhoGAP_PARG1; RhoGAP_PARG1: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of PARG1 (PTPL1-associated RhoGAP1). PARG1 was originally cloned as an interaction partner of PTPL1, an intracellular protein-tyrosine phosphatase. PARG1 interacts ...
    cl12013
    Location:220436
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
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