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ARHGAP17 Rho GTPase activating protein 17 [ Homo sapiens (human) ]

Gene ID: 55114, updated on 12-Aug-2018

Summary

Official Symbol
ARHGAP17provided by HGNC
Official Full Name
Rho GTPase activating protein 17provided by HGNC
Primary source
HGNC:HGNC:18239
See related
Ensembl:ENSG00000140750 MIM:608293; Vega:OTTHUMG00000177372
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
PP367; RICH1; WBP15; MST066; MST110; NADRIN; PP4534; RICH-1; MSTP038; MSTP066; MSTP110
Summary
RICH1 is a GTPase-activating protein (GAP). GAPs stimulate the intrinsic GTP hydrolysis of small G proteins, such as RHOA (MIM 165390), RAC1 (MIM 602048), and CDC42 (MIM 116952).[supplied by OMIM, Apr 2004]
Expression
Ubiquitous expression in spleen (RPKM 24.3), lymph node (RPKM 19.6) and 25 other tissues See more
Orthologs

Genomic context

See ARHGAP17 in Genome Data Viewer
Location:
16p12.1
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (24919384..25015601, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (24930710..25026695, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984825 Neighboring gene solute carrier family 5 member 11 Neighboring gene uncharacterized LOC107984826 Neighboring gene thyroid hormone receptor interactor 11 pseudogene Neighboring gene leucine carboxyl methyltransferase 1 pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Regulation of CDC42 activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of CDC42 activity, organism-specific biosystem
    Regulation of CDC42 activity
  • Regulation of RAC1 activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of RAC1 activity, organism-specific biosystem
    Regulation of RAC1 activity
  • 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...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37567, FLJ43368, MGC87805, DKFZp564A1363

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity TAS
Traceable Author Statement
more info
 
Rac GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion regulated exocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of actin cytoskeleton organization 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
 
Component Evidence Code Pubs
bicellular tight junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intracellular IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
rho GTPase-activating protein 17
Names
RhoGAP interacting with CIP4 homologs 1
neuron-associated developmentally regulated protein
rho-type GTPase-activating protein 17

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_001006634.2NP_001006635.1  rho GTPase-activating protein 17 isoform 1

    See identical proteins and their annotated locations for NP_001006635.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF163257, BC080195, BU187683
    Consensus CDS
    CCDS32409.1
    UniProtKB/Swiss-Prot
    Q68EM7
    Related
    ENSP00000289968.6, OTTHUMP00000256485, ENST00000289968.10, OTTHUMT00000436548
    Conserved Domains (4) summary
    cd07618
    Location:13257
    BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1
    cd04386
    Location:246446
    RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
    cl26386
    Location:522631
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:520789
    Atrophin-1; Atrophin-1 family
  2. NM_018054.5NP_060524.4  rho GTPase-activating protein 17 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AF163257, BC080195, BU187683
    Consensus CDS
    CCDS32408.1
    UniProtKB/Swiss-Prot
    Q68EM7
    Related
    ENSP00000303130.5, OTTHUMP00000256486, ENST00000303665.9, OTTHUMT00000436550
    Conserved Domains (2) summary
    cd07618
    Location:13257
    BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1
    cd04386
    Location:246446
    RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p12 Primary Assembly

    Range
    24919384..25015601 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545877.3XP_011544179.1  rho GTPase-activating protein 17 isoform X5

    Conserved Domains (2) summary
    cd04386
    Location:201401
    RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
    cl12013
    Location:1212
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_011545878.3XP_011544180.1  rho GTPase-activating protein 17 isoform X6

    Conserved Domains (2) summary
    cd07618
    Location:13289
    BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1
    cd04386
    Location:278478
    RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
  3. XM_017023390.1XP_016878879.1  rho GTPase-activating protein 17 isoform X8

  4. XM_011545873.3XP_011544175.1  rho GTPase-activating protein 17 isoform X1

    Conserved Domains (2) summary
    cd07618
    Location:13289
    BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1
    cd04386
    Location:278478
    RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
  5. XM_011545876.2XP_011544178.1  rho GTPase-activating protein 17 isoform X4

    Conserved Domains (2) summary
    cd07618
    Location:13289
    BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1
    cd04386
    Location:278478
    RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
  6. XM_011545875.2XP_011544177.1  rho GTPase-activating protein 17 isoform X3

    Conserved Domains (2) summary
    cd07618
    Location:13289
    BAR_Rich1; The Bin/Amphiphysin/Rvs (BAR) domain of RhoGAP interacting with CIP4 homologs protein 1
    cd04386
    Location:278478
    RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
  7. XM_011545874.3XP_011544176.1  rho GTPase-activating protein 17 isoform X2

    Conserved Domains (3) summary
    cd04386
    Location:277477
    RhoGAP_nadrin; RhoGAP_nadrin: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been ...
    pfam12938
    Location:555661
    M_domain; M domain of GW182
    cl12013
    Location:18288
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  8. XM_024450336.1XP_024306104.1  rho GTPase-activating protein 17 isoform X7

    Conserved Domains (4) summary
    cd04386
    Location:169369
    RhoGAP_nadrin; RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain of Nadrin-like proteins. Nadrin, also named Rich-1, has been shown to be involved in the regulation of Ca2+-dependent exocytosis in neurons and recently has been implicated in ...
    cl12013
    Location:1180
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    cl26386
    Location:445554
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:443712
    Atrophin-1; Atrophin-1 family

RNA

  1. XR_950811.2 RNA Sequence

  2. XR_950810.2 RNA Sequence

  3. XR_950809.2 RNA Sequence

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