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Aliases for ARHGAP17 Gene

Aliases for ARHGAP17 Gene

  • Rho GTPase Activating Protein 17 2 3 5
  • Rho-Type GTPase-Activating Protein 17 3 4
  • RICH-1 3 4
  • RICH1 3 4
  • Neuron-Associated Developmentally Regulated Protein 3
  • RhoGAP Interacting With CIP4 Homologs Protein 1 4
  • RhoGAP Interacting With CIP4 Homologs 1 3
  • Rho GTPase-Activating Protein 17 3
  • MSTP038 3
  • MSTP066 3
  • MSTP110 3
  • MST066 3
  • MST110 3
  • NADRIN 3
  • PP4534 3
  • PP367 3
  • WBP15 3

External Ids for ARHGAP17 Gene

Previous GeneCards Identifiers for ARHGAP17 Gene

  • GC16M024898
  • GC16M024838
  • GC16M023024

Summaries for ARHGAP17 Gene

Entrez Gene Summary for ARHGAP17 Gene

  • 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]

GeneCards Summary for ARHGAP17 Gene

ARHGAP17 (Rho GTPase Activating Protein 17) is a Protein Coding gene. Diseases associated with ARHGAP17 include Deafness, Autosomal Recessive 25. Among its related pathways are G-protein signaling_Regulation of CDC42 activity and p75 NTR receptor-mediated signalling. GO annotations related to this gene include GTPase activator activity and SH3 domain binding. An important paralog of this gene is ARHGAP44.

UniProtKB/Swiss-Prot for ARHGAP17 Gene

  • Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the Ca(2+)-dependent regulation of exocytosis, possibly by catalyzing GTPase activity of Rho family proteins and by inducing the reorganization of the cortical actin filaments. Acts as a GTPase activator in vitro for RAC1.

Additional gene information for ARHGAP17 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGAP17 Gene

Genomics for ARHGAP17 Gene

Regulatory Elements for ARHGAP17 Gene

Enhancers for ARHGAP17 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H025256 1.2 ENCODE 44.5 -242.2 -242197 2 MLX ZFP64 FEZF1 DMAP1 ZNF416 ZNF143 ZNF548 SP3 NFYC MEF2D RBBP6 LOC554206 HMGN2P3 SCML2P2 ENSG00000261669 ARHGAP17 ZKSCAN2 ENSG00000263326 LCMT1-AS2 LOC100421173
GH16H025047 2 FANTOM5 Ensembl ENCODE dbSUPER 22.9 -34.7 -34652 5 HDGF PKNOX1 ARNT ZFP64 SIN3A FEZF1 ZNF2 ZNF143 ZNF207 FOS RBBP6 HMGN2P3 ENSG00000263326 ENSG00000261669 SCML2P2 LOC554206 ARHGAP17 ZKSCAN2 LOC100421173 LCMT1-AS2
GH16H024982 1.6 Ensembl ENCODE dbSUPER 26.2 +25.7 25703 14 PKNOX1 FOXA2 MLX ARID4B FEZF1 ZNF2 YY1 ZNF766 ZNF548 FOS ARHGAP17 RBBP6 SLC5A11 LOC554206 ENSG00000261669 PIR57337 GC16M024999 GC16P024922
GH16H025059 1.8 FANTOM5 Ensembl ENCODE dbSUPER 18.2 -48.3 -48316 7 HDGF PKNOX1 ATF1 ARID4B SIN3A YY1 GLIS2 ELK1 ATF7 RUNX3 ARHGAP17 LCMT1 RBBP6 LINC02175 LOC100421173 LCMT1-AS1 SLC5A11 LOC554206
GH16H025055 1.4 Ensembl ENCODE dbSUPER 22.8 -40.0 -40036 0 HDGF RB1 ARNT ARID4B ZNF2 RAD21 CHAMP1 GTF3C2 ZNF143 RCOR1 ARHGAP17 RBBP6 LCMT1 LCMT1-AS2 HMGN2P3 LINC02175 LOC554206
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ARHGAP17 on UCSC Golden Path with GeneCards custom track

Promoters for ARHGAP17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000084692 766 2201 HDGF PKNOX1 ATF1 FOXA2 ZFP64 ARID4B SIN3A YY1 SLC30A9 ZNF766

Genomic Location for ARHGAP17 Gene

Chromosome:
16
Start:
24,919,384 bp from pter
End:
25,015,666 bp from pter
Size:
96,283 bases
Orientation:
Minus strand

Genomic View for ARHGAP17 Gene

Genes around ARHGAP17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP17 Gene

Proteins for ARHGAP17 Gene

  • Protein details for ARHGAP17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68EM7-RHG17_HUMAN
    Recommended name:
    Rho GTPase-activating protein 17
    Protein Accession:
    Q68EM7
    Secondary Accessions:
    • A8K6M6
    • Q6ZUS4
    • Q7Z2F2
    • Q8NDG2
    • Q96KS2
    • Q96KS3
    • Q96SS8
    • Q9BVF6
    • Q9H8U5
    • Q9NW54

    Protein attributes for ARHGAP17 Gene

    Size:
    881 amino acids
    Molecular mass:
    95437 Da
    Quaternary structure:
    • Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1, PATJ and PARD3/PAR3. Interacts with SLC9A3R1, FNBP1, TRIP10, CAPZA (CAPZA1, CAPZA2 or CAPZA3), CAPZB, CD2AP and SH3KBP1/CIN85.
    SequenceCaution:
    • Sequence=AAH01241.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAQ13586.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAQ13632.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGAP17 Gene

neXtProt entry for ARHGAP17 Gene

Post-translational modifications for ARHGAP17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ARHGAP17 Gene

Domains & Families for ARHGAP17 Gene

Gene Families for ARHGAP17 Gene

Protein Domains for ARHGAP17 Gene

Suggested Antigen Peptide Sequences for ARHGAP17 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q68EM7

UniProtKB/Swiss-Prot:

RHG17_HUMAN :
  • The BAR domain mediates the interaction with the coiled coil domain of AMOT, leading to its recruitment to tight junctions.
Domain:
  • The BAR domain mediates the interaction with the coiled coil domain of AMOT, leading to its recruitment to tight junctions.
genes like me logo Genes that share domains with ARHGAP17: view

Function for ARHGAP17 Gene

Molecular function for ARHGAP17 Gene

UniProtKB/Swiss-Prot Function:
Rho GTPase-activating protein involved in the maintenance of tight junction by regulating the activity of CDC42, thereby playing a central role in apical polarity of epithelial cells. Specifically acts as a GTPase activator for the CDC42 GTPase by converting it to an inactive GDP-bound state. The complex formed with AMOT acts by regulating the uptake of polarity proteins at tight junctions, possibly by deciding whether tight junction transmembrane proteins are recycled back to the plasma membrane or sent elsewhere. Participates in the Ca(2+)-dependent regulation of exocytosis, possibly by catalyzing GTPase activity of Rho family proteins and by inducing the reorganization of the cortical actin filaments. Acts as a GTPase activator in vitro for RAC1.

Phenotypes From GWAS Catalog for ARHGAP17 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 21481793
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with ARHGAP17: view
genes like me logo Genes that share phenotypes with ARHGAP17: view

Animal Models for ARHGAP17 Gene

MGI Knock Outs for ARHGAP17:

Animal Model Products

CRISPR Products

miRNA for ARHGAP17 Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARHGAP17
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGAP17 Gene

Localization for ARHGAP17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP17 Gene

Membrane; Peripheral membrane protein. Cytoplasm. Cell junction, tight junction. Note=Associates with membranes and concentrates at sites of cell-cell contact.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARHGAP17 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGAP17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IEA --
genes like me logo Genes that share ontologies with ARHGAP17: view

Pathways & Interactions for ARHGAP17 Gene

genes like me logo Genes that share pathways with ARHGAP17: view

Pathways by source for ARHGAP17 Gene

1 GeneTex pathway for ARHGAP17 Gene
2 BioSystems pathways for ARHGAP17 Gene
3 Reactome pathways for ARHGAP17 Gene
1 KEGG pathway for ARHGAP17 Gene
1 GeneGo (Thomson Reuters) pathway for ARHGAP17 Gene

Gene Ontology (GO) - Biological Process for ARHGAP17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with ARHGAP17: view

No data available for SIGNOR curated interactions for ARHGAP17 Gene

Drugs & Compounds for ARHGAP17 Gene

No Compound Related Data Available

Transcripts for ARHGAP17 Gene

Unigene Clusters for ARHGAP17 Gene

Rho GTPase activating protein 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ARHGAP17
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP17 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c · 17d ·
SP1: -
SP2: - -
SP3: -
SP4: - -
SP5: -
SP6: -
SP7: -
SP8: -
SP9:
SP10: - -
SP11: - - -

ExUns: 17e
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ARHGAP17 Gene

GeneLoc Exon Structure for
ARHGAP17
ECgene alternative splicing isoforms for
ARHGAP17

Expression for ARHGAP17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARHGAP17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP17 Gene

This gene is overexpressed in Blymphocyte (13.6), Lymph node (12.8), and Peripheral blood mononuclear cells (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ARHGAP17 Gene



Protein tissue co-expression partners for ARHGAP17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARHGAP17 Gene:

ARHGAP17

SOURCE GeneReport for Unigene cluster for ARHGAP17 Gene:

Hs.373793

mRNA Expression by UniProt/SwissProt for ARHGAP17 Gene:

Q68EM7-RHG17_HUMAN
Tissue specificity: Ubiquitously expressed. Expressed at higher level in heart and placenta.

Evidence on tissue expression from TISSUES for ARHGAP17 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Eye(4.1)
genes like me logo Genes that share expression patterns with ARHGAP17: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP17 Gene

Orthologs for ARHGAP17 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARHGAP17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP17 33 34
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia ARHGAP17 33 34
  • 88.54 (n)
cow
(Bos Taurus)
Mammalia ARHGAP17 33 34
  • 87.88 (n)
mouse
(Mus musculus)
Mammalia Arhgap17 33 16 34
  • 82.48 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap17 33
  • 81.05 (n)
oppossum
(Monodelphis domestica)
Mammalia ARHGAP17 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP17 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves ARHGAP17 33 34
  • 73.58 (n)
lizard
(Anolis carolinensis)
Reptilia ARHGAP17 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgap17 33
  • 72.1 (n)
zebrafish
(Danio rerio)
Actinopterygii arhgap17b 33 34
  • 67.55 (n)
ARHGAP17 (2 of 3) 34
  • 61 (a)
OneToMany
arhgap17a 34
  • 57 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009727 33
  • 46 (n)
fruit fly
(Drosophila melanogaster)
Insecta RhoGAP92B 33 34
  • 44.56 (n)
worm
(Caenorhabditis elegans)
Secernentea Y34B4A.8 34
  • 25 (a)
OneToMany
Species where no ortholog for ARHGAP17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARHGAP17 Gene

ENSEMBL:
Gene Tree for ARHGAP17 (if available)
TreeFam:
Gene Tree for ARHGAP17 (if available)

Paralogs for ARHGAP17 Gene

(3) SIMAP similar genes for ARHGAP17 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for ARHGAP17 Gene

genes like me logo Genes that share paralogs with ARHGAP17: view

Variants for ARHGAP17 Gene

Sequence variations from dbSNP and Humsavar for ARHGAP17 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000017761 -- 24,967,843(+) CAAAG(A/C)AGAGG intron-variant
rs1000032767 -- 24,988,747(+) TGCTA(G/T)CCCTG intron-variant
rs1000121285 -- 25,010,986(+) CAGAG(C/G)CTCAG intron-variant
rs1000128145 -- 24,947,838(+) CCCTA(C/T)TGGCT intron-variant
rs1000128933 -- 24,975,261(+) ATGCA(G/T)GCTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP17 Gene

Variant ID Type Subtype PubMed ID
esv2758638 CNV gain+loss 17122850
esv3363317 CNV insertion 20981092
esv3638261 CNV loss 21293372
esv3638263 CNV loss 21293372
nsv1113771 CNV deletion 24896259
nsv1123021 CNV deletion 24896259
nsv1123022 CNV deletion 24896259
nsv509607 CNV insertion 20534489
nsv833175 CNV loss 17160897
nsv974787 CNV duplication 23825009

Variation tolerance for ARHGAP17 Gene

Residual Variation Intolerance Score: 16.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.93; 49.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGAP17 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP17

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP17 Gene

Disorders for ARHGAP17 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ARHGAP17 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal recessive 25
  • autosomal recessive nonsyndromic deafness 25
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ARHGAP17

Genetic Association Database (GAD)
ARHGAP17
Human Genome Epidemiology (HuGE) Navigator
ARHGAP17
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGAP17
genes like me logo Genes that share disorders with ARHGAP17: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP17 Gene

Publications for ARHGAP17 Gene

  1. Rich, a rho GTPase-activating protein domain-containing protein involved in signaling by Cdc42 and Rac1. (PMID: 11431473) Richnau N … Aspenström P (The Journal of biological chemistry 2001) 2 3 4 60
  2. Identification of EPI64, a TBC/rabGAP domain-containing microvillar protein that binds to the first PDZ domain of EBP50 and E3KARP. (PMID: 11285285) Reczek D … Bretscher A (The Journal of cell biology 2001) 3 4 22 60
  3. Nadrin, a novel neuron-specific GTPase-activating protein involved in regulated exocytosis. (PMID: 10967100) Harada A … Umeda M (The Journal of biological chemistry 2000) 2 3 22 60
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  5. A Rich1/Amot complex regulates the Cdc42 GTPase and apical-polarity proteins in epithelial cells. (PMID: 16678097) Wells CD … Pawson T (Cell 2006) 3 4 60

Products for ARHGAP17 Gene

Sources for ARHGAP17 Gene

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