Human Gene ARHGAP17 (ENST00000289968.11) from GENCODE V44
  Description: Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA. (from RefSeq NM_001006634)
RefSeq Summary (NM_001006634): 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].
Gencode Transcript: ENST00000289968.11
Gencode Gene: ENSG00000140750.17
Transcript (Including UTRs)
   Position: hg38 chr16:24,919,389-25,015,369 Size: 95,981 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg38 chr16:24,920,130-25,015,261 Size: 95,132 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:24,919,389-25,015,369)mRNA (may differ from genome)Protein (881 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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-  Comments and Description Text from UniProtKB
  ID: RHG17_HUMAN
DESCRIPTION: RecName: Full=Rho GTPase-activating protein 17; AltName: Full=Rho-type GTPase-activating protein 17; AltName: Full=RhoGAP interacting with CIP4 homologs protein 1; Short=RICH-1;
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 activitor in vitro for RAC1.
SUBUNIT: Component of a complex whose core is composed of ARHGAP17, AMOT, MPP5/PALS1, INADL/PATJ and PARD3/PAR3. Interacts with SLC9A3R1, FNBP1, TRIP10, CAPZA (CAPZA1, CAPZA2 or CAPZA3), CAPZB, CD2AP and SH3KBP1/CIN85.
INTERACTION: Q4VCS5:AMOT; NbExp=2; IntAct=EBI-1642807, EBI-2511319; Q4VCS5-2:AMOT; NbExp=4; IntAct=EBI-1642807, EBI-3891843;
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cytoplasm. Cell junction, tight junction. Note=Associates with membranes and concentrates at sites of cell-cell contact.
TISSUE SPECIFICITY: Ubiquitously expressed. Expressed at higher level in heart and placenta.
DOMAIN: The BAR domain mediates the interaction with the coiled coil domain of AMOT, leading to its recruitment to tight junctions.
SIMILARITY: Contains 1 BAR domain.
SIMILARITY: Contains 1 Rho-GAP domain.
SEQUENCE CAUTION: Sequence=AAH01241.1; Type=Erroneous initiation; Sequence=AAQ13586.1; Type=Erroneous initiation; Sequence=AAQ13632.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ARHGAP17
Diseases sorted by gene-association score: deafness, autosomal recessive 25 (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.65 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 788.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.10108-0.445 Picture PostScript Text
3' UTR -205.90741-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004148 - BAR_dom
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom

Pfam Domains:
PF03114 - BAR domain
PF00620 - RhoGAP domain

ModBase Predicted Comparative 3D Structure on Q68EM7
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0017124 SH3 domain binding

Biological Process:
GO:0007165 signal transduction
GO:0043547 positive regulation of GTPase activity
GO:0051056 regulation of small GTPase mediated signal transduction

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  LF207886 - JP 2014500723-A/15389: Polycomb-Associated Non-Coding RNAs.
MA443463 - JP 2018138019-A/15389: Polycomb-Associated Non-Coding RNAs.
AF163257 - Homo sapiens MSTP066 (MST066) mRNA, complete cds.
AF173885 - Homo sapiens MSTP110 (MST110) mRNA, complete cds.
BC080195 - Homo sapiens Rho GTPase activating protein 17, mRNA (cDNA clone MGC:87805 IMAGE:6172310), complete cds.
AK094886 - Homo sapiens cDNA FLJ37567 fis, clone BRCOC2002155, moderately similar to Rattus norvegicus mRNA for Nadrin.
AK023281 - Homo sapiens cDNA FLJ13219 fis, clone NT2RP4001849, weakly similar to SH3-BINDING PROTEIN 3BP-1.
AK027567 - Homo sapiens cDNA FLJ14661 fis, clone NT2RP2002710, weakly similar to SH3-BINDING PROTEIN 3BP-1.
BC001241 - Homo sapiens Rho GTPase activating protein 17, mRNA (cDNA clone IMAGE:3463495), complete cds.
AF113218 - Homo sapiens MSTP038 mRNA, complete cds.
AL833975 - Homo sapiens mRNA; cDNA DKFZp564A1363 (from clone DKFZp564A1363).
AF258580 - Homo sapiens PP4534 mRNA, complete cds.
AK001170 - Homo sapiens cDNA FLJ10308 fis, clone NT2RM2000260.
AF258560 - Homo sapiens PP367 mRNA, complete cds.
JD130246 - Sequence 111270 from Patent EP1572962.
JD285030 - Sequence 266054 from Patent EP1572962.
JD549400 - Sequence 530424 from Patent EP1572962.
JD427940 - Sequence 408964 from Patent EP1572962.
JD085360 - Sequence 66384 from Patent EP1572962.
AK125358 - Homo sapiens cDNA FLJ43368 fis, clone NT2RP8000483, moderately similar to Rattus norvegicus mRNA for Nadrin E2.
FW339994 - Screening.
AK301500 - Homo sapiens cDNA FLJ57216 complete cds, highly similar to Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 2, mRNA.
JD502754 - Sequence 483778 from Patent EP1572962.
AK291691 - Homo sapiens cDNA FLJ77233 complete cds, highly similar to Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.
JD564920 - Sequence 545944 from Patent EP1572962.
JD133553 - Sequence 114577 from Patent EP1572962.
JD116031 - Sequence 97055 from Patent EP1572962.
JD297569 - Sequence 278593 from Patent EP1572962.
AJ306731 - Homo sapiens mRNA for RhoGAP protein (RICH1 gene).
KJ894132 - Synthetic construct Homo sapiens clone ccsbBroadEn_03526 ARHGAP17 gene, encodes complete protein.
AK301055 - Homo sapiens cDNA FLJ57205 complete cds, highly similar to Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.
KJ902765 - Synthetic construct Homo sapiens clone ccsbBroadEn_12159 ARHGAP17 gene, encodes complete protein.
LF369800 - JP 2014500723-A/177303: Polycomb-Associated Non-Coding RNAs.
MA605377 - JP 2018138019-A/177303: Polycomb-Associated Non-Coding RNAs.
LF369803 - JP 2014500723-A/177306: Polycomb-Associated Non-Coding RNAs.
MA605380 - JP 2018138019-A/177306: Polycomb-Associated Non-Coding RNAs.
LF369804 - JP 2014500723-A/177307: Polycomb-Associated Non-Coding RNAs.
MA605381 - JP 2018138019-A/177307: Polycomb-Associated Non-Coding RNAs.
LF369805 - JP 2014500723-A/177308: Polycomb-Associated Non-Coding RNAs.
MA605382 - JP 2018138019-A/177308: Polycomb-Associated Non-Coding RNAs.
LF369806 - JP 2014500723-A/177309: Polycomb-Associated Non-Coding RNAs.
MA605383 - JP 2018138019-A/177309: Polycomb-Associated Non-Coding RNAs.
AJ306732 - Homo sapiens mRNA for RICH1B protein (RICH1 gene) splice variant.
LF369814 - JP 2014500723-A/177317: Polycomb-Associated Non-Coding RNAs.
MA605391 - JP 2018138019-A/177317: Polycomb-Associated Non-Coding RNAs.
JD406029 - Sequence 387053 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q68EM7 (Reactome details) participates in the following event(s):

R-HSA-194922 GAPs inactivate Rho GTPase:GTP by hydrolysis
R-HSA-194840 Rho GTPase cycle
R-HSA-194315 Signaling by Rho GTPases
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6M6, ENST00000289968.1, ENST00000289968.10, ENST00000289968.2, ENST00000289968.3, ENST00000289968.4, ENST00000289968.5, ENST00000289968.6, ENST00000289968.7, ENST00000289968.8, ENST00000289968.9, MSTP066, MSTP110, NM_001006634, Q68EM7, Q6ZUS4, Q7Z2F2, Q8NDG2, Q96KS2, Q96KS3, Q96SS8, Q9BVF6, Q9H8U5, Q9NW54, RHG17_HUMAN, RICH1, uc002dnb.1, uc002dnb.2, uc002dnb.3, uc002dnb.4, uc002dnb.5, uc002dnb.6
UCSC ID: ENST00000289968.11
RefSeq Accession: NM_001006634
Protein: Q68EM7 (aka RHG17_HUMAN)
CCDS: CCDS32409.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.