Human Gene ARHGAP6 (ENST00000337414.9_9) from GENCODE V47lift37
  Description: Rho GTPase activating protein 6, transcript variant 1 (from RefSeq NM_013427.3)
Gencode Transcript: ENST00000337414.9_9
Gencode Gene: ENSG00000047648.23_14
Transcript (Including UTRs)
   Position: hg19 chrX:11,155,664-11,684,040 Size: 528,377 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chrX:11,156,983-11,682,948 Size: 525,966 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:11,155,664-11,684,040)mRNA (may differ from genome)Protein (974 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RHG06_HUMAN
DESCRIPTION: RecName: Full=Rho GTPase-activating protein 6; AltName: Full=Rho-type GTPase-activating protein 6; AltName: Full=Rho-type GTPase-activating protein RhoGAPX-1;
FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell morphology.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Highly expressed in kidney, heart and skeletal muscle followed by retina, lymphoblast, placenta, lung, brain, pancreas and liver.
MISCELLANEOUS: ARHGAP6 gene undergoes X inactivation.
SIMILARITY: Contains 1 Rho-GAP domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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: ARHGAP6
Diseases sorted by gene-association score: microphthalmia (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.34 RPKM in Prostate
Total median expression: 156.61 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 -551.901092-0.505 Picture PostScript Text
3' UTR -280.901319-0.213 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
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom

Pfam Domains:
PF00620 - RhoGAP domain

SCOP Domains:
48350 - GTPase activation domain, GAP
81301 - Nucleotidyltransferase

ModBase Predicted Comparative 3D Structure on O43182
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005070 SH3/SH2 adaptor activity
GO:0005096 GTPase activator activity
GO:0016004 phospholipase activator activity
GO:0017124 SH3 domain binding
GO:0043274 phospholipase binding

Biological Process:
GO:0007015 actin filament organization
GO:0007165 signal transduction
GO:0007202 activation of phospholipase C activity
GO:0007266 Rho protein signal transduction
GO:0009967 positive regulation of signal transduction
GO:0010518 positive regulation of phospholipase activity
GO:0030041 actin filament polymerization
GO:0043087 regulation of GTPase activity
GO:0043547 positive regulation of GTPase activity
GO:0048041 focal adhesion assembly
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051497 negative regulation of stress fiber assembly
GO:0051895 negative regulation of focal adhesion assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005884 actin filament
GO:0015629 actin cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  AF022212 - Homo sapiens Rho GTPase activating protein 6 isoform 2 (ARHGAP6) mRNA, alternatively spliced, complete cds.
AF117067 - Homo sapiens rho-type GTPase-activating protein isoform 3 (ARHGAP6) mRNA, complete cds.
AB208792 - Homo sapiens mRNA for Rho GTPase activating protein 6 isoform 1 variant protein.
BC150635 - Homo sapiens Rho GTPase activating protein 6, mRNA (cDNA clone MGC:183545 IMAGE:9057005), complete cds.
AK293078 - Homo sapiens cDNA FLJ77478 complete cds, highly similar to Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.
KJ896454 - Synthetic construct Homo sapiens clone ccsbBroadEn_05848 ARHGAP6 gene, encodes complete protein.
AF012272 - Homo sapiens Rho GTPase activating protein 6 isoform 3 (ARHGAP6) mRNA, complete cds.
AK297713 - Homo sapiens cDNA FLJ59725 complete cds, highly similar to Rho-GTPase-activating protein 6.
BC035785 - Homo sapiens cDNA clone IMAGE:5589104, containing frame-shift errors.
AF177663 - Homo sapiens GTPase-activating protein 6 isoform 4 (ARHGAP6) mRNA, alternatively spliced, complete cds.
AF177665 - Homo sapiens rho GTPase-activating protein 6 isoform 5 (ARHGAP6) mRNA, complete cds.
AK303444 - Homo sapiens cDNA FLJ55566 complete cds, highly similar to Rho-GTPase-activating protein 6.
JD262432 - Sequence 243456 from Patent EP1572962.
JD501821 - Sequence 482845 from Patent EP1572962.
JD144992 - Sequence 126016 from Patent EP1572962.
JD349247 - Sequence 330271 from Patent EP1572962.
JD039351 - Sequence 20375 from Patent EP1572962.
JD484200 - Sequence 465224 from Patent EP1572962.
JD124722 - Sequence 105746 from Patent EP1572962.
AK297747 - Homo sapiens cDNA FLJ57853 complete cds, highly similar to Rho-GTPase-activating protein 6.
JD151256 - Sequence 132280 from Patent EP1572962.
JD068564 - Sequence 49588 from Patent EP1572962.
JD392704 - Sequence 373728 from Patent EP1572962.
JD037421 - Sequence 18445 from Patent EP1572962.
JD436900 - Sequence 417924 from Patent EP1572962.
JD216240 - Sequence 197264 from Patent EP1572962.
JD459058 - Sequence 440082 from Patent EP1572962.
JD199951 - Sequence 180975 from Patent EP1572962.
JD514316 - Sequence 495340 from Patent EP1572962.
JD108235 - Sequence 89259 from Patent EP1572962.
JD116663 - Sequence 97687 from Patent EP1572962.
JD460636 - Sequence 441660 from Patent EP1572962.
JD057058 - Sequence 38082 from Patent EP1572962.
JD465768 - Sequence 446792 from Patent EP1572962.
JD342646 - Sequence 323670 from Patent EP1572962.
JD246536 - Sequence 227560 from Patent EP1572962.
JD246537 - Sequence 227561 from Patent EP1572962.
JD464074 - Sequence 445098 from Patent EP1572962.
JD525755 - Sequence 506779 from Patent EP1572962.
JD471919 - Sequence 452943 from Patent EP1572962.
JD454691 - Sequence 435715 from Patent EP1572962.
JD310566 - Sequence 291590 from Patent EP1572962.
JD508354 - Sequence 489378 from Patent EP1572962.
JD111625 - Sequence 92649 from Patent EP1572962.
JD521589 - Sequence 502613 from Patent EP1572962.
JD411601 - Sequence 392625 from Patent EP1572962.
JD119143 - Sequence 100167 from Patent EP1572962.
JD487644 - Sequence 468668 from Patent EP1572962.
JD406360 - Sequence 387384 from Patent EP1572962.
JD200564 - Sequence 181588 from Patent EP1572962.
JD214080 - Sequence 195104 from Patent EP1572962.
JD465873 - Sequence 446897 from Patent EP1572962.
JD466028 - Sequence 447052 from Patent EP1572962.
JD540700 - Sequence 521724 from Patent EP1572962.
JD514372 - Sequence 495396 from Patent EP1572962.
JD111355 - Sequence 92379 from Patent EP1572962.
JD388555 - Sequence 369579 from Patent EP1572962.
JD496528 - Sequence 477552 from Patent EP1572962.
JD455433 - Sequence 436457 from Patent EP1572962.
JD478034 - Sequence 459058 from Patent EP1572962.
JD203154 - Sequence 184178 from Patent EP1572962.
JD479824 - Sequence 460848 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_rhoPathway - Rho cell motility signaling pathway

Reactome (by CSHL, EBI, and GO)

Protein O43182 (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: B2RWQ0, ENST00000337414.1, ENST00000337414.2, ENST00000337414.3, ENST00000337414.4, ENST00000337414.5, ENST00000337414.6, ENST00000337414.7, ENST00000337414.8, NM_013427, O43182, O43437, Q9P1B3, Q9UK81, Q9UK82, RHG06_HUMAN, RHOGAP6, uc317utn.1, uc317utn.2
UCSC ID: ENST00000337414.9_9
RefSeq Accession: NM_013427.3
Protein: O43182 (aka RHG06_HUMAN or RHG6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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