Human Gene ARHGAP29 (uc001dqj.4)
  Description: Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.
RefSeq Summary (NM_004815): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:94,634,463-94,703,307 Size: 68,845 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr1:94,639,425-94,697,167 Size: 57,743 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:94,634,463-94,703,307)mRNA (may differ from genome)Protein (1261 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RHG29_HUMAN
DESCRIPTION: RecName: Full=Rho GTPase-activating protein 29; AltName: Full=PTPL1-associated RhoGAP protein 1; AltName: Full=Rho-type GTPase-activating protein 29;
FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RASIP1, suppresses RhoA signaling and dampens ROCK and MYH9 activities in endothelial cells and plays an essential role in blood vessel tubulogenesis.
SUBUNIT: Interacts with PTPN13/PTPL1. Interacts with RAP2A via its coiled coil domain. Interacts with RASIP1 (By similarity).
TISSUE SPECIFICITY: Widely expressed. Highly expressed in skeletal muscle and heart. Expressed at intermediate level in placenta, liver and pancreas. Weakly expressed in brain, lung and kidney.
INDUCTION: Strongly down-regulated in mantle-cell lymphomas. Up- regulated in migrating glioma cells.
SIMILARITY: Contains 1 phorbol-ester/DAG-type zinc finger.
SIMILARITY: Contains 1 Rho-GAP domain.
SEQUENCE CAUTION: Sequence=AAH67839.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ARHGAP29
CDC HuGE Published Literature: ARHGAP29

-  MalaCards Disease Associations
  MalaCards Gene Search: ARHGAP29
Diseases sorted by gene-association score: adhesions of uterus (16), cleft lip/palate* (12), cleft lip (10), cleft palate, isolated (5)
* = Manually curated disease association

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

+  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: 13.41 RPKM in Adipose - Subcutaneous
Total median expression: 223.07 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 -235.80369-0.639 Picture PostScript Text
3' UTR -1245.344962-0.251 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
IPR002219 - Prot_Kinase_C-like_PE/DAG-bd
IPR008936 - Rho_GTPase_activation_prot
IPR000198 - RhoGAP_dom

Pfam Domains:
PF00130 - Phorbol esters/diacylglycerol binding domain (C1 domain)
PF00620 - RhoGAP domain

SCOP Domains:
48350 - GTPase activation domain, GAP
57889 - Cysteine-rich domain

ModBase Predicted Comparative 3D Structure on Q52LW3
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0030165 PDZ domain binding
GO:0046872 metal ion binding

Biological Process:
GO:0007165 signal transduction
GO:0007266 Rho protein signal transduction
GO:0035556 intracellular signal transduction
GO:0043547 positive regulation of GTPase activity
GO:0051056 regulation of small GTPase mediated signal transduction

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK310491 - Homo sapiens cDNA, FLJ17533.
AK092668 - Homo sapiens cDNA FLJ35349 fis, clone PUAEN1000039.
BC037337 - Homo sapiens cDNA clone IMAGE:5264978.
AB208873 - Homo sapiens mRNA for PTPL1-associated RhoGAP 1 variant protein.
U90920 - Human PTPL1-associated RhoGAP mRNA, complete cds.
JD313186 - Sequence 294210 from Patent EP1572962.
JD203865 - Sequence 184889 from Patent EP1572962.
JD265493 - Sequence 246517 from Patent EP1572962.
JD359716 - Sequence 340740 from Patent EP1572962.
JD302132 - Sequence 283156 from Patent EP1572962.
JD349746 - Sequence 330770 from Patent EP1572962.
JD379901 - Sequence 360925 from Patent EP1572962.
JD487446 - Sequence 468470 from Patent EP1572962.
JD284213 - Sequence 265237 from Patent EP1572962.
JD077818 - Sequence 58842 from Patent EP1572962.
BC093741 - Homo sapiens Rho GTPase activating protein 29, mRNA (cDNA clone MGC:120776 IMAGE:7939586), complete cds.
BC093767 - Homo sapiens Rho GTPase activating protein 29, mRNA (cDNA clone MGC:120802 IMAGE:7939612), complete cds.
AL833445 - Homo sapiens mRNA; cDNA DKFZp686C21109 (from clone DKFZp686C21109).
AK307733 - Homo sapiens cDNA, FLJ97681.
BC067839 - Homo sapiens Rho GTPase activating protein 29, mRNA (cDNA clone IMAGE:5276375), partial cds.
BC022483 - Homo sapiens Rho GTPase activating protein 29, mRNA (cDNA clone IMAGE:4795792), complete cds.
KJ904624 - Synthetic construct Homo sapiens clone ccsbBroadEn_14018 ARHGAP29 gene, encodes complete protein.
CU692644 - Synthetic construct Homo sapiens gateway clone IMAGE:100018205 5' read ARHGAP29 mRNA.
JD485480 - Sequence 466504 from Patent EP1572962.
JD544309 - Sequence 525333 from Patent EP1572962.

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

Protein Q52LW3 (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: NM_004815, NP_004806, O15463, PARG1, Q52LW3, Q59H86, Q5VYZ0, Q6NVX2, Q8TBI6, RHG29_HUMAN
UCSC ID: uc001dqj.4
RefSeq Accession: NM_004815
Protein: Q52LW3 (aka RHG29_HUMAN)
CCDS: CCDS748.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004815.3
exon count: 23CDS single in 3' UTR: no RNA size: 9121
ORF size: 3786CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7636.00frame shift in genome: no % Coverage: 99.96
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 5697# strange splices: 0
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.