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 ... See more...

Aliases for ARHGAP29 Gene

Aliases for ARHGAP29 Gene

  • Rho GTPase Activating Protein 29 2 3 5
  • Rho-Type GTPase-Activating Protein 29 3 4
  • PTPL1-Associated RhoGAP Protein 1 3 4
  • Rho GTPase-Activating Protein 29 3 4
  • PARG1 3 4
  • PTPL1-Associated RhoGAP 1 (PARG1) 3

External Ids for ARHGAP29 Gene

Previous GeneCards Identifiers for ARHGAP29 Gene

  • GC01M094350
  • GC01M094407
  • GC01M094634
  • GC01M092755
  • GC01M094616

Summaries for ARHGAP29 Gene

Entrez Gene Summary for ARHGAP29 Gene

  • 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]

GeneCards Summary for ARHGAP29 Gene

ARHGAP29 (Rho GTPase Activating Protein 29) is a Protein Coding gene. Diseases associated with ARHGAP29 include Cleft Lip With Or Without Cleft Palate and Cleft Lip. Among its related pathways are Hypothetical Craniofacial Development Pathway and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and PDZ domain binding. An important paralog of this gene is ARHGAP45.

UniProtKB/Swiss-Prot Summary for ARHGAP29 Gene

  • 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.

Additional gene information for ARHGAP29 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARHGAP29 Gene

Genomics for ARHGAP29 Gene

GeneHancer (GH) Regulatory Elements for ARHGAP29 Gene

Promoters and enhancers for ARHGAP29 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J094232 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 755.6 +38.4 38405 7.4 POLR2A ZNF362 RAD21 MNT BCL6B SP1 ZNF384 MAFK SP7 ZSCAN21 ARHGAP29 ARHGAP29-AS1 RWDD3 DNTTIP2 DR1 ABCA4 CCDC18-AS1 ABCD3 lnc-ABCA4-2
GH01J094314 Promoter/Enhancer 0.8 EPDnew Ensembl 750.3 -39.6 -39633 0.6 SP1 HNF1A ZNF384 CEBPA MAX ARHGAP29 lnc-ABCD3-5 ENSG00000236098 LOC105378859 ARHGAP29-AS1
GH01J094273 Enhancer 0.4 Ensembl dbSUPER 750.6 +1.9 1867 0.8 FOS ARHGAP29 ARHGAP29-AS1
GH01J094274 Enhancer 0.4 Ensembl dbSUPER 750.6 +0.3 267 0.4 TFAP4 ARHGAP29 ARHGAP29-AS1
GH01J094753 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.7 -480.8 -480824 5.8 RBPJ NR2F6 MYC HLF L3MBTL2 MAX ZNF652 ELF3 SP1 MAFK SLC44A3 F3 SLC44A3-AS1 ARHGAP29 RWDD3 MIR378G
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARHGAP29 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARHGAP29 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • FOXD3
  • GATA-3
  • Ik-1
  • p53
  • PPAR-gamma2
  • SRF
  • SRF (504 AA)
  • TBP

Genomic Locations for ARHGAP29 Gene

Genomic Locations for ARHGAP29 Gene
chr1:94,148,988-94,275,068
(GRCh38/hg38)
Size:
126,081 bases
Orientation:
Minus strand
chr1:94,614,544-94,740,624
(GRCh37/hg19)
Size:
126,081 bases
Orientation:
Minus strand

Genomic View for ARHGAP29 Gene

Genes around ARHGAP29 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGAP29 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGAP29 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGAP29 Gene

Proteins for ARHGAP29 Gene

  • Protein details for ARHGAP29 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q52LW3-RHG29_HUMAN
    Recommended name:
    Rho GTPase-activating protein 29
    Protein Accession:
    Q52LW3
    Secondary Accessions:
    • O15463
    • Q59H86
    • Q5VYZ0
    • Q6NVX2
    • Q8TBI6

    Protein attributes for ARHGAP29 Gene

    Size:
    1261 amino acids
    Molecular mass:
    142064 Da
    Quaternary structure:
    • Interacts with PTPN13/PTPL1. Interacts with RAP2A via its coiled coil domain. Interacts with RASIP1 (By similarity).
    SequenceCaution:
    • Sequence=AAH67839.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARHGAP29 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGAP29 Gene

Post-translational modifications for ARHGAP29 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ARHGAP29 Gene

No data available for DME Specific Peptides for ARHGAP29 Gene

Domains & Families for ARHGAP29 Gene

Gene Families for ARHGAP29 Gene

Protein Domains for ARHGAP29 Gene

Suggested Antigen Peptide Sequences for ARHGAP29 Gene

GenScript: Design optimal peptide antigens:
  • Rho-type GTPase-activating protein 29 (RHG29_HUMAN)
genes like me logo Genes that share domains with ARHGAP29: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARHGAP29 Gene

Function for ARHGAP29 Gene

Molecular function for ARHGAP29 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Strongly down-regulated in mantle-cell lymphomas. Up-regulated in migrating glioma cells.

Phenotypes From GWAS Catalog for ARHGAP29 Gene

Gene Ontology (GO) - Molecular Function for ARHGAP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 GTPase activator activity IEA --
GO:0030165 PDZ domain binding IDA 23209302
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARHGAP29: view
genes like me logo Genes that share phenotypes with ARHGAP29: view

Animal Models for ARHGAP29 Gene

MGI Knock Outs for ARHGAP29:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGAP29 Gene

Localization for ARHGAP29 Gene

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 ARHGAP29 gene
Compartment Confidence
cytosol 5
nucleus 3
cytoskeleton 2
plasma membrane 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARHGAP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 25468996
GO:0005829 cytosol TAS --
GO:0032991 protein-containing complex IDA 26780829
genes like me logo Genes that share ontologies with ARHGAP29: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP29 Gene

Pathways & Interactions for ARHGAP29 Gene

genes like me logo Genes that share pathways with ARHGAP29: view

Pathways by source for ARHGAP29 Gene

1 BioSystems pathway for ARHGAP29 Gene
3 Reactome pathways for ARHGAP29 Gene
1 GeneTex pathway for ARHGAP29 Gene

Gene Ontology (GO) - Biological Process for ARHGAP29 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0007266 Rho protein signal transduction TAS 9305890
GO:0035556 intracellular 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 ARHGAP29: view

No data available for SIGNOR curated interactions for ARHGAP29 Gene

Drugs & Compounds for ARHGAP29 Gene

(4) Additional Compounds for ARHGAP29 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-arachidonyl-3-behenoyl-sn-glycerol
  • DAG(42:0)
  • Diacylglycerol(20:0/0:0/22:0)
  • DG(42:0)
  • Diglyceride
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-Stearoyl-2-palmitoyl-sn-glycerol
  • DAG(18:0/16:0)
  • DAG(34:0)
  • DG(18:0/16:0)
  • DG(34:0)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with ARHGAP29: view

Transcripts for ARHGAP29 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGAP29 Gene

No ASD Table

Relevant External Links for ARHGAP29 Gene

GeneLoc Exon Structure for
ARHGAP29
ECgene alternative splicing isoforms for
ARHGAP29

Expression for ARHGAP29 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARHGAP29 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARHGAP29 Gene

This gene is overexpressed in Esophagus (36.2), Breast (11.5), and Bone (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP29 Gene



NURSA nuclear receptor signaling pathways regulating expression of ARHGAP29 Gene:

ARHGAP29

SOURCE GeneReport for Unigene cluster for ARHGAP29 Gene:

Hs.483238

mRNA Expression by UniProt/SwissProt for ARHGAP29 Gene:

Q52LW3-RHG29_HUMAN
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.

Evidence on tissue expression from TISSUES for ARHGAP29 Gene

  • Nervous system(4.3)
  • Liver(4.2)
  • Muscle(4.2)
  • Intestine(4.1)
genes like me logo Genes that share expression patterns with ARHGAP29: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP29 Gene

Orthologs for ARHGAP29 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGAP29 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARHGAP29 33 32
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGAP29 33 32
  • 88.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ARHGAP29 33 32
  • 87.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Arhgap29 17 33 32
  • 84.53 (n)
rat
(Rattus norvegicus)
Mammalia Arhgap29 32
  • 83.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGAP29 33
  • 51 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 49 (a)
OneToMany
-- 33
  • 46 (a)
OneToMany
chicken
(Gallus gallus)
Aves ARHGAP29 33
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARHGAP29 33
  • 50 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii arhgap29b 33
  • 41 (a)
OneToMany
arhgap29a 33
  • 41 (a)
OneToMany
sbcb905 32
worm
(Caenorhabditis elegans)
Secernentea spv-1 33
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RGA2 33
  • 15 (a)
ManyToMany
RGA1 33
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 38 (a)
OneToMany
Species where no ortholog for ARHGAP29 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ARHGAP29 Gene

ENSEMBL:
Gene Tree for ARHGAP29 (if available)
TreeFam:
Gene Tree for ARHGAP29 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARHGAP29: view image

Paralogs for ARHGAP29 Gene

Paralogs for ARHGAP29 Gene

(4) SIMAP similar genes for ARHGAP29 Gene using alignment to 2 proteins:

  • RHG29_HUMAN
  • F8VWZ8_HUMAN
genes like me logo Genes that share paralogs with ARHGAP29: view

Variants for ARHGAP29 Gene

Sequence variations from dbSNP and Humsavar for ARHGAP29 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1114167280 pathogenic, Nonsyndromic cleft lip with or without cleft palate 94,203,995(-) C/G splice_acceptor_variant
rs1114167281 pathogenic, Nonsyndromic cleft lip with or without cleft palate 94,189,317(-) G/T coding_sequence_variant, stop_gained
rs1114167282 pathogenic, Nonsyndromic cleft lip with or without cleft palate 94,184,871(-) C/T splice_donor_variant
VAR_038552 A breast cancer sample p.Ser552Cys
rs863225063 uncertain-significance, not provided 94,202,711(-) T/A/G coding_sequence_variant, missense_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for ARHGAP29 Gene

Variant ID Type Subtype PubMed ID
esv3586835 CNV loss 21293372
nsv1888 CNV insertion 18451855
nsv506947 OTHER sequence alteration 20534489

Variation tolerance for ARHGAP29 Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.41; 42.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARHGAP29 Gene

Human Gene Mutation Database (HGMD)
ARHGAP29
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARHGAP29

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP29 Gene

Disorders for ARHGAP29 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ARHGAP29 Gene - From: HGMD, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cleft lip with or without cleft palate
  • tessier cleft number 1,2
cleft lip
  • cheiloschisis
cleft lip/palate
  • alveolar cleft lip and palate
adhesions of uterus
  • band of uterus
cleft palate, isolated
  • cpi
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ARHGAP29

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ARHGAP29: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGAP29 Gene

Publications for ARHGAP29 Gene

  1. PARG1, a protein-tyrosine phosphatase-associated RhoGAP, as a putative Rap2 effector. (PMID: 15752761) Myagmar BE … Kariya K (Biochemical and biophysical research communications 2005) 3 4 23 56
  2. A novel GTPase-activating protein for Rho interacts with a PDZ domain of the protein-tyrosine phosphatase PTPL1. (PMID: 9305890) Saras J … Heldin CH (The Journal of biological chemistry 1997) 2 3 4 56
  3. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 43 56
  4. Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle-cell lymphomas. (PMID: 17488656) Ripperger T … Steinemann D (Haematologica 2007) 3 4 56
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 56

Products for ARHGAP29 Gene

Sources for ARHGAP29 Gene