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FLASH GENE
Symbol ARHGAP29 contributors: mct - updated : 16-07-2018
HGNC name Rho GTPase activating protein 29
HGNC id 30207
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
Lymphoid/Immunespleen    
Nervousnerve   highly
Skin/Tegumentskin     Homo sapiens
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningepidermis   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a GTPase activating protein (GAP) domain
  • a cysteine-rich, putative Zn2+
  • diacylglycerol binding domain
  • ZK669.1a and PARG1 homology (ZPH) region
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • Rho GTPase activator activity
  • in association with PTPN13, may function as a negative regulator of Rho signaling, acting on Rho itself and on tyrosine phosphorylated components in the Rho signaling transduction pathway
  • is a putative specific effector of RAP2 to regulate RHO
  • ARHGAP29 is a regulatory protein essential for proper development of the face
  • is required for embryonic survival and heterozygosity for loss-of-function (LoF) variants of ARHGAP29 increases the incidence and length of oral adhesions at a critical time point during orofacial development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • RASIP1-ARHGAP29 pathway also functions in RAP1A-mediated regulation of endothelial junctions, which controls endothelial barrier function
  • a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, other,
  • ion Zn2+ binding
  • diacylglycerol binding
  • protein
  • the four most C-terminal amino acid residue interacts specifically with the fourth PDZ domain of PTNP13
  • RASIP1 mediates RAP1A1-induced cell spreading through its interaction partner Rho GTPase-activating protein 29 (ARHGAP29), a GTPase activating protein for RHO proteins
  • RAP1A effectors RADIL and RASIP1, together with the RHO GTPase activating protein ARHGAP29, mediate RAP1A-induced inhibition of RHO signaling in the processes of epithelial cell spreading and endothelial barrier function
  • RASIP1 suppresses actomyosin contractility via inhibition of RHOA by ARHGAP29, allowing controlled expansion of vessel lumens during embryonic growth
  • critical role of the AFDN-ARHGAP29 axis for the regulation of RHO-associated kinase activity during vascular endothelial growth factor-induced network formation and migration of HUVECs
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    associated with an increased risk for Nonsyndromic cleft lip and/or palate (NSCL/P)
    tumoral     --over  
    is correlated with shortened survival of gastric cancer patients
    Susceptibility to non-syndromic cleft lip with or without cleft palate
    Variant & Polymorphism other
  • common non-coding variants at 1p22 that are functional for non-syndromic orofacial clefting
  • Candidate gene
  • is a strong candidate tumor suppressor gene in Mantle cell lymphoma (MCL)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS