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FLASH GENE
Symbol ARHGAP29 contributors: mct - updated : 16-07-2018
HGNC name Rho GTPase activating protein 29
HGNC id 30207
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