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FLASH GENE
Symbol GIPC1 contributors: mct - updated : 31-08-2020
HGNC name GIPC PDZ domain containing family, member 1
HGNC id 1226
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 1947 - 333 - 2016 26787837
isoform 1
8 - 1629 - 236 - 2016 26787837
isoform 2
8 - 1891 - 333 - 2016 26787837
isoform 1
7 - 1573 - 236 - 2016 26787837
isoform 2
7 - 1803 - 333 - 2016 26787837
isoform 1
6 - 1485 - 236 - 2016 26787837
isoform 2
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Endocrinepancreas   highly
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscularstriatumcardiac  
Muscularstriatumskeletal  
Nervouscentral   
cell lineage
cell lines breast cancer cell line MCF-7 and gastric cancer cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • multiple phosphorylation sites
  • GH1 and GH2 domains
  • a central PDZ (PSD95/disc large/ZO-1) domain interacting with RGS-GAIP, directly engaged the C-terminal sequence of APPL1
  • a C terminal acyl carrier protein (ACP) domain and MYO6 binding site
  • HOMOLOGY
    interspecies homolog to rattus Gipc1 (96.4pc)
    homolog to murine Gipc1 (96.4pc)
    Homologene
    FAMILY
  • GIPC family
  • CATEGORY regulatory , antigen , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    basic FUNCTION
  • potentially involved in the regulation of vesicular trafficking
  • regulating cell mobility
  • recruits RGS19 to attenuate dopamine D2 receptor signaling
  • might play key roles in carcinogenesis and embryogenesis through modulation of growth factor signaling and cell adhesion
  • required for both internalization of cell surface receptors and for coupling of MYO6 to uncoated endocytic vesicles
  • NMDA receptor-interacting protein, that associates with surface as well as internalized NMDA receptors when expressed in heterologous cells
  • may be preferentially associated with extrasynaptic NMDA receptors and may play a role in the organization and trafficking of this population of receptors
  • promotes SLC2A1 trafficking to the cell surface
  • scaffolding protein that regulates cell surface receptor expression and trafficking
  • involved in G protein-linked signaling
  • novel breast cancer-associated immunogenic antigen overexpressed in breast cancer
  • is involved in IGF1 signaling leading to ZNF143 expression through the regulation of ROS production, which may play a role for colon cancer tumorigenesis
  • broad role for GIPC1 in the development of both stereociliary bundles and cell polarization
  • novel role for GIPC1 as a master regulator of autophagy and the exocytotic pathways in cancer
  • regulates cellular trafficking pathways by modulating the secretion, biogenesis, and molecular composition of exosomes
  • plays a critical role in the trafficking and regulation of membrane receptor pathways
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    IGF1 signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with GAIP
  • interacting with IGF1 receptor
  • interacting with RGS19, via its C-terminal PDZ-binding motif
  • interacting with TGFBR3 (inducing increased expression of TGFB3)
  • interacting with APPL1 (GIPC1 and APPL1 play a role in NTRK1 function and suggest that a population of endosomes bearing a complex of APPL1, GIPC1, and activated NTRK1 may transmit NGF signals)
  • interacting with SLC2A1, ACTN1, KIF1B, MYO6, PLEKHG5, SDC4, SEMA4C, HTLV-I Tax
  • interaction between TGFBR3 and GIPC1
  • GIPC1, ACVR1, BMPR1A, and TGFBR1 are signaling components required for TGFBR3-mediated endothelial cell epithelial-mesenchymal transformation
  • GIPC1 is a critical component of endoglin function during developmental angiogenesis
  • is a new interactor for VANGL2, and MYO6-GIPC1 protein complex can regulate VANGL2 traffic in heterologous cells
  • MYO6 functions in endocytosis in conjunction with binding partners including adaptor protein (TFAP2A, DAB2, and GIPC1)
  • VEGFA induced interactions between NRP1 and GIPC1, a scaffold protein, and complex formation between GIPC1 and PLEKHG5, a RhoGEF
  • interaction with PLXND1, through a sorting motif that interacts with the adaptor protein GIPC1 to facilitate transport to recycling endosomes
  • GIPC1-mediated endocytic trafficking regulates PLXND1 signaling
  • promotes fibrogenesis by regulating PDGFR isoforms through distinct mechanisms
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OPDM2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    overexpressed in breast and ovarian cancer ,
    tumoral     --low  
    in gastric, colorectal cancer, primary kidney and prostate tumors
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Gipc1 mutant mice show specific defects in axonal projections, as well as vascular structures, that rely on Plexin-D1 signalling for their development