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FLASH GENE
Symbol PCDHAC1 contributors: npt - updated : 09/10/2008
HGNC name protocadherin alpha subfamily C, 1
HGNC id 8676
Location 5q31.3      Physical location : 140.306.301 - 140.391.929
Synonym name
  • protocadherin, cadherin related neuronal receptor, alpha C1 in the alpha cluster
    • Synonym symbol(s) PCDHVAC1, PCDH-ALPHA-C1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster
    text component of PCDHA@
    STRUCTURE 85.63 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • the first large exon corresponding to the variable region C1 of the alpha cluster encodes the N terminal extracellular and transmembrane domains
  • the three small last exons corresponding to the constant region of the alpha cluster encode the C terminal cytoplasmic domain (identical for each protein in the cluster)
    • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 5475 102 963 - Wu
    variable region C1 constant region of the alpha cluster
    - - 3084 86.7 818 - Wu
    terminating downstream intron 1, putatively secreted
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six extracellular cadherin repeats
  • a transmembrane segment
  • a cytoplasmic tail identical for each protein in the cluster
  • two PXXP motifs
  • a putative SH3 protein-binding site
    • conjugated GlycoP
    HOMOLOGY
    intraspecies homolog to cadherin
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
  • protocadherin family
    • CATEGORY adhesion , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    text integral membrane protein type 1, localized at the synaptic junction
    basic FUNCTION
  • cadherin-related neuronal receptor, putatively involved in the specificity of neuronal connections
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    text playing a putative role in cell-cell interaction critical in the development of the central nervous system
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • cytoplasmic domain putatively connecting to intermediate filaments
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS