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FLASH GENE
Symbol PCDHGB1 contributors: npt - updated : 16/10/2008
HGNC name protocadherin gamma subfamily B, 1
HGNC id 8708
Location 5q31.3      Physical location : 140.729.827 - 140.892.546
Synonym name
  • protocadherin, cadherin related neuronal receptor, gamma B1, in the gamma cluster
  • protocadherin gamma subfamily B, 1, isoform 2
  • Synonym symbol(s) PCDHVGB1, PCDH-GAMMA-B1, MGC119466, MGC119467, MGC119469
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster
    text component of PCDHG@, subfamily B
    STRUCTURE 162.72 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • the first large exon corresponding to the variable region B1 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 Y status provisional
    Map cen - PCDHGA1 - PCDHGA2 - PCDHGA3 - PCDHGB1 - PCDHGA4 - PCDHGB2 - PCDHGA5 - PCDHGB3 - PCDHGA6 - PCDHGA7 - PCDHGB4 - PCDHGA8 - PCDHGB5 - PCDHGA9 - PCDHGB6 - PCDHGA10 - PCDHGB7 - PCDHGA11 - PCDHGA12 - PCDHGC3 - PCDHGC4 - PCDHGC5 - qter
    Authors Wu (01)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 4590 101.2 927 - Wu
    variable region B1and constant region of gamma cluster
    - - 2433 88 810 - Wu
    terminating downstream intron 1, putatively secreted
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide
  • six extracellular cadherin repeats
  • a transmembrane segment encoded by a unique exon
  • a cytoplasmic tail identical for each protein in the cluster
  • conjugated GlycoP
    HOMOLOGY
    interspecies homolog to murine Pcdhgb1 protocadherin gamma subfamily B,1
    intraspecies homolog to cadherin
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
  • protocadherin subfamily
  • CATEGORY adhesion , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    text integral membrane protein type I, 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 interactions critical in the development of the central nervous system, mediating adhesion in synaptic junctions through lack-in process
    PATHWAY
    metabolism
    signaling neurotransmission
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • cytoplasmic domain putatively connecting to intermediate filaments
  • cell & other
  • cells expressing the same protocadherin
  • REGULATION
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS