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FLASH GENE
Symbol PCDH10 contributors: mct/npt/pgu - updated : 19-02-2010
HGNC name protocadherin 10
HGNC id 13404
Location 4q28.3      Physical location : 134.070.469 - 134.112.731
Synonym name ortholog of OL-pcdh
Synonym symbol(s) KIAA1400, OL-PCDH, PCDH19, MGC133344, DKFZp761O2023
DNA
TYPE functioning gene
STRUCTURE 42.26 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (TATA box)
cytosine-phosphate-guanine/HTF
Binding site   transcription factor
text structure
  • Sp1/Sp3 and CBF/NF-Y transcription factors play a crucial role in the basal expression of the human PCDH10
    • MAPPING cloned Y linked N status provisional
    Physical map
    KIAA1284 4q28.1 Homo sapiens KIAA1284 protein (KIAA1284), mRNA. DKFZP434N1235 4q28.2 hypothetical protein DKFZp434N1235 APG-1 4q28 heat shock protein (hsp110 family) STK18 MGC33302 4q28.2 hypothetical protein MGC33302 FLJ21106 4q28.2 hypothetical protein FLJ21106 FLJ10378 4q28.2 FLJ10378 protein PGRMC2 4q26 progesterone receptor membrane component 2 JADE1 4q26-q27 PHD protein Jade-1 FLJ30655 4q28.2 hypothetical protein FLJ30655 LOC132321 4q28.2 hypothetical protein LOC132321 LOC391697 4 similar to KIAA1511 protein LOC391698 4 similar to Eukaryotic translation elongation factor 1 gamma HCP14 4q28.2 cytochrome c, somatic pseudogene LOC391699 4 similar to alanyl trna synthetase PCDH10 4q28.3 protocadherin 10 LOC132430 4q28.3 similar to Polyadenylate-binding protein 4 (Poly(A)-binding protein 4) (PABP 4) (Inducible poly(A)-binding protein) (iPABP) (Activated-platelet protein-1) (APP-1) LOC345016 4q28.3 similar to Pescadillo homolog 1 LOC389223 4 similar to eukaryotic translation elongation factor 1 alpha 1-like 14 LOC391700 4 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) LOC152620 4q28.3 similar to telomeric repeat binding factor 1 isoform 2; Telomeric repeat binding factor 1; telomeric repeat binding protein 1 LOC391701 4 similar to ribosomal protein S23 SLC7A11 4q28-q32 solute carrier family 7, (cationic amino acid transporter, y+ system) member 11 LOC152594 4q28.3 similar to ART-4 protein CCRN4L 4q28.3 CCR4 carbon catabolite repression 4-like (S. cerevisiae) ELF2 4q28 E74-like factor 2 (ets domain transcription factor) LOC389224 4 hypothetical gene supported by AK097799
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 5384 110 1040 - 2000 10718198
    1 splicing 3935 99 896 brain 2000 10718198
    isoform with a unique cytoplasmic tail
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
    Respiratoryrespiratory tracttrachea  moderately
    Urinarykidney    
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal signal peptide
  • six extracellular cadherin domains
  • a transmembrane domain encoded by a large single exon
  • a C terminal cytoplasmic tail
    • conjugated GlycoP
    isoforms Precursor
    HOMOLOGY
    interspecies homolog to murine Pcdh10 protocadherin 10
    intraspecies homolog to cadherin
    Homologene
    FAMILY
  • cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins
  • protocadherin subfamily
    • CATEGORY adhesion , tumor suppressor , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane,junction
    text integral plasma membrane, localized at the synaptic junction
    basic FUNCTION
  • cadherin-related neuronal receptor, putatively involved in the specificity of neuronal connections
  • essential for both elongation of striatal axons and patterning of the putative guidance cues for thalamocortical projections
  • cadherin-related neuronal receptor thought to play a role in the establishment and function of specific cell-cell connections in the brain
    • CELLULAR PROCESS cell organization/biogenesis
    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 signal transduction
    cell-cell signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
    cell & other
  • cells cell homophiic interaction
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in nasopharyngeal, esophageal and multiple other carcinomas with frequent methylation
    tumoral       loss of function
    inactivation may be a critical event in cervical cancer progression
    Susceptibility to autism spectrum disorder
    Variant & Polymorphism
    Candidate gene PCDH10 methylation is frequently involved in lymphomagenesis and could serve as a tumour-specific biomarker
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveuterus
    potentially useful therapeutic target for cervical cancer
    ANIMAL & CELL MODELS