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FLASH GENE
Symbol COL23A1 contributors: mct - updated : 05-09-2016
HGNC name collagen, type XXIII, alpha 1
HGNC id 22990
Location 5q35.3      Physical location : 177.664.616 - 178.017.556
Synonym symbol(s) DKFZp434K0621
DNA
TYPE functioning gene
STRUCTURE 352.94 kb     29 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
29 - 3080 - 540 - 2003 12644459
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain     Homo sapiens
Respiratorylung     Homo sapiens
Skin/Tegumentskin     Homo sapiens
Urinarykidney     Homo sapiens
Visualeyeanterior segmentcornea   Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivedensetendon   Homo sapiens
Epithelialbarrier liningepidermis   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Skin/Tegumentkeratinocyte Homo sapiens
cell lineage
cell lines leukemia cell lines K562
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a long amino-terminal non collagenous domain (NC1)
  • a transmembrane region
  • three collagenous domains
  • a suitable basic motif KIRTAR
    • mono polymer homomer , dimer , trimer
    HOMOLOGY
    interspecies homolog to murine Col23a1
    intraspecies homolog to Col13
    homolog to Col25
    Homologene
    FAMILY collagen superfamily
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • type II orientated transmembrane collagen
  • either as full-length cell surface anchored molecules or as shed soluble ectodomains
  • localized in lipid rafts in the plasma membrane and ectodomain shedding is altered by a cholesterol-dependent mechanism
    • basic FUNCTION
  • regulation of transcription DNA dependent
  • potential role for collagen XXIII in mediating metastasis by facilitating cell-cell and cell-matrix adhesion as well as anchorage-independent cell growth
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms homotrimers consisting of a short intracellular domain, a single-pass transmembrane domain and three extracellular collagen domains interrupted by short noncollagenous sequences
    • INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • directly interacts with integrin ITGA2/ITGB1 and is sufficient to induce integrin ITGA2/ITGB1 -dependent attachment and spreading of keratinocytes
    • cell & other
    REGULATION
    Other cleaved by furin protease activity, leading to a soluble form of 60kDa that forms a homotrimer
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in metastatic prostate cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • biomarker for non-small cell lung cancer (NSCLC) (
    • Therapy target
    ANIMAL & CELL MODELS