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FLASH GENE
Symbol COL14A1 contributors: mct/npt - updated : 07-11-2016
HGNC name collagen, type XIV, alpha 1
HGNC id 2191
Corresponding disease
PPPK punctate palmoplantar keratoderma
Location 8q24.12      Physical location : 121.137.351 - 121.384.266
Synonym name undulin (fibronectin-tenascin-related)
Synonym symbol(s) UND, COL14
DNA
TYPE functioning gene
STRUCTURE 249.11 kb     48 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map see MYC MYC
RNA
TRANSCRIPTS type messenger
text one variant with unique C terminal domain
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
48 - 8020 193.4 1796 - 2012 22972947
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly Homo sapiensFetal
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text skin, tendon
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • fibril associated collagen with interrupted helices made of a putative N-terminal peptide signal
  • a fibronectin type III domain
  • a VWFA domain
  • seven fibornectin type III domains
  • a second VWFA domain
  • a several collagenous and non collagenous domains in the C-terminal region
  • HOMOLOGY
    intraspecies homolog to collagen type XIV
    homolog to COL9A
    homolog to COL12A1
    Homologene
    FAMILY
  • collagen family
  • fibril-associated collagens with interrupted helices (FACIT) family
  • CATEGORY adaptor , structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text extracellular matrix
    basic FUNCTION
  • involved in supramolecular organization of fibril bundles
  • may have a functional role in maintaining cell differentiation (Ruehl 2005)
  • may have a tissue-specific role in the structure-function relationship of connective tissues (Ansorge 2009)
  • with COL12A1, might well be able to serve different functions during human embryonic development although their structures are highly similar (Thierry 2004)
  • may be involved in basement membrane regulation providing specific molecular bridges between fibrils and other matrix components (Thierry 2004)
  • fibril-associated collagen with an interrupted triple helix, interacting with the fibril surface and implicated as a regulator of fibrillogenes (Ansorge 2009)
  • fibril-associated collagen with an interrupted triple helix (FACIT), regulating early stages of fibrillogenesis in connective tissues of high mechanical demand
  • role in the formation of the cardiac interstitium during embryonic development, suggesting the importance of the collagen network for myocardial cell survival, and function of the working myocardium after birth
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • COMP binds to COL12A1 and COL14A1 via their C-terminal collagenous domains, and three proteins codistribute in a characteristic narrow zone in the superficial papillary dermis of healthy human skin
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PPPK
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation in renal cell carcinoma (Morris 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Type XIV Collagen-deficient Mice Have Altered Biomechanical Properties of Skin (Ansorge 2009)
  • mice null for Collagen XIV are viable, however formation of the interstitial collagen network is defective in tendons and skin leading to reduced biomechanical function