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FLASH GENE
Symbol COL13A1 contributors: mct - updated : 11-01-2016
HGNC name collagen, type XIII, alpha 1
HGNC id 2190
Corresponding disease
CMS19 congenital myasthenic syndrome, 19
Location 10q22.1      Physical location : 71.561.643 - 71.718.903
DNA
TYPE functioning gene
STRUCTURE 157.29 kb     39 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map cen - COL13A1 - P4HA1 - qter
Authors Horelli-Kuitunen (97)
Physical map
DDX50 10q22.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 DDX21 10q21 DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 KIAA1279 10q22.1 KIAA1279 LOC389976 10 similar to actin 3 - fruit fly (Drosophila melanogaster) (fragments) PRG1 10q22.1 proteoglycan 1, secretory granule VPS26 10q21.1 vacuolar protein sorting 26 (yeast) SUPV3L1 10q22.1 suppressor of var1, 3-like 1 (S. cerevisiae) FLJ22761 10q22.1 hypothetical protein FLJ22761 HK1 10q22 hexokinase 1 TACR2 10q22.1 tachykinin receptor 2 NET-7 10q22.1 transmembrane 4 superfamily member tetraspan NET-7 NEUROG3 10q21.3 neurogenin 3 C10orf35 10q22.2 chromosome 10 open reading frame 35 LOC389977 10 similar to ribosomal protein L5; 60S ribosomal protein L5 COL13A1 10q21.2-q22.1 collagen, type XIII, alpha 1 LOC387686 10 LOC387686 H2AFY2 10q22.3 H2A histone family, member Y2 AMID 10q22.2 apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of death MGC34695 10q22.2 hypothetical protein MGC34695 SARA1 10q22.2 SAR1a gene homolog 1 (S. cerevisiae) CALM2P2 10q22.2 calmodulin 2 pseudogene 2 PP 10q22.1-q22.2 pyrophosphatase (inorganic) OT7T022 10q21-q22 neuropeptide FF 1; RFamide-related peptide receptor FLJ10751 10q22.2 hypothetical protein FLJ10751 LOC221017 10q22.2 similar to chromosome 6 open reading frame 182 EIF4EBP2 10q21-q22 eukaryotic translation initiation factor 4E binding protein 2 NODAL 10q21.1-q22.2 nodal homolog (mouse) KIAA1274 10q22.1 nodal homolog (mouse) PRF1 10q22.2 perforin 1 (pore forming protein) ADAMTS14 10q21.3 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
40 - 3148 - 717 - 2003 12832406
- - 3100 - 705 - 2003 12832406
- - 3085 - 700 - 2003 12832406
- - 3079 - 698 - 2003 12832406
38 - 3071 - 695 - 2003 12832406
- - 3091 - 702 - 2003 12832406
- - 3094 - 703 - 2003 12832406
- - 3100 - 705 - 2003 12832406
- - 3049 - 688 - 2003 12832406
- - 3013 - 676 - 2003 12832406
38 - 3044 - 686 - 2003 12832406
- - 3058 - 691 - 2003 12832406
- - 3055 - 690 - 2003 12832406
- - 2977 - 664 - 2003 12832406
37 - 2990 - 668 - 2003 12832406
- - 2965 - 660 - 2003 12832406
- - 2956 - 657 - 2003 12832406
- - 2950 - 655 - 2003 12832406
34 - 2815 - 610 - 2003 12832406
35 - 2921 - 645 - 2003 12832406
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemovary   
 male systemprostate   
Respiratorylung    
Skin/Tegumentskin    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connective    
Connectivebone   
Muscularstriatumskeletal   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
 chondrocyte
 fibroblast
Skeletonosteoblast
Skeletonosteoblast
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
a transmembrane segment (TM1)
conjugated GlycoP
mono polymer homomer , trimer
HOMOLOGY
Homologene
FAMILY type IV collagen family
CATEGORY structural protein
SUBCELLULAR LOCALIZATION extracellular
    plasma membrane
    intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum
text
  • localized to the human muscle motor endplate
  • basic FUNCTION
  • involved in maintenance of connective tissues
  • likely has an important role in bone modeling, and in particular, it may have a function in coupling the regulation of bone mass to mechanical use
  • nonfibrillar transmembrane collagen
  • is a novel muscle-derived cue necessary for the maturation and function of the vertebrate NMJ
  • crucial role of COL13A1 in the formation and maintenance of the neuromuscular junction (NMJ)
  • essential role in the organization of terminal Schwann cells and NMJ formation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component trimers of two alpha 1(IV) and one alpha 2(IV) chain
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacting by its ectodomain with fibronectin,heparin,nidogen2 and perlecan
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS19
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • electrophysiological recordings from the Col13a1-/- mice indicated impaired presynaptic function