Collagen, type XVIII, alpha 1

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Collagen, type XVIII, alpha 1
Protein COL18A1 PDB 1bnl.png
PDB rendering based on 1bnl.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols COL18A1 ; KNO; KNO1; KS
External IDs OMIM120328 MGI88451 HomoloGene7673 GeneCards: COL18A1 Gene
RNA expression pattern
PBB GE COL18A1 209082 s at tn.png
PBB GE COL18A1 209081 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 80781 12822
Ensembl ENSG00000182871 ENSMUSG00000001435
UniProt P39060 P39061
RefSeq (mRNA) NM_030582 NM_001109991
RefSeq (protein) NP_085059 NP_001103461
Location (UCSC) Chr 21:
46.83 – 46.93 Mb
Chr 10:
77.05 – 77.17 Mb
PubMed search [1] [2]

Collagen alpha-1(XVIII) chain is a protein that in humans is encoded by the COL18A1 gene.[1]

This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Two transcript variants encoding different isoforms have been found for this gene.[2]

See also[edit]

Collagen

References[edit]

  1. ^ Oh SP, Warman ML, Seldin MF, Cheng SD, Knoll JH, Timmons S, Olsen BR (Jun 1994). "Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21". Genomics 19 (3): 494–9. doi:10.1006/geno.1994.1098. PMID 8188291. 
  2. ^ "Entrez Gene: COL18A1 collagen, type XVIII, alpha 1". 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.