Collagen, type XVIII, alpha 1

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COL18A1
Protein COL18A1 PDB 1bnl.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCOL18A1, KNO, KNO1, KS, Collagen, type XVIII, alpha 1, collagen type XVIII alpha 1, collagen type XVIII alpha 1 chain
External IDsMGI: 88451 HomoloGene: 7673 GeneCards: COL18A1
Gene location (Human)
Chromosome 21 (human)
Chr.Chromosome 21 (human)[1]
Chromosome 21 (human)
Genomic location for COL18A1
Genomic location for COL18A1
Band21q22.3Start45,405,137 bp[1]
End45,513,720 bp[1]
RNA expression pattern
PBB GE COL18A1 209081 s at fs.png

PBB GE COL18A1 209082 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_130445
NM_030582
NM_130444

NM_001109991
NM_009929

RefSeq (protein)

NP_085059
NP_569711
NP_569712

NP_001103461
NP_034059

Location (UCSC)Chr 21: 45.41 – 45.51 MbChr 10: 77.05 – 77.17 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Collagen alpha-1(XVIII) chain is a protein that in humans is encoded by the COL18A1 gene.[5]

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.[6]

See also[edit]

Collagen

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182871 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000001435 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ "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.