Collagen, type XII, alpha 1

Collagen, type XII, alpha 1
Collagen, type XII, alpha 1
Identifiers
Symbols COL12A1; BA209D8.1; COL12A1L; DJ234P15.1
External IDs OMIM120320 MGI88448 HomoloGene3217 GeneCards: COL12A1 Gene
Orthologs
Species Human Mouse
Entrez 1303 12816
Ensembl ENSG00000111799 ENSMUSG00000032332
UniProt Q99715 Q3TNZ7
RefSeq (mRNA) NM_004370.5 NM_007730.2
RefSeq (protein) NP_004361.3 NP_031756.2
Location (UCSC) Chr 6:
75.79 – 75.92 Mb
Chr 9:
79.45 – 79.57 Mb
PubMed search [1] [2]

Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.[1][2]

This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified.[2]

References

  1. ^ Gerecke DR, Olson PF, Koch M, Knoll JH, Taylor R, Hudson DL, Champliaud MF, Olsen BR, Burgeson RE (Jul 1997). "Complete primary structure of two splice variants of collagen XII, and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13". Genomics 41 (2): 236–42. doi:10.1006/geno.1997.4638. PMID 9143499. 
  2. ^ a b "Entrez Gene: COL12A1 collagen, type XII, alpha 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1303. 

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