Preferred Label : Collagen, type I, alpha-1;
Symbol : COL1A1;
CISMeF acronym : COL1A1;
Type : Gene and phenotype, combined;
Alternative titles and symbols : Collagen of skin, tendon, and bone, alpha-1 chain;
Included titles and symbols : Col1a1/pdgfb fusion gene; Oi/eds combined syndrome;
Description : Collagen has a triple-stranded rope-like coiled structure. The major collagen of skin,
tendon, and bone is the same protein containing 2 alpha-1 polypeptide chains and 1
alpha-2 chain. Although these are long (the procollagen chain has a molecular mass
of about 120 kD, before the 'registration peptide' is cleaved off; see 225410), each
messenger RNA is monocistronic (Lazarides and Lukens, 1971). Differences in the collagens
from these 3 tissues are a function of the degree of hydroxylation of proline and
lysine residues, aldehyde formation for cross-linking, and glycosylation. The alpha-1
chain of the collagen of cartilage and that of the collagen of basement membrane are
determined by different structural genes. The collagen of cartilage contains only
1 type of polypeptide chain, alpha-1, and this is determined by a distinct locus.
The fetus contains collagen of distinctive structure. The genes for types I, II, and
III collagens, the interstitial collagens, exhibit an unusual and characteristic structure
of a large number of relatively small exons (54 and 108 bp) at evolutionarily conserved
positions along the length of the triple helical gly-X-Y portion (Boedtker et al.,
1983). The family of collagen proteins consists of a minimum of 9 types of collagen
molecules whose constituent chains are encoded by a minimum of 17 genes (Ninomiya
and Olsen, 1984).;
Prefixed ID : 120150;
Origin ID : 120150;
UMLS CUI : C1332772;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- False automatic mappings
- NCIt concept(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
