Collagen, type I, alpha 1

From Wikipedia, the free encyclopedia - View original article

Collagen, type I, alpha 1

PDB rendering based on 1y0f.
Available structures
PDBOrtholog search: PDBe, RCSB
Identifiers
SymbolsCOL1A1 ; OI4
External IDsOMIM120150 MGI88467 HomoloGene73874 ChEMBL: 3030 GeneCards: COL1A1 Gene
RNA expression pattern
PBB GE COL1A1 202310 s at tn.png
PBB GE COL1A1 202311 s at tn.png
PBB GE COL1A1 202312 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez127712842
EnsemblENSG00000108821ENSMUSG00000001506
UniProtP02452P11087
RefSeq (mRNA)NM_000088NM_007742
RefSeq (protein)NP_000079NP_031768
Location (UCSC)Chr 17:
48.26 – 48.28 Mb
Chr 11:
94.94 – 94.95 Mb
PubMed search[1][2]
 
Jump to: navigation, search
Collagen, type I, alpha 1

PDB rendering based on 1y0f.
Available structures
PDBOrtholog search: PDBe, RCSB
Identifiers
SymbolsCOL1A1 ; OI4
External IDsOMIM120150 MGI88467 HomoloGene73874 ChEMBL: 3030 GeneCards: COL1A1 Gene
RNA expression pattern
PBB GE COL1A1 202310 s at tn.png
PBB GE COL1A1 202311 s at tn.png
PBB GE COL1A1 202312 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez127712842
EnsemblENSG00000108821ENSMUSG00000001506
UniProtP02452P11087
RefSeq (mRNA)NM_000088NM_007742
RefSeq (protein)NP_000079NP_031768
Location (UCSC)Chr 17:
48.26 – 48.28 Mb
Chr 11:
94.94 – 94.95 Mb
PubMed search[1][2]

Collagen, type I, alpha 1, also known as alpha-1 type I collagen, is a protein that in humans is encoded by the COL1A1 gene. COL1A1 encodes the major component of type I collagen, the fibrillar collagen found in most connective tissues, including cartilage.

Function[edit]

Collagen is a protein that strengthens and supports many tissues in the body, including cartilage, bone, tendon, skin and the white part of the eye (sclera). The COL1A1 gene produces a component of type I collagen, called the pro-alpha1(I) chain. This chain combines with another pro-alpha1(I) chain and also with a pro-alpha2(I) chain (produced by the COL1A2 gene) to make a molecule of type I procollagen. These triple-stranded, rope-like procollagen molecules must be processed by enzymes outside the cell. Once these molecules are processed, they arrange themselves into long, thin fibrils that cross-link to one another in the spaces around cells. The cross-links result in the formation of very strong mature type I collagen fibers.

Gene[edit]

The COL1A1 gene is located on the long (q) arm of chromosome 17 between positions 21.3 and 22.1, from base pair 45,616,455 to base pair 45,633,991.

Clinical significance[edit]

Mutations in the COL1A1 gene are associated with the following conditions:

Further reading[edit]

External links[edit]