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]

  • Alvarez-Hernandez D, Naves M, Diaz-Lopez JB, Gomez C, Santamaria I, Cannata-Andia JB (2003). "Influence of polymorphisms in VDR and COLIA1 genes on the risk of osteoporotic fractures in aged men". Kidney Int Suppl 63 (85): S14–8. doi:10.1046/j.1523-1755.63.s85.5.x. PMID 12753258. 
  • Bou-Gharios G, Ponticos M, Rajkumar V, Abraham D (2004). "Extra-cellular matrix in vascular networks". Cell Prolif 37 (3): 207–20. doi:10.1111/j.1365-2184.2004.00306.x. PMID 15144498. 
  • Chamberlain JR, Schwarze U, Wang PR, Hirata RK, Hankenson KD, Pace JM, Underwood RA, Song KM, Sussman M, Byers PH, Russell DW (2004). "Gene targeting in stem cells from individuals with osteogenesis imperfecta". Science 303 (5661): 1198–201. doi:10.1126/science.1088757. PMID 14976317. 
  • Forlino A, Marini JC (2000). "Osteogenesis imperfecta: prospects for molecular therapeutics". Mol Genet Metab 71 (1-2): 225–32. doi:10.1006/mgme.2000.3039. PMID 11001814. 
  • Karsenty G, Park RW (1995). "Regulation of type I collagen genes expression". Int Rev Immunol 12 (2-4): 177–85. doi:10.3109/08830189509056711. PMID 7650420. 
  • Grant SF, Reid DM, Blake G, Herd R, Fogelman I, Ralston SH (1996). "Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene". Nat Genetics 14: 203–05. PMID 8841196. 
  • Keen RW, Woodford-Richens KL, Grant SF, Ralston SH, Lanchbury JS, Spector TD (1999). "Association of polymorphism at the type I collagen (COL1A1) locus with reduced bone mineral density, increased fracture risk, and increased collagen turnover". Arthritis Rheum 42 (2): 285–90. doi:10.1002/1529-0131(199902)42:2<285::AID-ANR10>3.0.CO;2-3. PMID 10025922. 
  • Kocher MS, Shapiro F (1998). "Osteogenesis imperfecta". J Am Acad Orthop Surg 6 (4): 225–36. PMID 9682085. 
  • Mann V, Ralston SH (2003). "Meta-analysis of COL1A1 Sp1 polymorphism in relation to bone mineral density and osteoporotic fracture". Bone 32 (6): 711–7. doi:10.1016/S8756-3282(03)00087-5. PMID 12810179. 
  • Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A (2000). "Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen". Am J Hum Genet 66 (4): 1398–402. doi:10.1086/302859. PMC 1288203. PMID 10739762. 
  • Persikov AV, Pillitteri RJ, Amin P, Schwarze U, Byers PH, Brodsky B (2004). "Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders". Hum Mutat 24 (4): 330–7. doi:10.1002/humu.20091. PMID 15365990. 
  • Ralston SH (2002). "Genetic control of susceptibility to osteoporosis". J Clin Endocrinol Metab 87 (6): 2460–6. doi:10.1210/jc.87.6.2460. PMID 12050200. 
  • Byers PH, Wallis GA, Willing MC (1991). "Osteogenesis imperfecta: translation of mutation to phenotype.". J. Med. Genet. 28 (7): 433–42. doi:10.1136/jmg.28.7.433. PMC 1016951. PMID 1895312. 
  • Kuivaniemi H, Tromp G, Prockop DJ (1991). "Mutations in collagen genes: causes of rare and some common diseases in humans.". FASEB J. 5 (7): 2052–60. PMID 2010058. 
  • Kuivaniemi H, Tromp G, Prockop DJ (1997). "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.". Hum. Mutat. 9 (4): 300–15. doi:10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. PMID 9101290. 
  • Rossert J, Terraz C, Dupont S (2001). "Regulation of type I collagen genes expression.". Nephrol. Dial. Transplant. 15 Suppl 6: 66–8. PMID 11143996. 

External links[edit]