Collagen alpha-1(I) chain

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• extracellular matrix structural constituent Source: RGDInferred from sequence orthologyⁱ
  • "Type V collagen controls the initiation of collagen fibril assembly."
    Wenstrup R.J., Florer J.B., Brunskill E.W., Bell S.M., Chervoneva I., Birk D.E.
    J. Biol. Chem. 279:53331-53337(2004) [PubMed] [Europe PMC] [Abstract]
• identical protein binding Source: RGDInferred from sequence orthologyⁱ
  • "Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood."
    Malfait F., Symoens S., De Backer J., Hermanns-Le T., Sakalihasan N., Lapiere C.M., Coucke P., De Paepe A.
    Hum. Mutat. 28:387-395(2007) [PubMed] [Europe PMC] [Abstract]
• metal ion binding Source: UniProtKB-KW
• platelet-derived growth factor binding Source: RGDInferred from sequence orthologyⁱ
  • "Type I, II, III, IV, V, and VI collagens serve as extracellular ligands for the isoforms of platelet-derived growth factor (AA, BB, and AB)."
    Somasundaram R., Schuppan D.
    J. Biol. Chem. 271:26884-26891(1996) [PubMed] [Europe PMC] [Abstract]
• protease binding Source: RGDInferred from sequence orthologyⁱ
  • "MMP-12 catalytic domain recognizes and cleaves at multiple sites in human skin collagen type I and type III."
    Taddese S., Jung M.C., Ihling C., Heinz A., Neubert R.H., Schmelzer C.E.
    Biochim. Biophys. Acta 1804:731-739(2010) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• blood vessel development Source: RGDInferred from sequence orthologyⁱ
  • "Mice with a deletion in the first intron of the Col1a1 gene develop age-dependent aortic dissection and rupture."
    Rahkonen O., Su M., Hakovirta H., Koskivirta I., Hormuzdi S.G., Vuorio E., Bornstein P., Penttinen R.
    Circ. Res. 94:83-90(2004) [PubMed] [Europe PMC] [Abstract]
  • "Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood."
    Malfait F., Symoens S., De Backer J., Hermanns-Le T., Sakalihasan N., Lapiere C.M., Coucke P., De Paepe A.
    Hum. Mutat. 28:387-395(2007) [PubMed] [Europe PMC] [Abstract]
• bone trabecula formation Source: RGDInferred from sequence orthologyⁱ
  • "Type I collagen is a genetic modifier of matrix metalloproteinase 2 in murine skeletal development."
    Egeblad M., Shen H.C., Behonick D.J., Wilmes L., Eichten A., Korets L.V., Kheradmand F., Werb Z., Coussens L.M.
    Dev. Dyn. 236:1683-1693(2007) [PubMed] [Europe PMC] [Abstract]
• cartilage development involved in endochondral bone morphogenesis Source: RGDInferred from sequence orthologyⁱ
  • "ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta."
    Lisse T.S., Thiele F., Fuchs H., Hans W., Przemeck G.K., Abe K., Rathkolb B., Quintanilla-Martinez L., Hoelzlwimmer G., Helfrich M., Wolf E., Ralston S.H., Hrabe de Angelis M.
    PLoS Genet. 4:e7-e7(2008) [PubMed] [Europe PMC] [Abstract]
• cellular response to amino acid stimulus Source: RGDInferred from sequence orthologyⁱ
  • "Difference in expression of hepatic microRNAs miR-29c, miR-34a, miR-155, and miR-200b is associated with strain-specific susceptibility to dietary nonalcoholic steatohepatitis in mice."
    Pogribny I.P., Starlard-Davenport A., Tryndyak V.P., Han T., Ross S.A., Rusyn I., Beland F.A.
    Lab. Invest. 90:1437-1446(2010) [PubMed] [Europe PMC] [Abstract]
• cellular response to epidermal growth factor stimulus Source: RGD <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • "Extracellular matrix biosynthesis by cultured fetal rat lung epithelial cells. III. Effects of chronic exposure to epidermal growth factor on growth, differentiation, and collagen biosynthesis."
    Federspiel S.J., DiMari S.J., Howe A.M., Guerry-Force M.L., Haralson M.A.
    Lab. Invest. 64:463-473(1991) [PubMed] [Europe PMC] [Abstract]
• cellular response to fibroblast growth factor stimulus Source: RGDInferred from expression patternⁱ
  • "Sulfated glycosaminoglycans mediate the effects of FGF2 on the osteogenic potential of rat calvarial osteoprogenitor cells."
    Ling L., Murali S., Dombrowski C., Haupt L.M., Stein G.S., van Wijnen A.J., Nurcombe V., Cool S.M.
    J. Cell. Physiol. 209:811-825(2006) [PubMed] [Europe PMC] [Abstract]
• cellular response to fluoride Source: RGDInferred from expression patternⁱ
  • "Fluoride induces apoptosis and alters collagen I expression in rat osteoblasts."
    Yan X., Yan X., Morrison A., Han T., Chen Q., Li J., Wang J.
    Toxicol. Lett. 200:133-138(2011) [PubMed] [Europe PMC] [Abstract]
• cellular response to mechanical stimulus Source: RGDInferred from expression patternⁱ
  • "Uniaxial mechanical tension promoted osteogenic differentiation of rat tendon-derived stem cells (rTDSCs) via the Wnt5a-RhoA pathway."
    Shi Y., Fu Y., Tong W., Geng Y., Lui P.P., Tang T., Zhang X., Dai K.
    J. Cell. Biochem. 113:3133-3142(2012) [PubMed] [Europe PMC] [Abstract]
• cellular response to retinoic acid Source: RGDInferred from expression patternⁱ
  • "Extracellular matrix biosynthesis by cultured fetal rat lung epithelial cells. IV. Effects of chronic exposure to retinoic acid on growth, differentiation, and collagen biosynthesis."
    Federspiel S.J., DiMari S.J., Howe A.M., Guerry-Force M.L., Haralson M.A.
    Lab. Invest. 65:441-450(1991) [PubMed] [Europe PMC] [Abstract]
  • "All-trans retinoic acid diminishes collagen production in a hepatic stellate cell line via suppression of active protein-1 and c-Jun N-terminal kinase signal."
    Ye Y., Dan Z.
    J. Huazhong Univ. Sci. Technol. Med. Sci. 30:726-733(2010) [PubMed] [Europe PMC] [Abstract]
• cellular response to transforming growth factor beta stimulus Source: UniProtKBInferred from expression patternⁱ
  • "The basic helix-loop-helix transcription factor scleraxis regulates fibroblast collagen synthesis."
    Espira L., Lamoureux L., Jones S.C., Gerard R.D., Dixon I.M., Czubryt M.P.
    J. Mol. Cell. Cardiol. 47:188-195(2009) [PubMed] [Europe PMC] [Abstract]
• cellular response to tumor necrosis factor Source: RGDInferred from expression patternⁱ
  • "Glutathione depletion is involved in the inhibition of procollagen alpha1(I) mRNA levels caused by TNF-alpha on hepatic stellate cells."
    Varela-Rey M., Fontan-Gabas L., Blanco P., Lopez-Zabalza M.J., Iraburu M.J.
    Cytokine 37:212-217(2007) [PubMed] [Europe PMC] [Abstract]
• cellular response to vitamin E Source: RGDInferred from expression patternⁱ
  • "Vitamin E protects chondrocytes against hydrogen peroxide-induced oxidative stress in vitro."
    Bhatti F.U., Mehmood A., Wajid N., Rauf M., Khan S.N., Riazuddin S.
    Inflamm. Res. 62:781-789(2013) [PubMed] [Europe PMC] [Abstract]
• collagen-activated tyrosine kinase receptor signaling pathway Source: MGI <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "Discoidin domain receptor 1 functions in axon extension of cerebellar granule neurons."
    Bhatt R.S., Tomoda T., Fang Y., Hatten M.E.
    Genes Dev. 14:2216-2228(2000) [PubMed] [Europe PMC] [Abstract]
• collagen biosynthetic process Source: RGDInferred from sequence orthologyⁱ
  • "Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome."
    Wenstrup R.J., Florer J.B., Cole W.G., Willing M.C., Birk D.E.
    J. Cell. Biochem. 92:113-124(2004) [PubMed] [Europe PMC] [Abstract]
• collagen fibril organization Source: RGDInferred from sequence orthologyⁱ
  • "Gene targeting in stem cells from individuals with osteogenesis imperfecta."
    Chamberlain J.R., Schwarze U., Wang P.R., Hirata R.K., Hankenson K.D., Pace J.M., Underwood R.A., Song K.M., Sussman M., Byers P.H., Russell D.W.
    Science 303:1198-1201(2004) [PubMed] [Europe PMC] [Abstract]
  • "Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome."
    Wenstrup R.J., Florer J.B., Cole W.G., Willing M.C., Birk D.E.
    J. Cell. Biochem. 92:113-124(2004) [PubMed] [Europe PMC] [Abstract]
  • "Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood."
    Malfait F., Symoens S., De Backer J., Hermanns-Le T., Sakalihasan N., Lapiere C.M., Coucke P., De Paepe A.
    Hum. Mutat. 28:387-395(2007) [PubMed] [Europe PMC] [Abstract]
  • "Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta."
    Pace J.M., Wiese M., Drenguis A.S., Kuznetsova N., Leikin S., Schwarze U., Chen D., Mooney S.H., Unger S., Byers P.H.
    J. Biol. Chem. 283:16061-16067(2008) [PubMed] [Europe PMC] [Abstract]
• embryonic skeletal system development Source: RGDInferred from sequence orthologyⁱ
  • "Prenatal cortical hyperostosis with COL1A1 gene mutation."
    Kamoun-Goldrat A., Martinovic J., Saada J., Sonigo-Cohen P., Razavi F., Munnich A., Le Merrer M.
    Am. J. Med. Genet. A 146A:1820-1824(2008) [PubMed] [Europe PMC] [Abstract]
• endochondral ossification Source: RGDInferred from sequence orthologyⁱ
  • "Restricted expression of Mov13 mutant alpha 1(I) collagen gene in osteoblasts and its consequences for bone development."
    Kratochwil K., Ghaffari-Tabrizi N., Holzinger I., Harbers K.
    Dev. Dyn. 198:273-283(1993) [PubMed] [Europe PMC] [Abstract]
• extracellular matrix organization Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• face morphogenesis Source: RGDInferred from sequence orthologyⁱ
  • "Type I collagen is a genetic modifier of matrix metalloproteinase 2 in murine skeletal development."
    Egeblad M., Shen H.C., Behonick D.J., Wilmes L., Eichten A., Korets L.V., Kheradmand F., Werb Z., Coussens L.M.
    Dev. Dyn. 236:1683-1693(2007) [PubMed] [Europe PMC] [Abstract]
• intramembranous ossification Source: RGDInferred from sequence orthologyⁱ
  • "Type I collagen is a genetic modifier of matrix metalloproteinase 2 in murine skeletal development."
    Egeblad M., Shen H.C., Behonick D.J., Wilmes L., Eichten A., Korets L.V., Kheradmand F., Werb Z., Coussens L.M.
    Dev. Dyn. 236:1683-1693(2007) [PubMed] [Europe PMC] [Abstract]
• negative regulation of cell-substrate adhesion Source: RGDInferred from sequence orthologyⁱ
  • "The NH2-terminal propeptide of type I procollagen acts intracellularly to modulate cell function."
    Oganesian A., Au S., Horst J.A., Holzhausen L.C., Macy A.J., Pace J.M., Bornstein P.
    J. Biol. Chem. 281:38507-38518(2006) [PubMed] [Europe PMC] [Abstract]
• ossification Source: RGDInferred from expression patternⁱ
  • "Gene expression for extracellular matrix proteins in shockwave-induced osteogenesis in rats."
    Takahashi K., Yamazaki M., Saisu T., Nakajima A., Shimizu S., Mitsuhashi S., Moriya H.
    Calcif. Tissue Int. 74:187-193(2004) [PubMed] [Europe PMC] [Abstract]
• osteoblast differentiation Source: RGDInferred from sequence orthologyⁱ
  • "Regulation of insulin-like growth factor binding protein-5, four and a half lim-2, and a disintegrin and metalloprotease-9 expression in osteoblasts."
    Govoni K.E., Amaar Y.G., Kramer A., Winter E., Baylink D.J., Mohan S.
    Growth Horm. IGF Res. 16:49-56(2006) [PubMed] [Europe PMC] [Abstract]
• positive regulation of canonical Wnt signaling pathway Source: RGDInferred from sequence orthologyⁱ
  • "Type I collagen promotes epithelial-mesenchymal transition through ILK-dependent activation of NF-kappaB and LEF-1."
    Medici D., Nawshad A.
    Matrix Biol. 29:161-165(2010) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cell migration Source: RGDInferred from sequence orthologyⁱ
  • "Type I collagen promotes epithelial-mesenchymal transition through ILK-dependent activation of NF-kappaB and LEF-1."
    Medici D., Nawshad A.
    Matrix Biol. 29:161-165(2010) [PubMed] [Europe PMC] [Abstract]
• positive regulation of epithelial to mesenchymal transition Source: RGDInferred from sequence orthologyⁱ
  • "Type I collagen promotes epithelial-mesenchymal transition through ILK-dependent activation of NF-kappaB and LEF-1."
    Medici D., Nawshad A.
    Matrix Biol. 29:161-165(2010) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription, DNA-templated Source: RGDInferred from sequence orthologyⁱ
  • "Type I collagen promotes epithelial-mesenchymal transition through ILK-dependent activation of NF-kappaB and LEF-1."
    Medici D., Nawshad A.
    Matrix Biol. 29:161-165(2010) [PubMed] [Europe PMC] [Abstract]
• protein heterotrimerization Source: RGDInferred from sequence orthologyⁱ
  • "Effect of rhBMP-2 on the osteogenic potential of bone marrow stromal cells from an osteogenesis imperfecta mouse (oim)."
    Balk M.L., Bray J., Day C., Epperly M., Greenberger J., Evans C.H., Niyibizi C.
    Bone 21:7-15(1997) [PubMed] [Europe PMC] [Abstract]
• protein localization to nucleus Source: RGDInferred from sequence orthologyⁱ
  • "Type I collagen promotes epithelial-mesenchymal transition through ILK-dependent activation of NF-kappaB and LEF-1."
    Medici D., Nawshad A.
    Matrix Biol. 29:161-165(2010) [PubMed] [Europe PMC] [Abstract]
• protein transport Source: RGDInferred from sequence orthologyⁱ
  • "Type I collagen-deficient Mov-13 mice do not retain SPARC in the extracellular matrix: implications for fibroblast function."
    Iruela-Arispe M.L., Vernon R.B., Wu H., Jaenisch R., Sage E.H.
    Dev. Dyn. 207:171-183(1996) [PubMed] [Europe PMC] [Abstract]
• response to cAMP Source: RGDInferred from expression patternⁱ
  • "Parathyroid hormone inhibits collagen synthesis and the activity of rat col1a1 transgenes mainly by a cAMP-mediated pathway in mouse calvariae."
    Bogdanovic Z., Huang Y.F., Dodig M., Clark S.H., Lichtler A.C., Kream B.E.
    J. Cell. Biochem. 77:149-158(2000) [PubMed] [Europe PMC] [Abstract]
• response to corticosteroid Source: RGDInferred from expression patternⁱ
  • "Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy."
    Tsybouleva N., Zhang L., Chen S., Patel R., Lutucuta S., Nemoto S., DeFreitas G., Entman M., Carabello B.A., Roberts R., Marian A.J.
    Circulation 109:1284-1291(2004) [PubMed] [Europe PMC] [Abstract]
• response to drug Source: RGDInferred from expression patternⁱ
  • "Fibrosis-related gene expression in the prostate is modulated by doxazosin treatment."
    Delella F.K., Lacorte L.M., Almeida F.L., Pai M.D., Felisbino S.L.
    Life Sci. 91:1281-1287(2012) [PubMed] [Europe PMC] [Abstract]
• response to estradiol Source: RGDInferred from expression patternⁱ
  • "Regulation of alpha 2(I), alpha 1(III), and alpha 2(V) collagen mRNAs by estradiol in the immature rat uterus."
    Frankel F.R., Hsu C.-Y.J., Meyers J.C., Lin E., Lyttle C.R., Komm B., Mohn K.
    DNA 7:347-354(1988) [PubMed] [Europe PMC] [Abstract]
• response to fluoride Source: RGDInferred from expression patternⁱ
  • "[Evaluation of toxic doses of fluorine on expression of collagen genes and synthesis of some collagen proteins in rat skin]."
    Olszowski T.
    Ann Acad Med Stetin 49:45-62(2003) [PubMed] [Europe PMC] [Abstract]
• response to hydrogen peroxide Source: RGDInferred from expression patternⁱ
  • "Transforming growth factor beta1 induces the expression of alpha1(I) procollagen mRNA by a hydrogen peroxide-C/EBPbeta-dependent mechanism in rat hepatic stellate cells."
    Garcia-Trevijano E.R., Iraburu M.J., Fontana L., Dominguez-Rosales J.A., Auster A., Covarrubias-Pinedo A., Rojkind M.
    Hepatology 29:960-970(1999) [PubMed] [Europe PMC] [Abstract]
• response to hyperoxia Source: RGDInferred from expression patternⁱ
  • "Effects of different exposures of hyperbaric oxygen on ligament healing in rats."
    Ishii Y., Ushida T., Tateishi T., Shimojo H., Miyanaga Y.
    J. Orthop. Res. 20:353-356(2002) [PubMed] [Europe PMC] [Abstract]
• response to mechanical stimulus Source: RGDInferred from expression patternⁱ
  • "Activation of fibroblast procollagen alpha 1(I) transcription by mechanical strain is transforming growth factor-beta-dependent and involves increased binding of CCAAT-binding factor (CBF/NF-Y) at the proximal promoter."
    Lindahl G.E., Chambers R.C., Papakrivopoulou J., Dawson S.J., Jacobsen M.C., Bishop J.E., Laurent G.J.
    J. Biol. Chem. 277:6153-6161(2002) [PubMed] [Europe PMC] [Abstract]
  • "Effect of unloading followed by reloading on expression of collagen and related growth factors in rat tendon and muscle."
    Heinemeier K.M., Olesen J.L., Haddad F., Schjerling P., Baldwin K.M., Kjaer M.
    J. Appl. Physiol. 106:178-186(2009) [PubMed] [Europe PMC] [Abstract]
• response to nutrient Source: RGDInferred from expression patternⁱ
  • "Microarray analysis of retinoid-dependent gene activity during rat embryogenesis: increased collagen fibril production in a model of retinoid insufficiency."
    Flentke G.R., Baker M.W., Docterman K.E., Power S., Lough J., Smith S.M.
    Dev. Dyn. 229:886-898(2004) [PubMed] [Europe PMC] [Abstract]
• response to nutrient levels Source: RGDInferred from expression patternⁱ
  • "High-fat diet reduces levels of type I tropocollagen and hyaluronan in rat skin."
    Yamane T., Kobayashi-Hattori K., Oishi Y., Takita T.
    Mol Nutr Food Res 54 Suppl 1:S53-61(2010) [PubMed] [Europe PMC] [Abstract]
• response to peptide hormone Source: RGDInferred from expression patternⁱ
  • "Parathyroid hormone inhibits collagen synthesis and the activity of rat col1a1 transgenes mainly by a cAMP-mediated pathway in mouse calvariae."
    Bogdanovic Z., Huang Y.F., Dodig M., Clark S.H., Lichtler A.C., Kream B.E.
    J. Cell. Biochem. 77:149-158(2000) [PubMed] [Europe PMC] [Abstract]
• response to steroid hormone Source: RGDInferred from expression patternⁱ
  • "Gene expression in distinct regions of rat tendons in response to jump training combined with anabolic androgenic steroid administration."
    Marqueti R.C., Marqueti R.d.e. C., Heinemeier K.M., Durigan J.L., de Andrade Perez S.E., Schjerling P., Kjaer M., Carvalho H.F., Selistre-de-Araujo H.S.
    Eur. J. Appl. Physiol. 112:1505-1515(2012) [PubMed] [Europe PMC] [Abstract]
• sensory perception of sound Source: RGDInferred from sequence orthologyⁱ
  • "Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis."
    Chen W., Meyer N.C., McKenna M.J., Pfister M., McBride D.J. Jr., Fukushima K., Thys M., Camp G.V., Smith R.J.
    Clin. Genet. 71:406-414(2007) [PubMed] [Europe PMC] [Abstract]
• skeletal system development Source: RGDInferred from sequence orthologyⁱ
  • "Gene targeting in stem cells from individuals with osteogenesis imperfecta."
    Chamberlain J.R., Schwarze U., Wang P.R., Hirata R.K., Hankenson K.D., Pace J.M., Underwood R.A., Song K.M., Sussman M., Byers P.H., Russell D.W.
    Science 303:1198-1201(2004) [PubMed] [Europe PMC] [Abstract]
  • "Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix."
    Tsuneyoshi T., Westerhausen A., Constantinou C.D., Prockop D.J.
    J. Biol. Chem. 266:15608-15613(1991) [PubMed] [Europe PMC] [Abstract]
  • "Homology-mediated recombination between type I collagen gene exons results in an internal tandem duplication and lethal osteogenesis imperfecta."
    Cohn D.H., Zhang X., Byers P.H.
    Hum. Mutat. 2:21-27(1993) [PubMed] [Europe PMC] [Abstract]
  • "Phenotypic variability and incomplete penetrance of spontaneous fractures in an inbred strain of transgenic mice expressing a mutated collagen gene (COL1A1)."
    Pereira R., Halford K., Sokolov B.P., Khillan J.S., Prockop D.J.
    J. Clin. Invest. 93:1765-1769(1994) [PubMed] [Europe PMC] [Abstract]
• skeletal system morphogenesis Source: RGDInferred from sequence orthologyⁱ
  • "Type I collagen is a genetic modifier of matrix metalloproteinase 2 in murine skeletal development."
    Egeblad M., Shen H.C., Behonick D.J., Wilmes L., Eichten A., Korets L.V., Kheradmand F., Werb Z., Coussens L.M.
    Dev. Dyn. 236:1683-1693(2007) [PubMed] [Europe PMC] [Abstract]
• skin development Source: RGDInferred from sequence orthologyⁱ
  • "ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta."
    Lisse T.S., Thiele F., Fuchs H., Hans W., Przemeck G.K., Abe K., Rathkolb B., Quintanilla-Martinez L., Hoelzlwimmer G., Helfrich M., Wolf E., Ralston S.H., Hrabe de Angelis M.
    PLoS Genet. 4:e7-e7(2008) [PubMed] [Europe PMC] [Abstract]
• skin morphogenesis Source: RGDInferred from sequence orthologyⁱ
  • "Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood."
    Malfait F., Symoens S., De Backer J., Hermanns-Le T., Sakalihasan N., Lapiere C.M., Coucke P., De Paepe A.
    Hum. Mutat. 28:387-395(2007) [PubMed] [Europe PMC] [Abstract]
• tooth eruption Source: RGDInferred from expression patternⁱ
  • "Expression of MMP-8 and MMP-13 mRNAs in rat periodontium during tooth eruption."
    Tsubota M., Sasano Y., Takahashi I., Kagayama M., Shimauchi H.
    J. Dent. Res. 81:673-678(2002) [PubMed] [Europe PMC] [Abstract]
• tooth mineralization Source: RGDInferred from sequence orthologyⁱ
  • "Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders."
    De Coster P.J., Cornelissen M., De Paepe A., Martens L.C., Vral A.
    Arch. Oral Biol. 52:101-109(2007) [PubMed] [Europe PMC] [Abstract]
• visual perception Source: RGDInferred from sequence orthologyⁱ
  • "The COL1A1 gene and high myopia susceptibility in Japanese."
    Inamori Y., Ota M., Inoko H., Okada E., Nishizaki R., Shiota T., Mok J., Oka A., Ohno S., Mizuki N.
    Hum. Genet. 122:151-157(2007) [PubMed] [Europe PMC] [Abstract]
• wound healing Source: RGD <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "COL1A1 oligodeoxynucleotides decoy: biochemical and morphologic effects in an acute wound repair model."
    Rosensteel S.M., Wilson R.P., White S.L., Ehrlich H.P.
    Exp. Mol. Pathol. 89:307-313(2010) [PubMed] [Europe PMC] [Abstract]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Keywords - Cellular componentⁱ

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationⁱ

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• identical protein binding Source: RGDInferred from sequence orthologyⁱ
  • "Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood."
    Malfait F., Symoens S., De Backer J., Hermanns-Le T., Sakalihasan N., Lapiere C.M., Coucke P., De Paepe A.
    Hum. Mutat. 28:387-395(2007) [PubMed] [Europe PMC] [Abstract]
• platelet-derived growth factor binding Source: RGDInferred from sequence orthologyⁱ
  • "Type I, II, III, IV, V, and VI collagens serve as extracellular ligands for the isoforms of platelet-derived growth factor (AA, BB, and AB)."
    Somasundaram R., Schuppan D.
    J. Biol. Chem. 271:26884-26891(1996) [PubMed] [Europe PMC] [Abstract]
• protease binding Source: RGDInferred from sequence orthologyⁱ
  • "MMP-12 catalytic domain recognizes and cleaves at multiple sites in human skin collagen type I and type III."
    Taddese S., Jung M.C., Ihling C., Heinz A., Neubert R.H., Schmelzer C.E.
    Biochim. Biophys. Acta 1804:731-739(2010) [PubMed] [Europe PMC] [Abstract]

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Domains and Repeats

Region

Motif

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domainⁱ

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingⁱ: The displayed sequence is further processed into a mature form.

        10         20         30         40         50
MFSFVDLRLL LLLGATALLT HGQEDIPEVS CIHNGLRVPN GETWKPDVCL 
        60         70         80         90        100
ICICHNGTAV CDGVLCKEDL DCPNPQKREG ECCPFCPEEY VSPDAEVIGV 
       110        120        130        140        150
EGPKGDPGPQ GPRGPVGPPG QDGIPGQPGL PGPPGPPGPP GPPGLGGNFA 
       160        170        180        190        200
SQMSYGYDEK SAGVSVPGPM GPSGPRGLPG PPGAPGPQGF QGPPGEPGEP 
       210        220        230        240        250
GASGPMGPRG PPGPPGKNGD DGEAGKPGRP GERGPPGPQG ARGLPGTAGL 
       260        270        280        290        300
PGMKGHRGFS GLDGAKGDTG PAGPKGEPGS PGENGAPGQM GPRGLPGERG 
       310        320        330        340        350
RPGPPGSAGA RGNDGAVGAA GPPGPTGPTG PPGFPGAAGA KGEAGPQGAR 
       360        370        380        390        400
GSEGPQGVRG EPGPPGPAGA AGPAGNPGAD GQPGAKGANG APGIAGAPGF 
       410        420        430        440        450
PGARGPSGPQ GPSGAPGPKG NSGEPGAPGN KGDTGAKGEP GPAGVQGPPG 
       460        470        480        490        500
PAGEEGKRGA RGEPGPSGLP GPPGERGGPG SRGFPGADGV AGPKGPAGER 
       510        520        530        540        550
GSPGPAGPKG SPGEAGRPGE AGLPGAKGLT GSPGSPGPDG KTGPPGPAGQ 
       560        570        580        590        600
DGRPGPAGPP GARGQAGVMG FPGPKGTAGE PGKAGERGVP GPPGAVGPAG 
       610        620        630        640        650
KDGEAGAQGA PGPAGPAGER GEQGPAGSPG FQGLPGPAGP PGEAGKPGEQ 
       660        670        680        690        700
GVPGDLGAPG PSGARGERGF PGERGVQGPP GPAGPRGNNG APGNDGAKGD 
       710        720        730        740        750
TGAPGAPGSQ GAPGLQGMPG ERGAAGLPGP KGDRGDAGPK GADGSPGKDG 
       760        770        780        790        800
VRGLTGPIGP PGPAGAPGDK GETGPSGPAG PTGARGAPGD RGEPGPPGPA 
       810        820        830        840        850
GFAGPPGADG QPGAKGEPGD TGVKGDAGPP GPAGPAGPPG PIGNVGAPGP 
       860        870        880        890        900
KGSRGAAGPP GATGFPGAAG RVGPPGPSGN AGPPGPPGPV GKEGGKGPRG 
       910        920        930        940        950
ETGPAGRPGE VGPPGPPGPA GEKGSPGADG PAGSPGTPGP QGIAGQRGVV 
       960        970        980        990       1000
GLPGQRGERG FPGLPGPSGE PGKQGPSGAS GERGPPGPMG PPGLAGPPGE 
      1010       1020       1030       1040       1050
SGREGSPGAE GSPGRDGAPG AKGDRGETGP AGPPGAPGAP GAPGPVGPAG 
      1060       1070       1080       1090       1100
KNGDRGETGP AGPAGPIGPA GARGPAGPQG PRGDKGETGE QGDRGIKGHR 
      1110       1120       1130       1140       1150
GFSGLQGPPG SPGSPGEQGP SGASGPAGPR GPPGSAGSPG KDGLNGLPGP 
      1160       1170       1180       1190       1200
IGPPGPRGRT GDSGPAGPPG PPGPPGPPGP PSGGYDFSFL PQPPQEKSQD 
      1210       1220       1230       1240       1250
GGRYYRADDA NVVRDRDLEV DTTLKSLSQQ IENIRSPEGS RKNPARTCRD 
      1260       1270       1280       1290       1300
LKMCHSDWKS GEYWIDPNQG CNLDAIKVYC NMETGQTCVF PTQPSVPQKN 
      1310       1320       1330       1340       1350
WYISPNPKEK KHVWFGESMT DGFQFEYGSE GSDPADVAIQ LTFLRLMSTE 
      1360       1370       1380       1390       1400
ASQNITYHCK NSVAYMDQQT GNLKKSLLLQ GSNEIELRGE GNSRFTYSTL 
      1410       1420       1430       1440       1450
VDGCTSHTGT WGKTVIEYKT TKTSRLPIID VAPLDIGAPD QEFGMDIGPA 

CFV                                                    

Experimental Info

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases