| 释义 |
- References
- External links
- Further reading
{{Infobox_gene}}Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene.[1][2]This gene encodes one of the three alpha chains of type IX collagen, a collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene may be associated with multiple epiphyseal dysplasia. Two transcript variants have been identified for this gene.[2] References1. ^{{cite journal | vauthors = Wu JJ, Woods PE, Eyre DR | title = Identification of cross-linking sites in bovine cartilage type IX collagen reveals an antiparallel type II-type IX molecular relationship and type IX to type IX bonding | journal = J Biol Chem | volume = 267 | issue = 32 | pages = 23007–14 |date=Dec 1992 | pmid = 1429648 | pmc = | doi = }}
2. ^1 {{cite web | title = Entrez Gene: COL9A1 collagen, type IX, alpha 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1297| accessdate = }}
External links- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=edm-ad GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant]
- [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=stickler GeneReviews/NCBI/NIH/UW entry on Stickler Syndrome]
Further reading{{refbegin | 2}}- {{cite journal | vauthors=Muragaki Y, Nishimura I, Henney A |title=The alpha 1 (IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 7 |pages= 2400–4 |year= 1990 |pmid= 1690886 | pmc=53696 |doi=10.1073/pnas.87.7.2400 |display-authors=etal}}
- {{cite journal | vauthors=Muragaki Y, Kimura T, Ninomiya Y, Olsen BR |title=The complete primary structure of two distinct forms of human alpha 1 (IX) collagen chains. |journal=Eur. J. Biochem. |volume=192 |issue= 3 |pages= 703–8 |year= 1990 |pmid= 2209617 |doi=10.1111/j.1432-1033.1990.tb19279.x }}
- {{cite journal | vauthors=Fahrig T, Landa C, Pesheva P |title=Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents. |journal=EMBO J. |volume=6 |issue= 10 |pages= 2875–83 |year= 1988 |pmid= 2446864 | pmc=553721 |doi= |display-authors=etal}}
- {{cite journal | vauthors=Kimura T, Mattei MG, Stevens JW |title=Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha 1(IX) gene on the human chromosome 6. |journal=Eur. J. Biochem. |volume=179 |issue= 1 |pages= 71–8 |year= 1989 |pmid= 2465149 |doi=10.1111/j.1432-1033.1989.tb14522.x |display-authors=etal}}
- {{cite journal | vauthors=Fitch JM, Mentzer A, Mayne R, Linsenmayer TF |title=Acquisition of type IX collagen by the developing avian primary corneal stroma and vitreous. |journal=Dev. Biol. |volume=128 |issue= 2 |pages= 396–405 |year= 1988 |pmid= 3294062 |doi=10.1016/0012-1606(88)90301-6 }}
- {{cite journal | vauthors=McCormick D, van der Rest M, Goodship J |title=Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=84 |issue= 12 |pages= 4044–8 |year= 1987 |pmid= 3473493 | pmc=305018 |doi=10.1073/pnas.84.12.4044 |display-authors=etal}}
- {{cite journal | vauthors=Richardson GP, Russell IJ, Duance VC, Bailey AJ |title=Polypeptide composition of the mammalian tectorial membrane. |journal=Hear. Res. |volume=25 |issue= 1 |pages= 45–60 |year= 1987 |pmid= 3542919 |doi=10.1016/0378-5955(87)90078-5 }}
- {{cite journal | vauthors=Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA |title=Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. |journal=Genomics |volume=23 |issue= 1 |pages= 42–50 |year= 1995 |pmid= 7829101 |doi= 10.1006/geno.1994.1457 |display-authors=etal}}
- {{cite journal | vauthors=Warman ML, Tiller GE, Polumbo PA |title=Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1). |journal=Genomics |volume=17 |issue= 3 |pages= 694–8 |year= 1993 |pmid= 8244386 |doi=10.1006/geno.1993.1391 |display-authors=etal}}
- {{cite journal | vauthors=Diab M, Wu JJ, Eyre DR |title=Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites. |journal=Biochem. J. |volume=314 |issue= 1|pages= 327–32 |year= 1996 |pmid= 8660302 | pmc=1217044 |doi= }}
- {{cite journal | vauthors=Pihlajamaa T, Vuoristo MM, Annunen S |title=Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule. |journal=Matrix Biol. |volume=17 |issue= 3 |pages= 237–41 |year= 1998 |pmid= 9707347 |doi=10.1016/S0945-053X(98)90063-4 |display-authors=etal}}
- {{cite journal | vauthors=Paassilta P, Lohiniva J, Göring HH |title=Identification of a novel common genetic risk factor for lumbar disk disease. |journal=JAMA |volume=285 |issue= 14 |pages= 1843–9 |year= 2001 |pmid= 11308397 |doi=10.1001/jama.285.14.1843 |display-authors=etal}}
- {{cite journal | vauthors=Czarny-Ratajczak M, Lohiniva J, Rogala P |title=A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. |journal=Am. J. Hum. Genet. |volume=69 |issue= 5 |pages= 969–80 |year= 2001 |pmid= 11565064 | pmc=1274373 |doi=10.1086/324023 |display-authors=etal}}
- {{cite journal | vauthors=Wistow G, Bernstein SL, Wyatt MK |title=Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants. |journal=Mol. Vis. |volume=8 |issue= |pages= 205–20 |year= 2002 |pmid= 12107410 |doi= |display-authors=etal}}
- {{cite journal | vauthors=Zhang P, Jimenez SA, Stokes DG |title=Regulation of human COL9A1 gene expression. Activation of the proximal promoter region by SOX9. |journal=J. Biol. Chem. |volume=278 |issue= 1 |pages= 117–23 |year= 2003 |pmid= 12399468 |doi= 10.1074/jbc.M208049200 }}
- {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 | pmc=139241 |doi= 10.1073/pnas.242603899 |display-authors=etal}}
- {{cite journal | vauthors=Mungall AJ, Palmer SA, Sims SK |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805–11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 |display-authors=etal}}
- {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
- {{cite journal | vauthors=Pihlajamaa T, Lankinen H, Ylöstalo J |title=Characterization of recombinant amino-terminal NC4 domain of human collagen IX: interaction with glycosaminoglycans and cartilage oligomeric matrix protein. |journal=J. Biol. Chem. |volume=279 |issue= 23 |pages= 24265–73 |year= 2004 |pmid= 15047691 |doi= 10.1074/jbc.M402865200 |display-authors=etal}}
- {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 | pmc=528928 |doi= 10.1101/gr.2596504 |display-authors=etal}}
{{refend}}{{PDB Gallery|geneid=1297}}{{Fibrous proteins}}{{gene-6-stub}} 1 : Collagens |