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.[6]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000112280 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000026147 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Wu JJ, Woods PE, Eyre DR (Dec 1992). "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". J Biol Chem. 267 (32): 23007–14. doi:10.1016/S0021-9258(18)50048-X. PMID 1429648.
^ ab"Entrez Gene: COL9A1 collagen, type IX, alpha 1".
External linksedit
GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant
GeneReviews/NCBI/NIH/UW entry on Stickler Syndrome
Further readingedit
Muragaki Y, Nishimura I, Henney A, et al. (1990). "The alpha 1 (IX) collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA". Proc. Natl. Acad. Sci. U.S.A. 87 (7): 2400–4. Bibcode:1990PNAS...87.2400M. doi:10.1073/pnas.87.7.2400. PMC53696. PMID 1690886.
Muragaki Y, Kimura T, Ninomiya Y, Olsen BR (1990). "The complete primary structure of two distinct forms of human alpha 1 (IX) collagen chains". Eur. J. Biochem. 192 (3): 703–8. doi:10.1111/j.1432-1033.1990.tb19279.x. PMID 2209617.
Fahrig T, Landa C, Pesheva P, et al. (1988). "Characterization of binding properties of the myelin-associated glycoprotein to extracellular matrix constituents". EMBO J. 6 (10): 2875–83. doi:10.1002/j.1460-2075.1987.tb02590.x. PMC553721. PMID 2446864.
Kimura T, Mattei MG, Stevens JW, et al. (1989). "Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha 1(IX) gene on the human chromosome 6". Eur. J. Biochem. 179 (1): 71–8. doi:10.1111/j.1432-1033.1989.tb14522.x. PMID 2465149.
Fitch JM, Mentzer A, Mayne R, Linsenmayer TF (1988). "Acquisition of type IX collagen by the developing avian primary corneal stroma and vitreous". Dev. Biol. 128 (2): 396–405. doi:10.1016/0012-1606(88)90301-6. PMID 3294062.
McCormick D, van der Rest M, Goodship J, et al. (1987). "Structure of the glycosaminoglycan domain in the type IX collagen-proteoglycan". Proc. Natl. Acad. Sci. U.S.A. 84 (12): 4044–8. Bibcode:1987PNAS...84.4044M. doi:10.1073/pnas.84.12.4044. PMC305018. PMID 3473493.
Richardson GP, Russell IJ, Duance VC, Bailey AJ (1987). "Polypeptide composition of the mammalian tectorial membrane". Hear. Res. 25 (1): 45–60. doi:10.1016/0378-5955(87)90078-5. PMID 3542919. S2CID 42559806.
Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.
Warman ML, Tiller GE, Polumbo PA, et al. (1993). "Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen (COL9A1)". Genomics. 17 (3): 694–8. doi:10.1006/geno.1993.1391. PMID 8244386.
Diab M, Wu JJ, Eyre DR (1996). "Collagen type IX from human cartilage: a structural profile of intermolecular cross-linking sites". Biochem. J. 314 (1): 327–32. doi:10.1042/bj3140327. PMC1217044. PMID 8660302.
Pihlajamaa T, Vuoristo MM, Annunen S, et al. (1998). "Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule". Matrix Biol. 17 (3): 237–41. doi:10.1016/S0945-053X(98)90063-4. PMID 9707347.
Paassilta P, Lohiniva J, Göring HH, et al. (2001). "Identification of a novel common genetic risk factor for lumbar disk disease". JAMA. 285 (14): 1843–9. doi:10.1001/jama.285.14.1843. PMID 11308397.
Czarny-Ratajczak M, Lohiniva J, Rogala P, et al. (2001). "A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity". Am. J. Hum. Genet. 69 (5): 969–80. doi:10.1086/324023. PMC1274373. PMID 11565064.
Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants". Mol. Vis. 8: 205–20. PMID 12107410.
Zhang P, Jimenez SA, Stokes DG (2003). "Regulation of human COL9A1 gene expression. Activation of the proximal promoter region by SOX9". J. Biol. Chem. 278 (1): 117–23. doi:10.1074/jbc.M208049200. PMID 12399468.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Pihlajamaa T, Lankinen H, Ylöstalo J, et al. (2004). "Characterization of recombinant amino-terminal NC4 domain of human collagen IX: interaction with glycosaminoglycans and cartilage oligomeric matrix protein". J. Biol. Chem. 279 (23): 24265–73. doi:10.1074/jbc.M402865200. PMID 15047691.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID 15489334.
This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by expanding it.
collagen, type, alpha, collagen, alpha, chain, protein, that, humans, encoded, col9a1, gene, col9a1available, structurespdbortholog, search, pdbe, rcsblist, codes2uuridentifiersaliasescol9a1, dj149l1, edm6, stl4, collagen, type, alpha, collagen, type, alpha, c. Collagen alpha 1 IX chain is a protein that in humans is encoded by the COL9A1 gene 5 6 COL9A1Available structuresPDBOrtholog search PDBe RCSBList of PDB id codes2UURIdentifiersAliasesCOL9A1 DJ149L1 1 2 EDM6 MED STL4 collagen type IX alpha 1 collagen type IX alpha 1 chainExternal IDsOMIM 120210 MGI 88465 HomoloGene 1393 GeneCards COL9A1Gene location Human Chr Chromosome 6 human 1 Band6q13Start70 216 040 bp 1 End70 303 084 bp 1 Gene location Mouse Chr Chromosome 1 mouse 2 Band1 A5 1 9 95 cMStart24 216 691 bp 2 End24 291 765 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed intibiaspermganglionic eminenceamygdalacaudate nucleuscingulate gyrusputamennucleus accumbenssubstantia nigrahippocampus properTop expressed incondylefossasacculecalvariaphalanx of fingerlesser wing of sphenoid boneutricleciliary bodyfootendocardial cushionMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionextracellular matrix structural constituent conferring tensile strength metal ion binding extracellular matrix structural constituentCellular componentcollagen type IX trimer extracellular region collagen endoplasmic reticulum lumen extracellular space extracellular matrix collagen containing extracellular matrixBiological processanimal organ morphogenesis extracellular matrix organizationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez129712839EnsemblENSG00000112280ENSMUSG00000026147UniProtP20849Q05722RefSeq mRNA NM 001851NM 078485NM 001377289NM 001377290NM 001377291NM 001290691NM 007740RefSeq protein NP 001842NP 511040NP 001364218NP 001364219NP 001364220NP 001277620NP 031766Location UCSC Chr 6 70 22 70 3 MbChr 1 24 22 24 29 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThis 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 6 References edit a b c GRCh38 Ensembl release 89 ENSG00000112280 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000026147 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Wu JJ Woods PE Eyre DR Dec 1992 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 J Biol Chem 267 32 23007 14 doi 10 1016 S0021 9258 18 50048 X PMID 1429648 a b Entrez Gene COL9A1 collagen type IX alpha 1 External links editGeneReviews NCBI NIH UW entry on Multiple Epiphyseal Dysplasia Dominant GeneReviews NCBI NIH UW entry on Stickler SyndromeFurther reading editMuragaki Y Nishimura I Henney A et al 1990 The alpha 1 IX collagen gene gives rise to two different transcripts in both mouse embryonic and human fetal RNA Proc Natl Acad Sci U S A 87 7 2400 4 Bibcode 1990PNAS 87 2400M doi 10 1073 pnas 87 7 2400 PMC 53696 PMID 1690886 Muragaki Y Kimura T Ninomiya Y Olsen BR 1990 The complete primary structure of two distinct forms of human alpha 1 IX collagen chains Eur J Biochem 192 3 703 8 doi 10 1111 j 1432 1033 1990 tb19279 x PMID 2209617 Fahrig T Landa C Pesheva P et al 1988 Characterization of binding properties of the myelin associated glycoprotein to extracellular matrix constituents EMBO J 6 10 2875 83 doi 10 1002 j 1460 2075 1987 tb02590 x PMC 553721 PMID 2446864 Kimura T Mattei MG Stevens JW et al 1989 Molecular cloning of rat and human type IX collagen cDNA and localization of the alpha 1 IX gene on the human chromosome 6 Eur J Biochem 179 1 71 8 doi 10 1111 j 1432 1033 1989 tb14522 x PMID 2465149 Fitch JM Mentzer A Mayne R Linsenmayer TF 1988 Acquisition of type IX collagen by the developing avian primary corneal stroma and vitreous Dev Biol 128 2 396 405 doi 10 1016 0012 1606 88 90301 6 PMID 3294062 McCormick D van der Rest M Goodship J et al 1987 Structure of the glycosaminoglycan domain in the type IX collagen proteoglycan Proc Natl Acad Sci U S A 84 12 4044 8 Bibcode 1987PNAS 84 4044M doi 10 1073 pnas 84 12 4044 PMC 305018 PMID 3473493 Richardson GP Russell IJ Duance VC Bailey AJ 1987 Polypeptide composition of the mammalian tectorial membrane Hear Res 25 1 45 60 doi 10 1016 0378 5955 87 90078 5 PMID 3542919 S2CID 42559806 Robertson NG Khetarpal U Gutierrez Espeleta GA et al 1995 Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening Genomics 23 1 42 50 doi 10 1006 geno 1994 1457 PMID 7829101 Warman ML Tiller GE Polumbo PA et al 1993 Physical and linkage mapping of the human and murine genes for the alpha 1 chain of type IX collagen COL9A1 Genomics 17 3 694 8 doi 10 1006 geno 1993 1391 PMID 8244386 Diab M Wu JJ Eyre DR 1996 Collagen type IX from human cartilage a structural profile of intermolecular cross linking sites Biochem J 314 1 327 32 doi 10 1042 bj3140327 PMC 1217044 PMID 8660302 Pihlajamaa T Vuoristo MM Annunen S et al 1998 Human COL9A1 and COL9A2 genes Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule Matrix Biol 17 3 237 41 doi 10 1016 S0945 053X 98 90063 4 PMID 9707347 Paassilta P Lohiniva J Goring HH et al 2001 Identification of a novel common genetic risk factor for lumbar disk disease JAMA 285 14 1843 9 doi 10 1001 jama 285 14 1843 PMID 11308397 Czarny Ratajczak M Lohiniva J Rogala P et al 2001 A mutation in COL9A1 causes multiple epiphyseal dysplasia further evidence for locus heterogeneity Am J Hum Genet 69 5 969 80 doi 10 1086 324023 PMC 1274373 PMID 11565064 Wistow G Bernstein SL Wyatt MK et al 2002 Expressed sequence tag analysis of human RPE choroid for the NEIBank Project over 6000 non redundant transcripts novel genes and splice variants Mol Vis 8 205 20 PMID 12107410 Zhang P Jimenez SA Stokes DG 2003 Regulation of human COL9A1 gene expression Activation of the proximal promoter region by SOX9 J Biol Chem 278 1 117 23 doi 10 1074 jbc M208049200 PMID 12399468 Strausberg RL Feingold EA Grouse LH et al 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Mungall AJ Palmer SA Sims SK et al 2003 The DNA sequence and analysis of human chromosome 6 Nature 425 6960 805 11 doi 10 1038 nature02055 PMID 14574404 Ota T Suzuki Y Nishikawa T et al 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 40 5 doi 10 1038 ng1285 PMID 14702039 Pihlajamaa T Lankinen H Ylostalo J et al 2004 Characterization of recombinant amino terminal NC4 domain of human collagen IX interaction with glycosaminoglycans and cartilage oligomeric matrix protein J Biol Chem 279 23 24265 73 doi 10 1074 jbc M402865200 PMID 15047691 Gerhard DS Wagner L Feingold EA et al 2004 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 nbsp This article on a gene on human chromosome 6 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Collagen type IX alpha 1 amp oldid 1186242363, wikipedia, wiki, book, books, library,
