COL2A1 (англ. Collagen type II alpha 1 chain) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 12-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 487 амінокислот, а молекулярна маса — 141 785.
COL2A1 | |||||||||||||||||
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Ідентифікатори | |||||||||||||||||
Символи | COL2A1, AOM, COL11A3, Cartilage collagen, ANFH, STL1, collagen type II alpha 1, collagen type II alpha 1 chain, SEDC, Collagen II | ||||||||||||||||
Зовнішні ІД | OMIM: 120140 MGI: 88452 HomoloGene: 55607 GeneCards: COL2A1 | ||||||||||||||||
Пов'язані генетичні захворювання | |||||||||||||||||
spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia, Stanescu type, spondyloepimetaphyseal dysplasia, Strudwick type, хвороба Пертеса, Kniest dysplasia, mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis, platyspondylic lethal skeletal dysplasia, Torrance type, multiple epiphyseal dysplasia, Beighton type, Spondyloperipheral dysplasia, Czech dysplasia, metatarsal type, spondylometaphyseal dysplasia, Stickler syndrome type 1, Stickler syndrome, hypochondrogenesis, achondrogenesis type II | |||||||||||||||||
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Ортологи | |||||||||||||||||
Види | Людина | Миша | |||||||||||||||
Entrez |
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Ensembl |
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UniProt |
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RefSeq (мРНК) |
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RefSeq (білок) |
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Локус (UCSC) | Хр. 12: 47.97 – 48 Mb | Хр. 15: 97.87 – 97.9 Mb | |||||||||||||||
PubMed search | |||||||||||||||||
Вікідані | |||||||||||||||||
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10 | 20 | 30 | 40 | 50 | ||||
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MIRLGAPQTL | VLLTLLVAAV | LRCQGQDVQE | AGSCVQDGQR | YNDKDVWKPE | ||||
PCRICVCDTG | TVLCDDIICE | DVKDCLSPEI | PFGECCPICP | TDLATASGQP | ||||
GPKGQKGEPG | DIKDIVGPKG | PPGPQGPAGE | QGPRGDRGDK | GEKGAPGPRG | ||||
RDGEPGTPGN | PGPPGPPGPP | GPPGLGGNFA | AQMAGGFDEK | AGGAQLGVMQ | ||||
GPMGPMGPRG | PPGPAGAPGP | QGFQGNPGEP | GEPGVSGPMG | PRGPPGPPGK | ||||
PGDDGEAGKP | GKAGERGPPG | PQGARGFPGT | PGLPGVKGHR | GYPGLDGAKG | ||||
EAGAPGVKGE | SGSPGENGSP | GPMGPRGLPG | ERGRTGPAGA | AGARGNDGQP | ||||
GPAGPPGPVG | PAGGPGFPGA | PGAKGEAGPT | GARGPEGAQG | PRGEPGTPGS | ||||
PGPAGASGNP | GTDGIPGAKG | SAGAPGIAGA | PGFPGPRGPP | GPQGATGPLG | ||||
PKGQTGEPGI | AGFKGEQGPK | GEPGPAGPQG | APGPAGEEGK | RGARGEPGGV | ||||
GPIGPPGERG | APGNRGFPGQ | DGLAGPKGAP | GERGPSGLAG | PKGANGDPGR | ||||
PGEPGLPGAR | GLTGRPGDAG | PQGKVGPSGA | PGEDGRPGPP | GPQGARGQPG | ||||
VMGFPGPKGA | NGEPGKAGEK | GLPGAPGLRG | LPGKDGETGA | AGPPGPAGPA | ||||
GERGEQGAPG | PSGFQGLPGP | PGPPGEGGKP | GDQGVPGEAG | APGLVGPRGE | ||||
RGFPGERGSP | GAQGLQGPRG | LPGTPGTDGP | KGASGPAGPP | GAQGPPGLQG | ||||
MPGERGAAGI | AGPKGDRGDV | GEKGPEGAPG | KDGGRGLTGP | IGPPGPAGAN | ||||
GEKGEVGPPG | PAGSAGARGA | PGERGETGPP | GPAGFAGPPG | ADGQPGAKGE | ||||
QGEAGQKGDA | GAPGPQGPSG | APGPQGPTGV | TGPKGARGAQ | GPPGATGFPG | ||||
AAGRVGPPGS | NGNPGPPGPP | GPSGKDGPKG | ARGDSGPPGR | AGEPGLQGPA | ||||
GPPGEKGEPG | DDGPSGAEGP | PGPQGLAGQR | GIVGLPGQRG | ERGFPGLPGP | ||||
SGEPGKQGAP | GASGDRGPPG | PVGPPGLTGP | AGEPGREGSP | GADGPPGRDG | ||||
AAGVKGDRGE | TGAVGAPGAP | GPPGSPGPAG | PTGKQGDRGE | AGAQGPMGPS | ||||
GPAGARGIQG | PQGPRGDKGE | AGEPGERGLK | GHRGFTGLQG | LPGPPGPSGD | ||||
QGASGPAGPS | GPRGPPGPVG | PSGKDGANGI | PGPIGPPGPR | GRSGETGPAG | ||||
PPGNPGPPGP | PGPPGPGIDM | SAFAGLGPRE | KGPDPLQYMR | ADQAAGGLRQ | ||||
HDAEVDATLK | SLNNQIESIR | SPEGSRKNPA | RTCRDLKLCH | PEWKSGDYWI | ||||
DPNQGCTLDA | MKVFCNMETG | ETCVYPNPAN | VPKKNWWSSK | SKEKKHIWFG | ||||
ETINGGFHFS | YGDDNLAPNT | ANVQMTFLRL | LSTEGSQNIT | YHCKNSIAYL | ||||
DEAAGNLKKA | LLIQGSNDVE | IRAEGNSRFT | YTALKDGCTK | HTGKWGKTVI | ||||
EYRSQKTSRL | PIIDIAPMDI | GGPEQEFGVD | IGPVCFL |
Задіяний у такому біологічному процесі, як альтернативний сплайсинг. Білок має сайт для зв'язування з іонами металів, іоном кальцію. Локалізований у позаклітинному матриксі. Також секретований назовні.
Література
- Su M.W., Lee B., Ramirez F., Machado M.A., Horton W.A. (1989). Nucleotide sequence of the full length cDNA encoding for human type II procollagen. Nucleic Acids Res. 17: 9473—9473. PMID 2587267 DOI:10.1093/nar/17.22.9473
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 14: 2121—2127. 2004. PMID 15489334 DOI:10.1101/gr.2596504
- Baldwin C.T., Reginato A.M., Smith C., Jimenez S.A., Prockop D.J. (1989). Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens. Biochem. J. 262: 521—528. PMID 2803268 DOI:10.1042/bj2620521
- Su M.W., Benson-Chanda V., Vissing H., Ramirez F. (1989). Organization of the exons coding for pro alpha 1(II) collagen N-propeptide confirms a distinct evolutionary history of this domain of the fibrillar collagen genes. Genomics. 4: 438—441. PMID 2714801 DOI:10.1016/0888-7543(89)90353-4
- Ryan M.C., Sieraski M., Sandell L.J. (1990). The human type II procollagen gene: identification of an additional protein-coding domain and location of potential regulatory sequences in the promoter and first intron. Genomics. 8: 41—48. PMID 2081599 DOI:10.1016/0888-7543(90)90224-I
- Nunez A.M., Kohno K., Martin G.R., Yamada Y. (1986). Promoter region of the human pro-alpha 1(II)-collagen gene. Gene. 44: 11—16. PMID 3021582 DOI:10.1016/0378-1119(86)90037-5
Примітки
- Захворювання, генетично пов'язані з COL2A1 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- (англ.) . Архів оригіналу за 23 червня 2017. Процитовано 11 вересня 2017.
- (англ.) . Архів оригіналу за 17 вересня 2017. Процитовано 11 вересня 2017.
Див. також
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COL2A1 angl Collagen type II alpha 1 chain bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 12 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 1 487 aminokislot a molekulyarna masa 141 785 COL2A1Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB1U5M 2FSE 2SEBIdentifikatoriSimvoliCOL2A1 AOM COL11A3 Cartilage collagen ANFH STL1 collagen type II alpha 1 collagen type II alpha 1 chain SEDC Collagen IIZovnishni ID OMIM 120140 MGI 88452 HomoloGene 55607 GeneCards COL2A1Pov yazani genetichni zahvoryuvannyaspondyloepiphyseal dysplasia congenita spondyloepiphyseal dysplasia Stanescu type spondyloepimetaphyseal dysplasia Strudwick type hvoroba Pertesa Kniest dysplasia mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early onset osteoarthritis platyspondylic lethal skeletal dysplasia Torrance type multiple epiphyseal dysplasia Beighton type Spondyloperipheral dysplasia Czech dysplasia metatarsal type spondylometaphyseal dysplasia Stickler syndrome type 1 Stickler syndrome hypochondrogenesis achondrogenesis type II Ontologiya genaMolekulyarna funkciya identical protein binding platelet derived growth factor binding extracellular matrix structural constituent conferring tensile strength extracellular matrix structural constituent zv yazuvannya z ionom metalu MHC class II protein binding proteoglycan bindingKlitinna komponenta endoplasmic reticulum lumen collagen type II trimer kolagen GO 0005578 Pozaklitinna matricya citoplazma bazalna membrana mizhklitinnij prostir extracellular region collagen containing extracellular matrixBiologichnij proces proteoglycan metabolic process central nervous system development osifikaciya endohondralna chondrocyte differentiation collagen fibril organization osifikaciya limb morphogenesis otic vesicle development notochord development negative regulation of extrinsic apoptotic signaling pathway in absence of ligand heart morphogenesis inner ear morphogenesis inner ear development tissue homeostasis regulation of immune response cartilage development involved in endochondral bone morphogenesis sluh skeletal system development collagen catabolic process regulyaciya ekspresiyi geniv bone development extracellular matrix organization skeletal system morphogenesis cellular response to BMP stimulus zir roof of mouth development embryonic skeletal joint morphogenesis cartilage development limb bud formation cartilage condensation anterior head developmentDzherela Amigo QuickGOOrtologiVidi Lyudina MishaEntrez1280 12824Ensembl ENSG00000139219 ENSMUSG00000022483UniProt P02458 P28481RefSeq mRNK NM 001844 NM 033150NM 001113515 NM 031163RefSeq bilok NP 001835 NP 149162NP 001106987 NP 112440Lokus UCSC Hr 12 47 97 48 MbHr 15 97 87 97 9 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPE PCRICVCDTGTVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQP GPKGQKGEPGDIKDIVGPKGPPGPQGPAGEQGPRGDRGDKGEKGAPGPRG RDGEPGTPGNPGPPGPPGPPGPPGLGGNFAAQMAGGFDEKAGGAQLGVMQ GPMGPMGPRGPPGPAGAPGPQGFQGNPGEPGEPGVSGPMGPRGPPGPPGK PGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKG EAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQP GPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGS PGPAGASGNPGTDGIPGAKGSAGAPGIAGAPGFPGPRGPPGPQGATGPLG PKGQTGEPGIAGFKGEQGPKGEPGPAGPQGAPGPAGEEGKRGARGEPGGV GPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAGPKGANGDPGR PGEPGLPGARGLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPG VMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPA GERGEQGAPGPSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGE RGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQG MPGERGAAGIAGPKGDRGDVGEKGPEGAPGKDGGRGLTGPIGPPGPAGAN GEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPGADGQPGAKGE QGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPG AAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPA GPPGEKGEPGDDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGP SGEPGKQGAPGASGDRGPPGPVGPPGLTGPAGEPGREGSPGADGPPGRDG AAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPS GPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQGLPGPPGPSGD QGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAG PPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQ HDAEVDATLKSLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWI DPNQGCTLDAMKVFCNMETGETCVYPNPANVPKKNWWSSKSKEKKHIWFG ETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNITYHCKNSIAYL DEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTKHTGKWGKTVI EYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Zadiyanij u takomu biologichnomu procesi yak alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z ionami metaliv ionom kalciyu Lokalizovanij u pozaklitinnomu matriksi Takozh sekretovanij nazovni LiteraturaSu M W Lee B Ramirez F Machado M A Horton W A 1989 Nucleotide sequence of the full length cDNA encoding for human type II procollagen Nucleic Acids Res 17 9473 9473 PMID 2587267 DOI 10 1093 nar 17 22 9473 The status quality and expansion of the NIH full length cDNA project the Mammalian Gene Collection MGC Genome Res 14 2121 2127 2004 PMID 15489334 DOI 10 1101 gr 2596504 Baldwin C T Reginato A M Smith C Jimenez S A Prockop D J 1989 Structure of cDNA clones coding for human type II procollagen The alpha 1 II chain is more similar to the alpha 1 I chain than two other alpha chains of fibrillar collagens Biochem J 262 521 528 PMID 2803268 DOI 10 1042 bj2620521 Su M W Benson Chanda V Vissing H Ramirez F 1989 Organization of the exons coding for pro alpha 1 II collagen N propeptide confirms a distinct evolutionary history of this domain of the fibrillar collagen genes Genomics 4 438 441 PMID 2714801 DOI 10 1016 0888 7543 89 90353 4 Ryan M C Sieraski M Sandell L J 1990 The human type II procollagen gene identification of an additional protein coding domain and location of potential regulatory sequences in the promoter and first intron Genomics 8 41 48 PMID 2081599 DOI 10 1016 0888 7543 90 90224 I Nunez A M Kohno K Martin G R Yamada Y 1986 Promoter region of the human pro alpha 1 II collagen gene Gene 44 11 16 PMID 3021582 DOI 10 1016 0378 1119 86 90037 5PrimitkiZahvoryuvannya genetichno pov yazani z COL2A1 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference angl Arhiv originalu za 23 chervnya 2017 Procitovano 11 veresnya 2017 angl Arhiv originalu za 17 veresnya 2017 Procitovano 11 veresnya 2017 Div takozhHromosoma 12 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi