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COL1A1 (англ. Collagen type I alpha 1 chain) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 17-ї хромосоми. Довжина поліпептидного ланцюга білка становить 1 464 амінокислот, а молекулярна маса — 138 941.
| COL1A1 | |||||||||||||||||
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| Ідентифікатори | |||||||||||||||||
| Символи | COL1A1, EDSC, OI1, OI2, OI3, OI4, collagen type I alpha 1, collagen type I alpha 1 chain, EDSARTH1, CAFYD | ||||||||||||||||
| Зовнішні ІД | OMIM: 120150 MGI: 88467 HomoloGene: 73874 GeneCards: COL1A1 | ||||||||||||||||
| Пов'язані генетичні захворювання | |||||||||||||||||
| рак молочної залози, Caffey disease, остеопороз, Ehlers-Danlos syndrome, arthrochalasis type | |||||||||||||||||
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| Шаблон експресії | |||||||||||||||||
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| Більше даних | |||||||||||||||||
| 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. 17: 50.18 – 50.2 Mb | Хр. 11: 94.83 – 94.84 Mb | |||||||||||||||
| PubMed search | |||||||||||||||||
| Вікідані | |||||||||||||||||
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| 10 | 20 | 30 | 40 | 50 | ||||
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| MFSFVDLRLL | LLLAATALLT | HGQEEGQVEG | QDEDIPPITC | VQNGLRYHDR | ||||
| DVWKPEPCRI | CVCDNGKVLC | DDVICDETKN | CPGAEVPEGE | CCPVCPDGSE | ||||
| SPTDQETTGV | EGPKGDTGPR | GPRGPAGPPG | RDGIPGQPGL | PGPPGPPGPP | ||||
| GPPGLGGNFA | PQLSYGYDEK | STGGISVPGP | MGPSGPRGLP | GPPGAPGPQG | ||||
| FQGPPGEPGE | PGASGPMGPR | GPPGPPGKNG | DDGEAGKPGR | PGERGPPGPQ | ||||
| GARGLPGTAG | LPGMKGHRGF | SGLDGAKGDA | GPAGPKGEPG | SPGENGAPGQ | ||||
| MGPRGLPGER | GRPGAPGPAG | ARGNDGATGA | AGPPGPTGPA | GPPGFPGAVG | ||||
| AKGEAGPQGP | RGSEGPQGVR | GEPGPPGPAG | AAGPAGNPGA | DGQPGAKGAN | ||||
| GAPGIAGAPG | FPGARGPSGP | QGPGGPPGPK | GNSGEPGAPG | SKGDTGAKGE | ||||
| PGPVGVQGPP | GPAGEEGKRG | ARGEPGPTGL | PGPPGERGGP | GSRGFPGADG | ||||
| VAGPKGPAGE | RGSPGPAGPK | GSPGEAGRPG | EAGLPGAKGL | TGSPGSPGPD | ||||
| GKTGPPGPAG | QDGRPGPPGP | PGARGQAGVM | GFPGPKGAAG | EPGKAGERGV | ||||
| PGPPGAVGPA | GKDGEAGAQG | PPGPAGPAGE | RGEQGPAGSP | GFQGLPGPAG | ||||
| PPGEAGKPGE | QGVPGDLGAP | GPSGARGERG | FPGERGVQGP | PGPAGPRGAN | ||||
| GAPGNDGAKG | DAGAPGAPGS | QGAPGLQGMP | GERGAAGLPG | PKGDRGDAGP | ||||
| KGADGSPGKD | GVRGLTGPIG | PPGPAGAPGD | KGESGPSGPA | GPTGARGAPG | ||||
| DRGEPGPPGP | AGFAGPPGAD | GQPGAKGEPG | DAGAKGDAGP | PGPAGPAGPP | ||||
| GPIGNVGAPG | AKGARGSAGP | PGATGFPGAA | GRVGPPGPSG | NAGPPGPPGP | ||||
| AGKEGGKGPR | GETGPAGRPG | EVGPPGPPGP | AGEKGSPGAD | GPAGAPGTPG | ||||
| PQGIAGQRGV | VGLPGQRGER | GFPGLPGPSG | EPGKQGPSGA | SGERGPPGPM | ||||
| GPPGLAGPPG | ESGREGAPGA | EGSPGRDGSP | GAKGDRGETG | PAGPPGAPGA | ||||
| PGAPGPVGPA | GKSGDRGETG | PAGPTGPVGP | VGARGPAGPQ | GPRGDKGETG | ||||
| EQGDRGIKGH | RGFSGLQGPP | GPPGSPGEQG | PSGASGPAGP | RGPPGSAGAP | ||||
| GKDGLNGLPG | PIGPPGPRGR | TGDAGPVGPP | GPPGPPGPPG | PPSAGFDFSF | ||||
| LPQPPQEKAH | DGGRYYRADD | ANVVRDRDLE | VDTTLKSLSQ | QIENIRSPEG | ||||
| SRKNPARTCR | DLKMCHSDWK | SGEYWIDPNQ | GCNLDAIKVF | CNMETGETCV | ||||
| YPTQPSVAQK | NWYISKNPKD | KRHVWFGESM | TDGFQFEYGG | QGSDPADVAI | ||||
| QLTFLRLMST | EASQNITYHC | KNSVAYMDQQ | TGNLKKALLL | QGSNEIEIRA | ||||
| EGNSRFTYSV | TVDGCTSHTG | AWGKTVIEYK | TTKTSRLPII | DVAPLDVGAP | ||||
| DQEFGFDVGP | VCFL |
Білок має сайт для зв'язування з іонами металів, іоном кальцію. Локалізований у позаклітинному матриксі. Також секретований назовні.
Література
- 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
- Bornstein P., McKay J., Morishima J.K., Devarayalu S., Gelinas R.E. (1987). Regulatory elements in the first intron contribute to transcriptional control of the human alpha 1(I) collagen gene. Proc. Natl. Acad. Sci. U.S.A. 84: 8869—8873. PMID 3480516 DOI:10.1073/pnas.84.24.8869
- Click E.M., Bornstein P. (1970). Isolation and characterization of the cyanogen bromide peptides from the alpha 1 and alpha 2 chains of human skin collagen. Biochemistry. 9: 4699—4706. PMID 5529814 DOI:10.1021/bi00826a012
- Chu M.-L., Myers J.C., Bernard M.P., Ding J.-F., Ramirez F. (1982). Cloning and characterization of five overlapping cDNAs specific for the human pro alpha 1(I) collagen chain. Nucleic Acids Res. 10: 5925—5934. PMID 6183642 DOI:10.1093/nar/10.19.5925
- Barsh G.S., Roush C.L., Bonadio J., Byers P.H., Gelinas R.E. (1985). Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. Proc. Natl. Acad. Sci. U.S.A. 82: 2870—2874. PMID 3857621 DOI:10.1073/pnas.82.9.2870
- Maekelae J.K., Raassina M., Virta A., Vuorio E. (1988). Human pro alpha 1(I) collagen: cDNA sequence for the C-propeptide domain. Nucleic Acids Res. 16: 349—349. PMID 3340531 DOI:10.1093/nar/16.1.349
Примітки
- Захворювання, генетично пов'язані з COL1A1 переглянути/редагувати посилання на ВікіДаних.
- Human PubMed Reference:.
- Mouse PubMed Reference:.
- HUGO Gene Nomenclature Commitee, HGNC:2197 (англ.) . Архів оригіналу за 23 червня 2017. Процитовано 6 лютого 2017.
- UniProt, P02452 (англ.) . Архів оригіналу за 22 грудня 2016. Процитовано 6 лютого 2017.
Див. також
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COL1A1 angl Collagen type I alpha 1 chain bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 17 yi hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 1 464 aminokislot a molekulyarna masa 138 941 5 COL1A1Nayavni strukturiPDBPoshuk ortologiv PDBe RCSB Spisok kodiv PDB3GXE 1Q7D 2LLP 3EJHIdentifikatoriSimvoliCOL1A1 EDSC OI1 OI2 OI3 OI4 collagen type I alpha 1 collagen type I alpha 1 chain EDSARTH1 CAFYDZovnishni ID OMIM 120150 MGI 88467 HomoloGene 73874 GeneCards COL1A1Pov yazani genetichni zahvoryuvannyarak molochnoyi zalozi Caffey disease osteoporoz Ehlers Danlos syndrome arthrochalasis type 1 Ontologiya genaMolekulyarna funkciya zv yazuvannya z ionom metalu identical protein binding platelet derived growth factor binding extracellular matrix structural constituent GO 0001948 GO 0016582 protein binding protease binding extracellular matrix structural constituent conferring tensile strengthKlitinna komponenta endoplasmic reticulum lumen citoplazma kompleks Goldzhi endoplazmatichnij retikulum kolagen secretory granule GO 0005578 Pozaklitinna matricya mizhklitinnij prostir collagen type I trimer extracellular region collagen containing extracellular matrixBiologichnij proces cellular response to tumor necrosis factor zsidannya krovi Prorizuvannya zubiv response to mechanical stimulus response to corticosteroid negative regulation of cell substrate adhesion response to steroid hormone extracellular matrix organization osteoblast differentiation collagen fibril organization skin morphogenesis bone trabecula formation Zagoyennya ran skin development intramembranous ossification positive regulation of cell migration tooth mineralization cellular response to epidermal growth factor stimulus cellular response to fibroblast growth factor stimulus response to estradiol collagen catabolic process response to cAMP cellular response to vitamin E response to fluoride cartilage development involved in endochondral bone morphogenesis sluh response to peptide hormone cellular response to retinoic acid cellular response to transforming growth factor beta stimulus regulation of immune response cellular response to fluoride GO 0060469 GO 0009371 positive regulation of transcription DNA templated leukocyte migration collagen biosynthetic process protein heterotrimerization cellular response to amino acid stimulus osifikaciya endohondralna response to hyperoxia face morphogenesis protein transport response to nutrient platelet activation zir positive regulation of epithelial to mesenchymal transition response to hydrogen peroxide embryonic skeletal system development skeletal system morphogenesis osifikaciya response to nutrient levels positive regulation of canonical Wnt signaling pathway protein localization to nucleus cellular response to mechanical stimulus skeletal system development blood vessel development collagen activated tyrosine kinase receptor signaling pathwayDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez1277 12842Ensembl ENSG00000108821 ENSMUSG00000001506UniProt P02452 P11087RefSeq mRNK NM 000088NM 007742RefSeq bilok NP 000079NP 031768Lokus UCSC Hr 17 50 18 50 2 MbHr 11 94 83 94 84 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDR DVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSE SPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPP GPPGLGGNFAPQLSYGYDEKSTGGISVPGPMGPSGPRGLPGPPGAPGPQG FQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQ GARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQ MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVG AKGEAGPQGPRGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGAN GAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGE PGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADG VAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPD GKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGV PGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAG PPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGAN GAPGNDGAKGDAGAPGAPGSQGAPGLQGMPGERGAAGLPGPKGDRGDAGP KGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPG DRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPP GPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPG PQGIAGQRGVVGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPM GPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPAGPPGAPGA PGAPGPVGPAGKSGDRGETGPAGPTGPVGPVGARGPAGPQGPRGDKGETG EQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGPRGPPGSAGAP GKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSF LPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEG SRKNPARTCRDLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCV YPTQPSVAQKNWYISKNPKDKRHVWFGESMTDGFQFEYGGQGSDPADVAI QLTFLRLMSTEASQNITYHCKNSVAYMDQQTGNLKKALLLQGSNEIEIRA EGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPIIDVAPLDVGAP DQEFGFDVGPVCFL 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 Bilok maye sajt dlya zv yazuvannya z ionami metaliv ionom kalciyu Lokalizovanij u pozaklitinnomu matriksi Takozh sekretovanij nazovni Literaturared 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 Bornstein P McKay J Morishima J K Devarayalu S Gelinas R E 1987 Regulatory elements in the first intron contribute to transcriptional control of the human alpha 1 I collagen gene Proc Natl Acad Sci U S A 84 8869 8873 PMID 3480516 DOI 10 1073 pnas 84 24 8869 Click E M Bornstein P 1970 Isolation and characterization of the cyanogen bromide peptides from the alpha 1 and alpha 2 chains of human skin collagen Biochemistry 9 4699 4706 PMID 5529814 DOI 10 1021 bi00826a012 Chu M L Myers J C Bernard M P Ding J F Ramirez F 1982 Cloning and characterization of five overlapping cDNAs specific for the human pro alpha 1 I collagen chain Nucleic Acids Res 10 5925 5934 PMID 6183642 DOI 10 1093 nar 10 19 5925 Barsh G S Roush C L Bonadio J Byers P H Gelinas R E 1985 Intron mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta Proc Natl Acad Sci U S A 82 2870 2874 PMID 3857621 DOI 10 1073 pnas 82 9 2870 Maekelae J K Raassina M Virta A Vuorio E 1988 Human pro alpha 1 I collagen cDNA sequence for the C propeptide domain Nucleic Acids Res 16 349 349 PMID 3340531 DOI 10 1093 nar 16 1 349Primitkired Zahvoryuvannya genetichno pov yazani z COL1A1 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 2197 angl Arhiv originalu za 23 chervnya 2017 Procitovano 6 lyutogo 2017 UniProt P02452 angl Arhiv originalu za 22 grudnya 2016 Procitovano 6 lyutogo 2017 Div takozhred Hromosoma 17 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title COL1A1 amp oldid 35368468