ChGn
Hondroitin-sulfat N-acetilgalaktozaminiltransferaza 1 je enzim koji je kod ljudi kodiran genom CSGALNACT1.[4][5][6]
Aminokiselinska sekvenca
Dužina polipeptidnog lanca je 532 aminokiseline, а molekulska težina 61.294 Da.[7]
| 10 | 20 | 30 | 40 | 50 | ||||
|---|---|---|---|---|---|---|---|---|
| MMMVRRGLLA | WISRVVVLLV | LLCCAISVLY | MLACTPKGDE | EQLALPRANS | ||||
| PTGKEGYQAV | LQEWEEQHRN | YVSSLKRQIA | QLKEELQERS | EQLRNGQYQA | ||||
| SDAAGLGLDR | SPPEKTQADL | LAFLHSQVDK | AEVNAGVKLA | TEYAAVPFDS | ||||
| FTLQKVYQLE | TGLTRHPEEK | PVRKDKRDEL | VEAIESALET | LNSPAENSPN | ||||
| HRPYTASDFI | EGIYRTERDK | GTLYELTFKG | DHKHEFKRLI | LFRPFGPIMK | ||||
| VKNEKLNMAN | TLINVIVPLA | KRVDKFRQFM | QNFREMCIEQ | DGRVHLTVVY | ||||
| FGKEEINEVK | GILENTSKAA | NFRNFTFIQL | NGEFSRGKGL | DVGARFWKGS | ||||
| NVLLFFCDVD | IYFTSEFLNT | CRLNTQPGKK | VFYPVLFSQY | NPGIIYGHHD | ||||
| AVPPLEQQLV | IKKETGFWRD | FGFGMTCQYR | SDFINIGGFD | LDIKGWGGED | ||||
| VHLYRKYLHS | NLIVVRTPVR | GLFHLWHEKR | CMDELTPEQY | KMCMQSKAMN | ||||
| EASHGQLGML | VFRHEIEAHL | RKQKQKTSSK | KT |
Klinički značaj
Mutacije u ovom genu povezuju se s oblikom blage koštane displazije.[8]
Reference
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036356 - Ensembl, maj 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.
- ^ Sakai K, Kimata K, Sato T, Gotoh M, Narimatsu H, Shinomiya K, Watanabe H (Feb 2007). "Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage". The Journal of Biological Chemistry. 282 (6): 4152–61. doi:10.1074/jbc.M606870200. PMID 17145758.
- ^ Sato T, Gotoh M, Kiyohara K, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Togayachi A, Kudo T, Asada M, Watanabe H, Imamura T, Kimata K, Narimatsu H (Jan 2003). "Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate". The Journal of Biological Chemistry. 278 (5): 3063–71. doi:10.1074/jbc.M208886200. PMID 12446672.
- ^ "Entrez Gene: ChGn chondroitin beta1,4 N-acetylgalactosaminyltransferase".
- ^ "UniProt, Q8TDX6" (jezik: engleski). Pristupljeno 16. 9. 2021.
- ^ Mizumoto S, Janecke AR, Sadeghpour A, Povysil G, McDonald MT, Unger S, et al. (Task Force for Neonatal Genomics) (novembar 2019). "CSGALNACT1-congenital disorder of glycosylation: a mild skeletal dysplasia with advanced bone age". Human Mutation. 41 (3): 655–667. doi:10.1002/humu.23952. PMC 7027858. PMID 31705726.
Dopunska literatura
- Gotoh M, Sato T, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Zhang Y, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Nishihara S, Watanabe H, Kimata K, Narimatsu H (Oct 2002). "Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis". The Journal of Biological Chemistry. 277 (41): 38189–96. doi:10.1074/jbc.M203619200. PMID 12163485.
- Uyama T, Kitagawa H, Tamura Ji J, Sugahara K (Mar 2002). "Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: the key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate". The Journal of Biological Chemistry. 277 (11): 8841–6. doi:10.1074/jbc.M111434200. PMID 11788602.
- Kitagawa H, Uyama T, Sugahara K (Oct 2001). "Molecular cloning and expression of a human chondroitin synthase". The Journal of Biological Chemistry. 276 (42): 38721–6. doi:10.1074/jbc.M106871200. PMID 11514575.
Vanjski linkovi
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Index:
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