ChGn

ChGn
Identifikatori
Aliasi	CSGALNACT1
Vanjski ID-jevi	OMIM: 616615 MGI: 2442354 HomoloGene: 23099 GeneCards: CSGALNACT1
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	69,187,798 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• aktivnost sa transferazom; • glucuronosyltransferase activity; • vezivanje iona metala; • peptidoglycan glycosyltransferase activity; • glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity; • acetylgalactosaminyltransferase activity; • glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity;
Ćelijska komponenta	• integral component of membrane; • integral component of Golgi membrane; • Golđijev aparat; • membrana; • Golđijeva membrana; • intracellular anatomical structure; • Golgi cisterna membrane;
Biološki proces	• UDP-N-acetylgalactosamine metabolic process; • heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; • heparin biosynthetic process; • cell recognition; • chondroitin sulfate biosynthetic process; • anatomical structure morphogenesis; • extracellular matrix organization; • endochondral ossification; • UDP-glucuronate metabolic process; • nervous system development; • cartilage development; • chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; • chondroitin sulfate proteoglycan biosynthetic process; • Ćelijska proliferacija; • proteoglycan biosynthetic process; • dermatan sulfate proteoglycan biosynthetic process; • chondroitin sulfate metabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	55790
	234356
	ENSG00000147408
	ENSMUSG00000036356
	Q8TDX6
	Q8BJQ9
	NM_001130518; NM_018371
	NM_001252623; NM_172753; NM_001364256
NP_001123990; NP_060841; NP_001341405; NP_001341406; NP_001341409;
	NP_001341410; NP_001341412; NP_001341413; NP_001341414; NP_001341416; NP_001341417; NP_001341418; NP_001341419; NP_001341420; NP_001341421; NP_001341423; NP_001341424; NP_001341425; NP_001341426; NP_001341427; NP_001341428; NP_001341404
	NP_001239552; NP_766341; NP_001351185
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

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]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

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

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000036356 - Ensembl, maj 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid17145758-4] 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.

[pmid12446672-5] 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-6] "Entrez Gene: ChGn chondroitin beta1,4 N-acetylgalactosaminyltransferase".

[UniProt-7] "UniProt, Q8TDX6" (jezik: engleski). Pristupljeno 16. 9. 2021.

[Mizumoto_2019-8] 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.

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