ALG1

ALG1
Identifikatori
Alijasi	ALG1
Spoljašnji ID	OMIM: 605907 MGI: 2384774 HomoloGene: 5387 GeneCards: ALG1
Genska lokacija (miš)
Hr.	Chromosome 16 (mouse)
Kraj	5,062,776 bp
Genska ontologija
Molecular function	• transferase activity; • glycosyltransferase activity; • mannosyltransferase activity; • chitobiosyldiphosphodolichol beta-mannosyltransferase activity;
Cellular component	• саставни део мембране; • endoplasmic reticulum membrane; • ендоплазматични ретикулум; • мембрана;
Biological process	• dolichol-linked oligosaccharide biosynthetic process; • mannosylation; • GO:0033578, GO:0033577, GO:0033575, GO:0033576 protein glycosylation;
	Sources:Amigo / QuickGO
Ortolozi
	56052
	208211
	ENSG00000033011
	ENSMUSG00000039427
	Q9BT22
	Q921Q3
	NM_019109; NM_001330504
	NM_145362
	NP_001317433; NP_061982
	NP_663337
	Wikidata
View/Edit Human	View/Edit Mouse

Hitobiozildifosfodolihol beta-manoziltransferaza je enzim koji je kodiran ALG1 genom.^[4] Njena struktura i funkcija je očuvana od nižih ka višim organizmima.^[5]^[6]

Funkcija

Biosinteza oligosaharida vezanih za lipide je visoko očuvana među eukariotima i katalizovana je od strane 14 glikoziltransferaza na uređen postupni način. Alg1 manoziltransferaza I (MT I) katalizuje prvi korak manozilacije u ovom procesu.^[5] Klinički, nedostatak ALG1 kod ljudi dovodi do ALG1-CDG, urođenog poremećaja glikozilacije.^[7]

Reference

^ ^а ^б ^в GRCm38: Ensembl release 89: ENSMUSG00000039427 - 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.
^ Couto JR, Huffaker TC, Robbins PW (1984). „Cloning and expression in Escherichia coli of a yeast mannosyltransferase from the asparagine-linked glycosylation pathway”. J. Biol. Chem. 259 (1): 378—82. PMID 6368538. doi:10.1016/S0021-9258(17)43670-2 .
^ ^а ^б „Entrez Gene: ALG1 asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)”.
^ Takahashi T, Honda R, Nishikawa Y (март 2000). „Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1”. Glycobiology. 10 (3): 321—7. PMID 10704531. doi:10.1093/glycob/10.3.321.
^ „# 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K”. Johns Hopkins University. Приступљено 2019-05-01.

Literatura

Couto JR, Huffaker TC, Robbins PW (јануар 1984). „Cloning and expression in Escherichia coli of a yeast mannosyltransferase from the asparagine-linked glycosylation pathway”. J. Biol. Chem. 259 (1): 378—82. PMID 6368538. doi:10.1016/S0021-9258(17)43670-2 .
Gao XD, Nishikawa A, Dean N (јун 2004). „Physical interactions between the Alg1, Alg2, and Alg11 mannosyltransferases of the endoplasmic reticulum”. Glycobiology. 14 (6): 559—70. PMID 15044395. doi:10.1093/glycob/cwh072 .
Otsuki T, Ota T, Nishikawa T, et al. (2007). „Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.”. DNA Res. 12 (2): 117—26. PMID 16303743. doi:10.1093/dnares/12.2.117 .
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. PMC 528928 . PMID 15489334. doi:10.1101/gr.2596504.
Kranz C, Denecke J, Lehle L, et al. (2004). „Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I”. Am. J. Hum. Genet. 74 (3): 545—51. PMC 1182267 . PMID 14973782. doi:10.1086/382493.
Schwarz M, Thiel C, Lübbehusen J, et al. (2004). „Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik”. Am. J. Hum. Genet. 74 (3): 472—81. PMC 1182261 . PMID 14973778. doi:10.1086/382492.
Grubenmann CE, Frank CG, Hülsmeier AJ, et al. (2004). „Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik”. Hum. Mol. Genet. 13 (5): 535—42. PMID 14709599. doi:10.1093/hmg/ddh050 .
Clark HF, Gurney AL, Abaya E, et al. (2003). „The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment”. Genome Res. 13 (10): 2265—70. PMC 403697 . PMID 12975309. doi:10.1101/gr.1293003.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899 .

Spoljašnje veze

GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
Human ALG1 genome location and ALG1 gene details page in the UCSC Genome Browser.

[refGRCm38Ensembl-1] а ^б ^в GRCm38: Ensembl release 89: ENSMUSG00000039427 - Ensembl, May 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.

[pmid6368538-4] Couto JR, Huffaker TC, Robbins PW (1984). „Cloning and expression in Escherichia coli of a yeast mannosyltransferase from the asparagine-linked glycosylation pathway”. J. Biol. Chem. 259 (1): 378—82. PMID 6368538. doi:10.1016/S0021-9258(17)43670-2 .

[entrez-5] а ^б „Entrez Gene: ALG1 asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)”.

[pmid10704531-6] Takahashi T, Honda R, Nishikawa Y (март 2000). „Cloning of the human cDNA which can complement the defect of the yeast mannosyltransferase I-deficient mutant alg 1”. Glycobiology. 10 (3): 321—7. PMID 10704531. doi:10.1093/glycob/10.3.321.

[omim-7] „# 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K”. Johns Hopkins University. Приступљено 2019-05-01.

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