Alg1

ALG1
Identifiers
Aliases	ALG1, CDG1K, HMAT1, HMT-1, HMT1, MT-1, Mat-1, hMat-1, chitobiosyldiphosphodolichol beta-mannosyltransferase, ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
External IDs	OMIM: 605907; MGI: 2384774; HomoloGene: 5387; GeneCards: ALG1; OMA: ALG1 - orthologs
Gene location ( Human)
Chr.	Chromosome 16 (human)
End	5,087,379 bp
Gene location ( Mouse)
Chr.	Chromosome 16 (mouse)
End	5,062,776 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; buccal mucosa cell; ; body of pancreas; ; left adrenal gland; ; right adrenal cortex; ; mucosa of transverse colon; ; left adrenal cortex; ; body of stomach; ; islet of Langerhans; ; right testis;
	Top expressed in
	right kidney; ; vestibular membrane of cochlear duct; ; otic vesicle; ; proximal tubule; ; utricle; ; stroma of bone marrow; ; saccule; ; lacrimal gland; ; neural layer of retina; ; molar;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; glycosyltransferase activity; mannosyltransferase activity; chitobiosyldiphosphodolichol beta-mannosyltransferase activity;
Cellular component	integral component of membrane; endoplasmic reticulum membrane; endoplasmic reticulum; membrane;
Biological process	dolichol-linked oligosaccharide biosynthetic process; mannosylation; protein glycosylation;
	Sources: Amigo / QuickGO
Orthologs
	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

Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1^[5] whose structure and function has been conserved from lower to higher organisms.^[6]^[7]

Function

The biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise manner. The Alg1 mannosyltransferase I (MT I) catalyzes the first mannosylation step in this process.^[6] Clinically, the deficiency of ALG1 in humans results in ALG1-CDG, a congenital disorder of glycosylation.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000033011 – Ensembl, May 2017
^ ^a ^b ^c 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. doi: 10.1016/S0021-9258(17)43670-2. PMID 6368538.
^ ^a ^b "Entrez Gene: ALG1 asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)".
^ Takahashi T, Honda R, Nishikawa Y (Mar 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. doi: 10.1093/glycob/10.3.321. PMID 10704531.
^ "# 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K". Johns Hopkins University. Retrieved 2019-05-01.

External links

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000033011 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039427 – Ensembl, May 2017

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

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

[pmid6368538-5] 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. doi: 10.1016/S0021-9258(17)43670-2. PMID 6368538.

[entrez-6] "Entrez Gene: ALG1 asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase)".

[pmid10704531-7] Takahashi T, Honda R, Nishikawa Y (Mar 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. doi: 10.1093/glycob/10.3.321. PMID 10704531.

[omim-8] "# 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K". Johns Hopkins University. Retrieved 2019-05-01.

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Function

References

Further reading

External links