ALG2

ALG2
Identifiers
Aliases	ALG2, CDGIi, NET38, hALPG2, CMS14, CMSTA3, alpha-1,3/1,6-mannosyltransferase, CDG1I, ALG2 alpha-1,3/1,6-mannosyltransferase
External IDs	OMIM: 607905; MGI: 1914731; HomoloGene: 5930; GeneCards: ALG2; OMA:ALG2 - orthologs
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	47,474,333 bp
RNA expression pattern
	Top expressed in
	pancreatic epithelial cell; ; corpus epididymis; ; caput epididymis; ; secondary oocyte; ; germinal epithelium; ; tibia; ; islet of Langerhans; ; body of pancreas; ; visceral pleura; ; parietal pleura;
	Top expressed in
	median eminence; ; dorsomedial hypothalamic nucleus; ; paraventricular nucleus of hypothalamus; ; supraoptic nucleus; ; arcuate nucleus; ; dorsal tegmental nucleus; ; ventral tegmental area; ; suprachiasmatic nucleus; ; habenula; ; lateral hypothalamus;
	More reference expression data
	n/a
Gene ontology
Molecular function	GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity; transferase activity; protein N-terminus binding; protein heterodimerization activity; glycosyltransferase activity; protein binding; calcium-dependent protein binding; alpha-1,3-mannosyltransferase activity; GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase activity;
Cellular component	cytoplasm; integral component of membrane; nucleus; membrane; perinuclear region of cytoplasm; endoplasmic reticulum membrane; cytosol; actin cytoskeleton;
Biological process	response to calcium ion; protein glycosylation; dolichol-linked oligosaccharide biosynthetic process; mannosylation; oligosaccharide-lipid intermediate biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	85365
	56737
	n/a
	ENSMUSG00000039740
	Q9H553
	Q9DBE8
	NM_033087; NM_197973
	NM_019998; NM_001355496
	NP_149078
	NP_064382; NP_001342425
	Wikidata
View/Edit Human	View/Edit Mouse

Alpha-1,3/1,6-mannosyltransferase ALG2 is an enzyme that is encoded by the ALG2 gene. Mutations in the human gene are associated with congenital defects in glycosylation The protein encoded by the ALG2 gene belongs to two classes of enzymes: GDP-Man:Man1GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase (EC 2.4.1.132) and GDP-Man:Man2GlcNAc2-PP-dolichol alpha-1,6-mannosyltransferase (EC 2.4.1.257).

Function

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii).

Interactions

ALG2 has been shown to interact with ANXA7 and ANXA11.

References

^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039740 – 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.
^ Jackson BJ, Kukuruzinska MA, Robbins P (August 1993). "Biosynthesis of asparagine-linked oligosaccharides in Saccharomyces cerevisiae: the alg2 mutation". Glycobiology. 3 (4): 357–64. doi:10.1093/glycob/3.4.357. PMID 8400550.
^ Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschütter A, von Figura K, Lehle L, Körner C (June 2003). "A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis". The Journal of Biological Chemistry. 278 (25): 22498–505. doi:10.1074/jbc.M302850200. PMID 12684507.
^ ^a ^b "Entrez Gene: ALG2 asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)".
^ ^a ^b Satoh H, Nakano Y, Shibata H, Maki M (November 2002). "The penta-EF-hand domain of ALG-2 interacts with amino-terminal domains of both annexin VII and annexin XI in a Ca2+-dependent manner". Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics. 1600 (1–2): 61–7. doi:10.1016/S1570-9639(02)00445-4. PMID 12445460.

External links

GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
Human ALG2 genome location and ALG2 gene details page in the UCSC Genome Browser.

This article on a gene on human chromosome 9 is a stub. You can help Wikipedia by expanding it.

[refGRCm38Ensembl-1] GRCm38: Ensembl release 89: ENSMUSG00000039740 – 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.

[pmid18400550-4] Jackson BJ, Kukuruzinska MA, Robbins P (August 1993). "Biosynthesis of asparagine-linked oligosaccharides in Saccharomyces cerevisiae: the alg2 mutation". Glycobiology. 3 (4): 357–64. doi:10.1093/glycob/3.4.357. PMID 8400550.

[ThielSchwarz2003-5] Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschütter A, von Figura K, Lehle L, Körner C (June 2003). "A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis". The Journal of Biological Chemistry. 278 (25): 22498–505. doi:10.1074/jbc.M302850200. PMID 12684507.

[entrez-6] "Entrez Gene: ALG2 asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)".

[pmid12445460-7] Satoh H, Nakano Y, Shibata H, Maki M (November 2002). "The penta-EF-hand domain of ALG-2 interacts with amino-terminal domains of both annexin VII and annexin XI in a Ca2+-dependent manner". Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics. 1600 (1–2): 61–7. doi:10.1016/S1570-9639(02)00445-4. PMID 12445460.

Function

Interactions

References

Further reading

External links