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(Top) 1 Function 2 Interactions 3 References 4 Further reading 5 External links

ALG2

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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)^[1]

Band	4\|4 B1	Start	47,465,067 bp^[1]
Band	4\|4 B1	End	47,474,333 bp^[1]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

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

BioGPS

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

Species

Human

Mouse

Entrez


85365


56737

Ensembl


n/a


ENSMUSG00000039740

UniProt


Q9H553


Q9DBE8

RefSeq (mRNA)


NM_033087 NM_197973


NM_019998 NM_001355496

RefSeq (protein)


NP_149078


NP_064382 NP_001342425

Location (UCSC)

n/a

Chr 4: 47.47 – 47.47 Mb

PubMed search

^[2]

^[3]

Wikidata

View/Edit Human

View/Edit Mouse

Alpha-1,3/1,6-mannosyltransferase ALG2 is an enzyme that is encoded by the ALG2 gene.^[4] Mutations in the human gene are associated with congenital defects in glycosylation ^[5]^[6] 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[edit]

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).^[6]

Interactions[edit]

ALG2 has been shown to interact with ANXA7^[7] and ANXA11.^[7]

References[edit]

^ ^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.

Further reading[edit]

Jaeken J (2005). "Congenital disorders of glycosylation (CDG): update and new developments". Journal of Inherited Metabolic Disease. 27 (3): 423–6. doi:10.1023/B:BOLI.0000031221.44647.9e. PMID 15272470. S2CID 7608163.

Jaeken J, Carchon H (August 2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics". Current Opinion in Pediatrics. 16 (4): 434–9. doi:10.1097/01.mop.0000133636.56790.4a. PMID 15273506.

Satoh H, Shibata H, Nakano Y, Kitaura Y, Maki M (March 2002). "ALG-2 interacts with the amino-terminal domain of annexin XI in a Ca(2+)-dependent manner". Biochemical and Biophysical Research Communications. 291 (5): 1166–72. doi:10.1006/bbrc.2002.6600. PMID 11883939. NB ALG-2 is NOT the protein product of the ALG2 gene.

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. NB ALG-2 is NOT the protein product of the ALG2 gene.

Hansen C, Tarabykina S, la Cour JM, Lollike K, Berchtold MW (June 2003). "The PEF family proteins sorcin and grancalcin interact in vivo and in vitro". FEBS Letters. 545 (2–3): 151–4. doi:10.1016/S0014-5793(03)00518-0. PMID 12804766. S2CID 42572647.

Shibata H, Yamada K, Mizuno T, Yorikawa C, Takahashi H, Satoh H, Kitaura Y, Maki M (January 2004). "The penta-EF-hand protein ALG-2 interacts with a region containing PxY repeats in Alix/AIP1, which is required for the subcellular punctate distribution of the amino-terminal truncation form of Alix/AIP1". Journal of Biochemistry. 135 (1): 117–28. doi:10.1093/jb/mvh014. PMID 14999017. NB ALG-2 is NOT the protein product of the ALG2 gene.

Katoh K, Suzuki H, Terasawa Y, Mizuno T, Yasuda J, Shibata H, Maki M (November 2005). "The penta-EF-hand protein ALG-2 interacts directly with the ESCRT-I component TSG101, and Ca2+-dependently co-localizes to aberrant endosomes with dominant-negative AAA ATPase SKD1/Vps4B". The Biochemical Journal. 391 (Pt 3): 677–85. doi:10.1042/BJ20050398. PMC 1276969. PMID 16004603. NB ALG-2 is NOT the protein product of the ALG2 gene.

Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T (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 Research. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.

Draeby I, Woods YL, la Cour JM, Mollerup J, Bourdon JC, Berchtold MW (November 2007). "The calcium binding protein ALG-2 binds and stabilizes Scotin, a p53-inducible gene product localized at the endoplasmic reticulum membrane". Archives of Biochemistry and Biophysics. 467 (1): 87–94. doi:10.1016/j.abb.2007.07.028. PMC 2691584. PMID 17889823. NB ALG-2 is NOT the protein product of the ALG2 gene.

External links[edit]

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.

Transferases: glycosyltransferases (EC 2.4)

2.4.1: Hexosyl-
transferases

Glucosyl-	Phosphorylase Starch Glycogen Cellobiose Myo- Glycogen synthase Debranching enzyme Branching enzyme 1,3-Beta-glucan synthase Ceramide glucosyltransferase N-glycosyltransferase
Galactosyl-	Lactose synthase B-N-acetylglucosaminyl-glycopeptide b-1,4-galactosyltransferase Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase (C1GALT1)
Glucuronosyl-	B3GAT1 B3GAT2 B3GAT3 UGT1A1 UGT1A3 UGT1A4 UGT1A5 UGT1A6 UGT1A7 UGT1A8 UGT1A9 UGT1A10 UGT2A1 UGT2A2 UGT2A3 UGT2B4 UGT2B7 UGT2B10 UGT2B11 UGT2B15 UGT2B17 UGT2B28 Hyaluronan synthase: HAS1 HAS2 HAS3
Fucosyl-	POFUT1 POFUT2 FUT1 FUT2 FUT3 FUT4 FUT5 FUT6 FUT7 FUT8 FUT9 FUT10 FUT11
Mannosyl-	Dolichyl-phosphate-mannose-protein mannosyltransferase POMT1 POMT2 DPM1 DPM3 ALG1 ALG2 ALG3 ALG6 ALG8 ALG9 ALG12