ALG2 explained
Alpha-1,3/1,6-mannosyltransferase ALG2 is an enzyme that is encoded by the ALG2 gene.[1] Mutations in the human gene are associated with congenital defects in glycosylation [2] [3] The protein encoded by the ALG2 gene belongs to two classes of enzymes: and .
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[4] and ANXA11.[4]
Further reading
- Jaeken J . Congenital disorders of glycosylation (CDG): update and new developments . Journal of Inherited Metabolic Disease . 27 . 3 . 423–6 . 2005 . 15272470 . 10.1023/B:BOLI.0000031221.44647.9e . 7608163 .
- Jaeken J, Carchon H . Congenital disorders of glycosylation: a booming chapter of pediatrics . Current Opinion in Pediatrics . 16 . 4 . 434–9 . August 2004 . 15273506 . 10.1097/01.mop.0000133636.56790.4a .
- Satoh H, Shibata H, Nakano Y, Kitaura Y, Maki M . 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 . March 2002 . 11883939 . 10.1006/bbrc.2002.6600 . NB ALG-2 is NOT the protein product of the ALG2 gene.
- Satoh H, Nakano Y, Shibata H, Maki M . 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 . November 2002 . 12445460 . 10.1016/S1570-9639(02)00445-4 . NB ALG-2 is NOT the protein product of the ALG2 gene.
- Hansen C, Tarabykina S, la Cour JM, Lollike K, Berchtold MW . The PEF family proteins sorcin and grancalcin interact in vivo and in vitro . FEBS Letters . 545 . 2–3 . 151–4 . June 2003 . 12804766 . 10.1016/S0014-5793(03)00518-0 . 42572647 .
- Shibata H, Yamada K, Mizuno T, Yorikawa C, Takahashi H, Satoh H, Kitaura Y, Maki M . 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 . January 2004 . 14999017 . 10.1093/jb/mvh014 . 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 . 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 . November 2005 . 16004603 . 1276969 . 10.1042/BJ20050398 . 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 . 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 . 2007 . 16303743 . 10.1093/dnares/12.2.117 . free .
- Draeby I, Woods YL, la Cour JM, Mollerup J, Bourdon JC, Berchtold MW . 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 . November 2007 . 17889823 . 2691584 . 10.1016/j.abb.2007.07.028 . NB ALG-2 is NOT the protein product of the ALG2 gene.
External links
Notes and References
- Jackson BJ, Kukuruzinska MA, Robbins P . Biosynthesis of asparagine-linked oligosaccharides in Saccharomyces cerevisiae: the alg2 mutation . Glycobiology . 3 . 4 . 357–64 . August 1993 . 8400550 . 10.1093/glycob/3.4.357 .
- Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschütter A, von Figura K, Lehle L, Körner C . 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 . June 2003 . 12684507 . 10.1074/jbc.M302850200 . free .
- Web site: Entrez Gene: ALG2 asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase).
- Satoh H, Nakano Y, Shibata H, Maki M . 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 . November 2002 . 12445460 . 10.1016/S1570-9639(02)00445-4 .