Biology:ALG2
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
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: GDP-Man:Man1GlcNAc2-PP-dolichol alpha-1,3-mannosyltransferase (EC 2.4.1.132) and Biology: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).[3]
Interactions
ALG2 has been shown to interact with ANXA7[4] and ANXA11.[4]
References
- ↑ "Biosynthesis of asparagine-linked oligosaccharides in Saccharomyces cerevisiae: the alg2 mutation". Glycobiology 3 (4): 357–64. August 1993. doi:10.1093/glycob/3.4.357. PMID 8400550.
- ↑ "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. doi:10.1074/jbc.M302850200. PMID 12684507.
- ↑ 3.0 3.1 "Entrez Gene: ALG2 asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase)". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=85365.
- ↑ 4.0 4.1 "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. doi:10.1016/S1570-9639(02)00445-4. PMID 12445460.
Further reading
- "Congenital disorders of glycosylation (CDG): update and new developments". Journal of Inherited Metabolic Disease 27 (3): 423–6. 2005. doi:10.1023/B:BOLI.0000031221.44647.9e. PMID 15272470.
- "Congenital disorders of glycosylation: a booming chapter of pediatrics". Current Opinion in Pediatrics 16 (4): 434–9. August 2004. doi:10.1097/01.mop.0000133636.56790.4a. PMID 15273506.
- "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. doi:10.1006/bbrc.2002.6600. PMID 11883939. NB ALG-2 is NOT the protein product of the ALG2 gene.
- "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. doi:10.1016/S1570-9639(02)00445-4. PMID 12445460. NB ALG-2 is NOT the protein product of the ALG2 gene.
- "The PEF family proteins sorcin and grancalcin interact in vivo and in vitro". FEBS Letters 545 (2–3): 151–4. June 2003. doi:10.1016/S0014-5793(03)00518-0. PMID 12804766. Bibcode: 2003FEBSL.545..151H.
- "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. doi:10.1093/jb/mvh014. PMID 14999017. NB ALG-2 is NOT the protein product of the ALG2 gene.
- "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. doi:10.1042/BJ20050398. PMID 16004603. NB ALG-2 is NOT the protein product of the ALG2 gene.
- "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. doi:10.1093/dnares/12.2.117. PMID 16303743.
- "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. doi:10.1016/j.abb.2007.07.028. PMID 17889823. NB ALG-2 is NOT the protein product of the ALG2 gene.
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.
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