ALG8

ALG8, alpha-1,3-glucosyltransferase
Identifiers
Symbols	ALG8 ; CDG1H
External IDs	OMIM: 608103 MGI: 2141959 HomoloGene: 6931 GeneCards: ALG8 Gene
EC number	2.4.1.265
Gene ontology Molecular function • alpha-1,3-mannosyltransferase activity • dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity Cellular component • endoplasmic reticulum membrane • integral component of membrane Biological process • protein N-linked glycosylation • dolichol-linked oligosaccharide biosynthetic process • oligosaccharide-lipid intermediate biosynthetic process • protein N-linked glycosylation via asparagine • post-translational protein modification • cellular protein metabolic process • mannosylation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	79053	381903
Ensembl	ENSG00000159063	ENSMUSG00000035704
UniProt	Q9BVK2	Q6P8H8
RefSeq (mRNA)	NM_001007027	NM_199035
RefSeq (protein)	NP_001007028	NP_950200
Location (UCSC)	Chr 11: 78.1 – 78.14 Mb	Chr 7: 97.37 – 97.39 Mb
PubMed search

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG8 gene.^[1]

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified.^[1]

References

1. "Entrez Gene: ALG8 asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)".

Further reading

• Jaeken J (2005). "Congenital disorders of glycosylation (CDG): update and new developments.". J. Inherit. Metab. Dis. 27 (3): 423–6. doi:10.1023/B:BOLI.0000031221.44647.9e. PMID 15272470.
• Jaeken J, Carchon H (2004). "Congenital disorders of glycosylation: a booming chapter of pediatrics.". Curr. Opin. Pediatr. 16 (4): 434–9. doi:10.1097/01.mop.0000133636.56790.4a. PMID 15273506.
• Adams MD, Kerlavage AR, Fleischmann RD; et al. (1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence." (PDF). Nature 377 (6547 Suppl): 3–174. PMID 7566098.
• Stanchi F, Bertocco E, Toppo S; et al. (2001). "Characterization of 16 novel human genes showing high similarity to yeast sequences.". Yeast 18 (1): 69–80. doi:10.1002/1097-0061(200101)18:1<69::AID-YEA647>3.0.CO;2-H. PMID 11124703.
• Oriol R, Martinez-Duncker I, Chantret I; et al. (2003). "Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate.". Mol. Biol. Evol. 19 (9): 1451–63. doi:10.1093/oxfordjournals.molbev.a004208. PMID 12200473.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Chantret I, Dancourt J, Dupré T; et al. (2003). "A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation.". J. Biol. Chem. 278 (11): 9962–71. doi:10.1074/jbc.M211950200. PMID 12480927.
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Schollen E, Frank CG, Keldermans L; et al. (2004). "Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency).". J. Med. Genet. 41 (7): 550–6. doi:10.1136/jmg.2003.016923. PMC 1735831. PMID 15235028.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Otsuki T, Ota T, Nishikawa T; et al. (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 Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
• Kimura K, Wakamatsu A, Suzuki Y; et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview