ALG8

ALG8
Identifiers
Aliases	ALG8 , CDG1H, alpha-1,3-glucosyltransferase, PCLD3, ALG8 alpha-1,3-glucosyltransferase
External IDs	OMIM: 608103; MGI: 2141959; HomoloGene: 6931; GeneCards: ALG8; OMA:ALG8 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q14.1 Start 78,095,244 bp [1] End 78,139,660 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7|7 E1 Start 97,020,813 bp [2] End 97,041,392 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis epithelium of colon ventricular zone testicle right lobe of liver right adrenal gland left adrenal cortex right adrenal cortex stromal cell of endometrium Top expressed in tail of embryo genital tubercle spermatocyte yolk sac Paneth cell otic vesicle ventricular zone endothelial cell of lymphatic vessel zygote spermatid More reference expression data BioGPS More reference expression data
Gene ontology Molecular function glycosyltransferase activity transferase activity hexosyltransferase activity alpha-1,3-mannosyltransferase activity dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity protein binding dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane endoplasmic reticulum membrane Biological process protein glycosylation dolichol-linked oligosaccharide biosynthetic process protein N-linked glycosylation oligosaccharide-lipid intermediate biosynthetic process mannosylation protein N-linked glycosylation via asparagine Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 79053 381903 Ensembl ENSG00000159063 ENSMUSG00000035704 UniProt Q9BVK2 Q6P8H8 RefSeq (mRNA) NM_001007027 NM_001007028 NM_024079 NM_199035 RefSeq (protein) NP_001007028 NP_076984 NP_950200 Location (UCSC) Chr 11: 78.1 – 78.14 Mb Chr 7: 97.02 – 97.04 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme encoded in humans by the ALG8 gene. ^[5]

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 are associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000159063 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000035704 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "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. S2CID   7608163.
• 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. S2CID   21397515.
• 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. Bibcode:2002PNAS...9916899M. 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
• Human ALG8 genome location and ALG8 gene details page in the UCSC Genome Browser .