ALG6

ALG6
Identifiers
Aliases	ALG6 , CDG1C, alpha-1,3-glucosyltransferase, ALG6 alpha-1,3-glucosyltransferase
External IDs	OMIM: 604566; MGI: 2444031; HomoloGene: 6920; GeneCards: ALG6; OMA:ALG6 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p31.3 Start 63,367,575 bp [1] End 63,438,553 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 C6 Start 99,603,901 bp [2] End 99,651,697 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in secondary oocyte gonad skin of thigh mononuclear cell monocyte testicle mucosa of ileum granulocyte mucosa of transverse colon rectum Top expressed in yolk sac duodenum tail of embryo jejunum hepatobiliary system liver ileum epiblast placenta colon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function transferase activity hexosyltransferase activity glucosyltransferase activity dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity glycosyltransferase activity dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity Cellular component integral component of membrane endoplasmic reticulum membrane membrane endoplasmic reticulum Biological process protein glycosylation dolichol-linked oligosaccharide biosynthetic process oligosaccharide-lipid intermediate biosynthetic process protein N-linked glycosylation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 29929 320438 Ensembl ENSG00000088035 ENSMUSG00000073792 UniProt Q9Y672 Q3TAE8 RefSeq (mRNA) NM_013339 NM_001081264 RefSeq (protein) NP_037471 NP_001074733 Location (UCSC) Chr 1: 63.37 – 63.44 Mb Chr 4: 99.6 – 99.65 Mb PubMed search [3] [4]
Wikidata
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Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG6 gene. ^{[5] [6] [7]}

Function

This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000088035 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000073792 – 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. Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T (Jun 1999). "A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic". Proceedings of the National Academy of Sciences of the United States of America. 96 (12): 6982–7. Bibcode:1999PNAS...96.6982I. doi: 10.1073/pnas.96.12.6982 . PMC   22030 . PMID   10359825.
6. Westphal V, Kjaergaard S, Schollen E, Martens K, Grunewald S, Schwartz M, Matthijs G, Freeze HH (Mar 2002). "A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency". Human Molecular Genetics. 11 (5): 599–604. doi: 10.1093/hmg/11.5.599 . PMID   11875054.
7. "Entrez Gene: ALG6 asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase)".

Further reading

• Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M (Aug 1998). "A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide". The Journal of Clinical Investigation. 102 (4): 647–52. doi:10.1172/JCI2266. PMC   508925 . PMID   9710431.
• Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K (Oct 1998). "Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase" (PDF). Proceedings of the National Academy of Sciences of the United States of America. 95 (22): 13200–5. Bibcode:1998PNAS...9513200K. doi: 10.1073/pnas.95.22.13200 . PMC   23759 . PMID   9789065.
• Imbach T, Grünewald S, Schenk B, Burda P, Schollen E, Wevers RA, Jaeken J, de Klerk JB, Berger EG, Matthijs G, Aebi M, Hennet T (May 2000). "Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic". Human Genetics. 106 (5): 538–45. doi:10.1007/s004390050022. PMID   10914684.
• Westphal V, Schottstädt C, Marquardt T, Freeze HH (Jul 2000). "Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic". Molecular Genetics and Metabolism. 70 (3): 219–23. doi:10.1006/mgme.2000.3017. PMID   10924277.
• Westphal V, Murch S, Kim S, Srikrishna G, Winchester B, Day R, Freeze HH (Dec 2000). "Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation". The American Journal of Pathology. 157 (6): 1917–25. doi:10.1016/S0002-9440(10)64830-4. PMC   1885788 . PMID   11106564.
• de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V (Jan 2001). "A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases". Journal of Medical Genetics. 38 (1): 14–9. doi:10.1136/jmg.38.1.14. PMC   1734729 . PMID   11134235.
• Vuillaumier-Barrot S, Le Bizec C, Durand G, Seta N (2001). "The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic". Journal of Human Genetics. 46 (9): 547–8. doi: 10.1007/s100380170038 . PMID   11558905.
• Oriol R, Martinez-Duncker I, Chantret I, Mollicone R, Codogno P (Sep 2002). "Common origin and evolution of glycosyltransferases using Dol-P-monosaccharides as donor substrate". Molecular Biology and Evolution. 19 (9): 1451–63. doi: 10.1093/oxfordjournals.molbev.a004208 . PMID   12200473.
• Schollen E, Martens K, Geuzens E, Matthijs G (Oct 2002). "DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)". European Journal of Human Genetics. 10 (10): 643–8. doi: 10.1038/sj.ejhg.5200858 . PMID   12357336.
• Imabayashi H, Mori T, Gojo S, Kiyono T, Sugiyama T, Irie R, Isogai T, Hata J, Toyama Y, Umezawa A (Aug 2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Experimental Cell Research. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID   12878157.
• Westphal V, Xiao M, Kwok PY, Freeze HH (Nov 2003). "Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic". Human Mutation. 22 (5): 420–1. doi:10.1002/humu.9195. PMID   14517965. S2CID   6115715.
• Eklund EA, Sun L, Yang SP, Pasion RM, Thorland EC, Freeze HH (Jan 2006). "Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation". Biochemical and Biophysical Research Communications. 339 (3): 755–60. doi:10.1016/j.bbrc.2005.11.073. PMID   16321363.

External links

• GeneReviews/NCBI/NIH/UW entry on Congenital Disorders of Glycosylation Overview
• Human ALG6 genome location and ALG6 gene details page in the UCSC Genome Browser .