B3GALTL

B3GLCT
Identifiers
Aliases	B3GLCT, B3GTL, B3Glc-T, Gal-T, beta3Glc-T, B3GALTL, beta 3-glucosyltransferase
External IDs	MGI: 2685903 HomoloGene: 14978 GeneCards: B3GLCT
Genetically Related Diseases
age related macular degeneration[1]
Gene ontology Molecular function • transferase activity • transferase activity, transferring glycosyl groups Cellular component • integral component of membrane • endoplasmic reticulum membrane • endoplasmic reticulum • membrane Biological process • fucose metabolic process • protein glycosylation • protein O-linked fucosylation • carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	145173	381694
Ensembl	ENSG00000187676	ENSMUSG00000051950
UniProt	Q6Y288	Q8BHT6
RefSeq (mRNA)	NM_194318	NM_001081204
RefSeq (protein)	NP_919299.3	NP_001074673.1
Location (UCSC)	Chr 13: 31.2 – 31.33 Mb	Chr 5: 149.68 – 149.76 Mb
PubMed search	[2]	[3]
Wikidata

View/Edit Human

View/Edit Mouse

Beta-1,3-glucosyltransferase is an enzyme that in humans is encoded by the B3GALTL gene.^[4][5][6][7]

References

1. "Diseases that are genetically associated with B3GLCT view/edit references on wikidata".
2. "Human PubMed Reference:".
3. "Mouse PubMed Reference:".
4. Heinonen TY, Pasternack L, Lindfors K, Breton C, Gastinel LN, Maki M, Kainulainen H (Aug 2003). "A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts". Biochem Biophys Res Commun. 309 (1): 166–174. doi:10.1016/S0006-291X(03)01540-7. PMID 12943678.
5. Sato T, Sato M, Kiyohara K, Sogabe M, Shikanai T, Kikuchi N, Togayachi A, Ishida H, Ito H, Kameyama A, Gotoh M, Narimatsu H (Nov 2006). "Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain". Glycobiology. 16 (12): 1194–1206. doi:10.1093/glycob/cwl035. PMID 16899492.
6. Kozma K, Keusch JJ, Hegemann B, Luther KB, Klein D, Hess D, Haltiwanger RS, Hofsteenge J (Nov 2006). "Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats". J Biol Chem. 281 (48): 36742–36751. doi:10.1074/jbc.M605912200. PMID 17032646.
7. "Entrez Gene: B3GALTL beta 1,3-galactosyltransferase-like".

External links

• GeneReviews/NCBI/NIH/UW entry on Peters Plus Syndrome
• OMIM entries on Peters Plus syndrome

Further reading

• 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): 16899–16903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–45. doi:10.1038/ng1285. PMID 14702039.
• Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–528. doi:10.1038/nature02379. PMC 2665288. PMID 15057823.
• 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): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• 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.
• Lesnik Oberstein SA, Kriek M, White SJ, et al. (2006). "Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase". Am. J. Hum. Genet. 79 (3): 562–566. doi:10.1086/507567. PMC 1559553. PMID 16909395.