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Gene Symbol |
B4GALT6 |
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Aliases |
B4Gal-T6, beta4Gal-T6 |
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Entrez Gene ID |
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Gene Name |
Beta-1,4-galactosyltransferase 6 |
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Chromosomal Location |
18q12.1 |
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HGNC ID |
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Summary |
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]
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e!Ensembl
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Gene Ontology (GO)
| GO ID |
Ontology |
Function |
Evidence |
Reference |
| GO:0001572 |
Biological process |
Lactosylceramide biosynthetic process |
IDA |
10320813 |
| GO:0008378 |
Molecular function |
Galactosyltransferase activity |
IDA |
10320813 |
| GO:0008489 |
Molecular function |
UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity |
IMP |
24498430 |
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| Protein Information |
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Protein Name |
Beta-1,4-galactosyltransferase 6, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6, UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6, UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6, beta-1,4-GalTase 6, beta4GalT-VI, glucosylceramide beta-1,4-galactosyltransferase, lacCer synthase, lactosylceramide synthase |
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Function |
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Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:3099851, PubMed:1551920, PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity). |
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UniProt |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF02709 |
Glyco_transf_7C |
| PF13733 |
Glyco_transf_7N |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000263168 |
P52907 |
P52907 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| PCOS |
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| Neoplasms |
| Multiple Sclerosis |
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References |
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| Jansen Erik, Laven Joop S E, Dommerholt Henri B R, Polman Jan, van Rijt Cindy, van den Hurk Caroline, Westland Jolanda, Mosselman Sietse, Fauser Bart C J M |
| Global Business Inteligence Center, NV Organon, PO Box 20, 5340 BH Oss, The Netherlands. erik.jansen@organon.com |
| Mol Endocrinol. 2004 Dec;18(12):3050-63. doi: 10.1210/me.2004-0074. Epub 2004 Aug |
Abstract
Polycystic ovary syndrome (PCOS) represents the most common cause of anovulatory infertility and affects 5-10% of women of reproductive age. The etiology of PCOS is still unknown. The current study is the first to describe consistent differences in gene expression profiles in human ovaries comparing PCOS patients vs. healthy normoovulatory individuals. The microarray analysis of PCOS vs. normal ovaries identifies dysregulated expression of genes encoding components of several biological pathways or systems such as Wnt signaling, extracellular matrix components, and immunological factors. Resulting data may provide novel clues for ovarian dysfunction in PCOS. Intriguingly, the gene expression profiles of ovaries from (long-term) androgen-treated female-to-male transsexuals (TSX) show considerable overlap with PCOS. This observation provides supportive evidence that androgens play a key role in the pathogenesis of PCOS. Presented data may contribute to a better understanding of dysregulated pathways in PCOS, which might ultimately reveal novel leads for therapeutic intervention. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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