Protein-coding gene in the species Homo sapiens
| B4GAT1 |
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| Identifiers |
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| Aliases | B4GAT1, B3GN-T1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT, B3GNT1, beta-1,4-glucuronyltransferase 1 |
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| External IDs | OMIM: 605517; MGI: 1919680; HomoloGene: 38239; GeneCards: B4GAT1; OMA:B4GAT1 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 11 (human)[1] |
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| | Band | 11q13.2 | Start | 66,345,374 bp[1] |
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| End | 66,347,629 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 19 (mouse)[2] |
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| | Band | 19|19 A | Start | 5,088,854 bp[2] |
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| End | 5,091,159 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - endothelial cell
- middle temporal gyrus
- pons
- lateral nuclear group of thalamus
- superior vestibular nucleus
- prefrontal cortex
- Brodmann area 23
- Brodmann area 9
- Pars compacta
- superior frontal gyrus
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| | Top expressed in | - hypothalamus
- striatum of neuraxis
- hippocampus proper
- superior frontal gyrus
- primary visual cortex
- proximal tubule
- right kidney
- cerebellar cortex
- dentate gyrus of hippocampal formation granule cell
- mesencephalon
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| Molecular function | - transferase activity
- glucuronosyltransferase activity
- metal ion binding
- glycosyltransferase activity
- N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity
- protein binding
| | Cellular component | - integral component of membrane
- integral component of Golgi membrane
- Golgi membrane
- Golgi apparatus
- extracellular exosome
- membrane
| | Biological process | - protein glycosylation
- poly-N-acetyllactosamine biosynthetic process
- keratan sulfate biosynthetic process
- protein O-linked mannosylation
- axon guidance
- protein O-linked glycosylation
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 11: 66.35 – 66.35 Mb | Chr 19: 5.09 – 5.09 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase is an enzyme that, in humans, is encoded by the B3GNT1 gene.[5][6]
β-1,4-glucuronyltransferase
The B3GNT1 gene encodes a β-1,4-glucuronyltransferase, designated B4GAT1, that transfers glucuronic acid towards both α- and β-anomers of xylose.[7] B4GAT1 is the priming enzyme for LARGE, a dual-activity glycosyltransferase that is capable of extending products of B4GAT1. Thus, B4GAT1 is involved in the initiation of the LARGE-dependent repeating disaccharide that is necessary for extracellular matrix protein binding to O-mannosylated α-dystroglycan that is lacking in secondary dystroglycanopathies.
Misidentification
The B3GNT1 gene was first reported to encode a member of the beta-1,3-N-acetylglucosaminyltransferase family and thought to be responsible for the synthesis of poly-N-acetyllactosamine,[5] a determinant for the blood group i antigen. Thus, it was also known as iGNT.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000174684 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000047379 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ a b Sasaki K, Kurata-Miura K, Ujita M, Angata K, Nakagawa S, Sekine S, Nishi T, Fukuda M (December 1997). "Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis". Proceedings of the National Academy of Sciences of the United States of America. 94 (26): 14294–9. Bibcode:1997PNAS...9414294S. doi:10.1073/pnas.94.26.14294. PMC 24948. PMID 9405606.
- ^ "Entrez Gene: B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1".
- ^ Praissman JL, Live DH, Wang S, Ramiah A, Chinoy ZS, Boons GJ, Moremen KW, Wells L (October 2014). "B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan". eLife. 3. doi:10.7554/eLife.03943. PMC 4227051. PMID 25279697.
Further reading
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
External links
