B3GNT1

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase is an enzyme that, in humans, is encoded by the B3GNT1 gene.[5][6]

B4GAT1
Identifiers
AliasesB4GAT1, B3GN-T1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT, B3GNT1, beta-1,4-glucuronyltransferase 1
External IDsOMIM: 605517 MGI: 1919680 HomoloGene: 38239 GeneCards: B4GAT1
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11q13.2Start66,345,374 bp[1]
End66,347,629 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

11041

108902

Ensembl

ENSG00000174684

ENSMUSG00000047379

UniProt

O43505

Q8BWP8

RefSeq (mRNA)

NM_006876

NM_175383

RefSeq (protein)

NP_006867

NP_780592

Location (UCSC)Chr 11: 66.35 – 66.35 MbChr 19: 5.04 – 5.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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
  1. GRCh38: Ensembl release 89: ENSG00000174684 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000047379 - 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. 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. doi:10.1073/pnas.94.26.14294. PMC 24948. PMID 9405606.
  6. "Entrez Gene: B3GNT1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1".
  7. 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.


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