B3GNT1

B4GAT1
Identifiers
Aliases	B4GAT1 , B3GN-T1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT, B3GNT1, beta-1,4-glucuronyltransferase 1
External IDs	OMIM: 605517 MGI: 1919680 HomoloGene: 38239 GeneCards: B4GAT1
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11q13.2 Start 66,345,374 bp [1] End 66,347,629 bp [1]
Gene location (Mouse) Chr. Chromosome 19 (mouse) [2] Band 19|19 A Start 5,088,854 bp [2] End 5,091,159 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in endothelial cell middle temporal gyrus pons superior vestibular nucleus prefrontal cortex Brodmann area 23 Brodmann area 9 superior frontal gyrus entorhinal cortex ventral tegmental area Top expressed in hypothalamus hippocampus proper superior frontal gyrus proximal tubule cerebellar cortex mesencephalon neural tube olfactory bulb heart adrenal gland More reference expression data BioGPS More reference expression data
Gene ontology 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
Orthologs Species Human Mouse 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 Mb Chr 19: 5.09 – 5.09 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. Bibcode:1997PNAS...9414294S. 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.

External links

• Human B3GNT6 genome location and B3GNT6 gene details page in the UCSC Genome Browser .
• Human B4GAT1 genome location and B4GAT1 gene details page in the UCSC Genome Browser .