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B4GAT1 - beta-1,4-glucuronyltransferase 1 (human)

Gene
Symbol
Dates
  • Create:
    2016-09-14
  • Modify:
    2025-02-02
Description
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]
Enables glucuronosyltransferase activity. Involved in protein O-linked mannosylation. Located in Golgi apparatus. Implicated in congenital muscular dystrophy-dystroglycanopathy type A13.

1 Names and Identifiers

1.1 Synonyms

  • B3GN-T1
  • B3GNT1
  • B3GNT6
  • BETA3GNTI
  • MDDGA13
  • iGAT
  • iGNT
  • N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase
  • UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
  • UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
  • beta-1,3-N-acetylglucosaminyltransferase bGnT-6
  • i-beta-1,3-N-acetylglucosaminyltransferase
  • poly-N-acetyllactosamine extension enzyme

1.2 Other Identifiers

1.2.1 HGNC ID

1.2.2 Ensembl ID

1.2.3 Alliance Gene ID

1.2.4 Bgee Gene ID

1.2.5 Enzyme Commission (EC) Number

1.2.6 GenCC ID

1.2.7 GlyCosmos Gene

1.2.8 KEGG Gene

1.2.9 MIM Number

1.2.10 Open Targets ID

1.2.11 PharmGKB ID

1.2.12 Pharos Target

1.2.13 VEuPathDB ID

1.2.14 Wikidata

3 Proteins

3.1 Protein Function

Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1) (PMID: 19587235, PMID: 23359570, PMID: 25279697, PMID: 25279699). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the glucuronyl-beta-1,4-xylose-beta disaccharide primer, which is further elongated by LARGE1, during synthesis of phosphorylated O-mannosyl glycan (PMID: 25279697, PMID: 25279699). Phosphorylated O-mannosyl glycan is a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (PMID: 25279697, PMID: 25279699). Required for axon guidance; via its function in O-mannosylation of alpha-dystroglycan (DAG1) (By similarity).

3.2 Protein 3D Structures

3.2.1 AlphaFold Structures

Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605

3.3 Protein Targets

4 BioAssays

4.1 RNAi BioAssays

5 Diseases and Phenotypes

5.1 KEGG Diseases

5.2 OMIM Phenotypes

5.3 MedGen Diseases

5.4 Gene-Disease Associations

6 Interactions and Pathways

6.1 Chemical-Gene Interactions

GlycoGene Database (GGDB): https://acgg.asia/db/ggdb

6.2 Interactions

6.3 Pathways

7 Biochemical Reactions

8 Expression

9 Target Development Level

10 Literature

10.1 Consolidated References

10.2 Gene-Chemical Co-Occurrences in Literature

10.3 Gene-Gene Co-Occurrences in Literature

10.4 Gene-Disease Co-Occurrences in Literature

11 Patents

11.1 Gene-Chemical Co-Occurrences in Patents

11.2 Gene-Gene Co-Occurrences in Patents

11.3 Gene-Disease Co-Occurrences in Patents

12 Classification

12.1 Gene Ontology: Biological Process

12.2 Gene Ontology: Cellular Component

12.3 Gene Ontology: Molecular Function

13 Information Sources

  1. NCBI Gene
    LICENSE
    NCBI Website and Data Usage Policies and Disclaimers
    https://www.ncbi.nlm.nih.gov/home/about/policies/
  2. PubChem
  3. Alliance of Genome Resources
    LICENSE
    All annotations and data produced by Alliance members that are accessible from alliancegenome.org are distributed under a CC BY 4.0 license (https://creativecommons.org/licenses/by/4.0/).
    https://www.alliancegenome.org/privacy-warranty-licensing
  4. BioGRID
    LICENSE
    The MIT License (MIT); Copyright Mike Tyers Lab
    https://wiki.thebiogrid.org/doku.php/terms_and_conditions
  5. Database of Interacting Proteins (DIP)
    LICENSE
    All DIP database records available under the terms set by the Creative Commons Attribution-NoDerivs License.
    https://dip.doe-mbi.ucla.edu/dip/termsofuse.html
  6. STRING: functional protein association networks
  7. Comparative Toxicogenomics Database (CTD)
    LICENSE
    It is to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of NC State University.
    http://ctdbase.org/about/legal.jsp
  8. GlyCosmos Glycoscience Portal
    LICENSE
    All copyrightable parts of the datasets in GlyCosmos are under the Creative Commons Attribution (CC BY 4.0) License.
    https://glycosmos.org/license
  9. Open Targets
    LICENSE
    Datasets generated by the Open Targets Platform are freely available for download.
    https://platform-docs.opentargets.org/licence
  10. Gene Curation Coalition (GenCC)
    LICENSE
    The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication.
    https://thegencc.org/terms.html
    B4GAT1
  11. HUGO Gene Nomenclature Committee (HGNC)
    LICENSE
    No restrictions are imposed on access to, or use of, the data provided by the HGNC, which are provided to enhance knowledge and encourage progress in the scientific community.
    https://www.genenames.org/about/
  12. KEGG
    LICENSE
    Academic users may freely use the KEGG website. Non-academic use of KEGG generally requires a commercial license
    https://www.kegg.jp/kegg/legal.html
  13. NCBI Gene Expression Omnibus (GEO)
  14. NCBI MedGen
    LICENSE
    NCBI Website and Data Usage Policies and Disclaimers
    https://www.ncbi.nlm.nih.gov/home/about/policies/
  15. Online Mendelian Inheritance in Man (OMIM)
    LICENSE
    The OMIM database is made available to the general public subject to certain restrictions.
    https://omim.org/help/copyright
  16. PharmGKB
    LICENSE
    PharmGKB data are subject to the Creative Commons Attribution-ShareALike 4.0 license (https://creativecommons.org/licenses/by-sa/4.0/).
    https://www.pharmgkb.org/page/policies
  17. Pharos
    LICENSE
    Data accessed from Pharos and TCRD is publicly available from the primary sources listed above. Please respect their individual licenses regarding proper use and redistribution.
    https://pharos.nih.gov/about
  18. Swiss Institute of Bioinformatics Bgee
    LICENSE
    Creative Commons Zero license (CC0)
    https://www.bgee.org/about/
  19. UniProt
    LICENSE
    We have chosen to apply the Creative Commons Attribution (CC BY 4.0, http://creativecommons.org/licenses/by/4.0/) License to all copyrightable parts of our databases.
    https://www.uniprot.org/help/license
  20. VEuPathDB: The Eukaryotic Pathogen, Vector and Host Informatics Resource
    LICENSE
    All data on VEuPathDB websites are provided freely for public use.
    https://veupathdb.org/veupathdb/app/static-content/about.html
  21. Wikidata
  22. Gene Ontology (GO)
    LICENSE
    Gene Ontology Consortium data and data products are licensed under the Creative Commons Attribution 4.0 Unported License (https://creativecommons.org/licenses/by/4.0/legalcode)
    http://geneontology.org/docs/go-citation-policy/
  23. AlphaFold DB
    LICENSE
    All of the data provided is freely available for both academic and commercial use under Creative Commons Attribution 4.0 (CC-BY 4.0) licence terms.
    https://alphafold.ebi.ac.uk/faq
  24. Rhea - annotated reactions database
    LICENSE
    Rhea has chosen to apply the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/). This means that you are free to copy, distribute, display and make commercial use of the database in all legislations, provided you credit (cite) Rhea.
    https://www.rhea-db.org/help/license-disclaimer
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