Homo sapiens Gene: B3GNT1 | |||||||||||||||||||
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Summary | |||||||||||||||||||
InnateDB Gene | IDBG-58923.6 | ||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
Gene Symbol | B3GNT1 | ||||||||||||||||||
Gene Name | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 | ||||||||||||||||||
Synonyms | B3GN-T1; B3GNT6; BETA3GNTI; iGAT; iGNT; MDDGA13 | ||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||
Ensembl Gene | ENSG00000174684 | ||||||||||||||||||
Encoded Proteins |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
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Protein Structure | |||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
Entrez Gene | |||||||||||||||||||
Summary |
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] |
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Gene Information | |||||||||||||||||||
Type | Protein coding | ||||||||||||||||||
Genomic Location | Chromosome 11:66345372-66347692 | ||||||||||||||||||
Strand | Reverse strand | ||||||||||||||||||
Band | q13.2 | ||||||||||||||||||
Transcripts |
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Interactions | |||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||
Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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Pathways | |||||||||||||||||||
NETPATH | |||||||||||||||||||
REACTOME |
Keratan sulfate biosynthesis pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
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KEGG |
Glycosphingolipid biosynthesis pathway
Glycosaminoglycan biosynthesis pathway
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INOH | |||||||||||||||||||
PID NCI | |||||||||||||||||||
Cross-References | |||||||||||||||||||
SwissProt | O43505 | ||||||||||||||||||
TrEMBL | A0A024R5F9 B4DGI0 | ||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||
Entrez Gene | 11041 | ||||||||||||||||||
UniGene | Hs.730314 Hs.8526 | ||||||||||||||||||
RefSeq | NM_006876 | ||||||||||||||||||
HUGO | HGNC:15685 | ||||||||||||||||||
OMIM | 605517 | ||||||||||||||||||
CCDS | CCDS8136 | ||||||||||||||||||
HPRD | |||||||||||||||||||
IMGT | |||||||||||||||||||
EMBL | AF029893 AK294604 BC021965 CH471076 DQ066422 | ||||||||||||||||||
GenPept | AAC39538 AAH21965 AAY46155 BAG57791 EAW74517 EAW74518 | ||||||||||||||||||
RNA Seq Atlas | 11041 | ||||||||||||||||||