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B3GNT6 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
192134
Gene nameGene Name - the full gene name approved by the HGNC.
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
B3GNT6
SynonymsGene synonyms aliases
B3Gn-T6, BGnT-6, beta-1,3-Gn-T6, beta3Gn-T6
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.5
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans,
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs781821239 C>G,T Likely-pathogenic Missense variant, coding sequence variant, synonymous variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT613466 hsa-miR-3614-5p HITS-CLIP 23824327
MIRT613465 hsa-miR-6500-3p HITS-CLIP 23824327
MIRT613464 hsa-miR-3909 HITS-CLIP 23824327
MIRT613463 hsa-miR-6852-3p HITS-CLIP 23824327
MIRT613462 hsa-miR-548aw HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0006486 Process Protein glycosylation IBA 21873635
GO:0008375 Function Acetylglucosaminyltransferase activity IBA 21873635
GO:0008376 Function Acetylgalactosaminyltransferase activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q6ZMB0
Protein name Acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase (EC 2.4.1.147) (Core 3 synthase) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6) (BGnT-6) (Beta-1,3-Gn-T6) (Beta-1,3-N-acetylglucosaminyltransferase 6) (
Protein function Beta-1,3-N-acetylglucosaminyltransferase that synthesizes the core 3 structure of the O-glycan, an important precursor in the biosynthesis of mucin-type glycoproteins. Plays an important role in the synthesis of mucin-type O-glycans in digestive
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01762 Galactosyl_T
131 327
Galactosyltransferase
Family
Sequence
MAFPCRRSLTAKTLACLLVGVSFLALQQWFLQAPRSPREERSPQEETPEGPTDAPAADEP
PSELVPGPPCVANASANATADFEQLPARIQDFLRYRHCRHFPLLWDAPAKCAGGRGVFLL
LAVKSAPEHYERRELIRRTWGQERSYGGRPVRRLFLLGTPGPEDEARAERLAELVALEAR
EHGDVLQWAFADTFLNLTLKHLHLLDWLAARCPHARFLLSGDDDVFVHTANVVRFLQAQP
PGRHLFSGQLMEGSVPIRDSWSKYFVPPQLFPGSAYPVYCSGGGFLLSGPTARALRAAAR
HTPLFPIDDAYMGMCLERAGLAPSGHE
GIRPFGVQLPGAQQSSFDPCMYRELLLVHRFAP
YEMLLMWKALHSPALSCDRGHRVS
Sequence length 384
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Mucin type O-glycan biosynthesis
Metabolic pathways
  O-linked glycosylation of mucins
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia, Childhood rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 26508570

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