Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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192134
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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B3GNT6 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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B3Gn-T6, BGnT-6, beta-1,3-Gn-T6, beta3Gn-T6 |
Chromosome
Chromosome number
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11 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q13.5 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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, |
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 |
|
Tissue specificity |
TISSUE SPECIFICITY: Present in stomach and colon (at protein level). Restricted in the stomach, colon and small intestine, where core 3 structure is present. {ECO:0000269|PubMed:15755813}. |
Sequence |
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Sequence length |
384 |
Interactions |
View interactions
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Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia, Childhood |
rs13447324, 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 View all (12 more) |
26508570 |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
33253272 |
Carcinogenesis |
Associate
|
33253272 |
Carcinoma Pancreatic Ductal |
Associate
|
33253272 |
Chromosomal Instability |
Associate
|
35387659 |
Colorectal Neoplasms |
Associate
|
24189147, 36855796 |
Colorectal Neoplasms |
Inhibit
|
35387659 |
Neoplasm Metastasis |
Inhibit
|
23754791 |
Neoplasm Metastasis |
Associate
|
36855796 |
Neoplasms |
Inhibit
|
23754791 |
Neoplasms |
Associate
|
24189147 |
Pancreatic Neoplasms |
Associate
|
23754791 |
Smoke Inhalation Injury |
Associate
|
31568004 |
Uterine Cervical Dysplasia |
Associate
|
33253272 |
Zinc Deficiency Neonatal due to Low Breast Milk Zinc |
Stimulate
|
32858966 |
|