B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B3GNT6provided by HGNC
Official Full Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6provided by HGNC
Primary source: HGNC:HGNC:24141
See related: Ensembl:ENSG00000198488 MIM:615315; AllianceGenome:HGNC:24141
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BGnT-6; B3Gn-T6; beta3Gn-T6; beta-1,3-Gn-T6
Summary: 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, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]
Expression: Biased expression in colon (RPKM 17.5), stomach (RPKM 11.9) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.5

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (77034398..77041973)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (76964751..76972335)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (76745442..76753020)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of B3GNT6 is a predictor of poor outcomes in patients with colorectal cancer.
Title: Downregulation of B3GNT6 is a predictor of poor outcomes in patients with colorectal cancer.
Clinicopathological significance of core 3 O-glycan synthetic enzyme, beta1,3-N-acetylglucosaminyltransferase 6 in pancreatic ductal adenocarcinoma.
Title: Clinicopathological significance of core 3 O-glycan synthetic enzyme, β1,3-N-acetylglucosaminyltransferase 6 in pancreatic ductal adenocarcinoma.
alpha2beta1 integrin acquired core3 O-glycans in cells expressing core3 synthase with decreased maturation of beta1 integrin, leading to decreased levels of the alpha2beta1 integrin complex
Title: Core3 O-glycan synthase suppresses tumor formation and metastasis of prostate carcinoma PC3 and LNCaP cells through down-regulation of alpha2beta1 integrin complex.
expression was markedly down-regulated in gastric and colorectal carcinomas
Title: Core 3 synthase is down-regulated in colon carcinoma and profoundly suppresses the metastatic potential of carcinoma cells.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484110

D15S1477 (e-PCR)
- UniSTS:474482

L17791 (e-PCR)
- UniSTS:42740

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	TAS Traceable Author Statement more info
enables UDP-glycosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	IEA Inferred from Electronic Annotation more info
enables beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	NAS Non-traceable Author Statement more info	PubMed
enables galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables galactosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in O-glycan processing	TAS Traceable Author Statement more info
involved_in core 3 O-glycan biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in glycoprotein biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in poly-N-acetyllactosamine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in Golgi membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase

Names: beta-1,3-N-acetylglucosaminyltransferase 6; beta-1,3-N-acetylglucosaminyltransferase protein; core 3 synthase

NP_619651.3

EC 2.4.1.147

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.