B3GNT3 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B3GNT3provided by HGNC
Official Full Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3provided by HGNC
Primary source: HGNC:HGNC:13528
See related: Ensembl:ENSG00000179913 MIM:605863; AllianceGenome:HGNC:13528
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: TMEM3; B3GN-T3; B3GNT-3; HP10328; B3GAL-T8; beta3Gn-T3
Summary: This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008]
Expression: Biased expression in colon (RPKM 28.2), stomach (RPKM 18.5) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (17794791..17813576)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (17928853..17947690)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (17905947..17924385)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The role of B3GNT3 as an oncogene in the growth, invasion and migration of esophageal cancer cells.
Title: The role of B3GNT3 as an oncogene in the growth, invasion and migration of esophageal cancer cells.
Upregulation of B3GNT3 is associated with immune infiltration and activation of NF-kappaB pathway in gynecologic cancers.
Title: Upregulation of B3GNT3 is associated with immune infiltration and activation of NF-κB pathway in gynecologic cancers.
Study on the Expression of beta-1,3-N-acetylglucosaminyltransferase 3 in Gastric Cancer and the Mechanism Promoting Gastric Cancer Progression Based on the Extraction Method of Nanomagnetic Beads.
Title: Study on the Expression of β-1,3-N-acetylglucosaminyltransferase 3 in Gastric Cancer and the Mechanism Promoting Gastric Cancer Progression Based on the Extraction Method of Nanomagnetic Beads.
B3GNT3 acts as a carcinogenic factor in endometrial cancer via facilitating cell growth, invasion and migration through regulating RhoA/RAC1 pathway-associated markers.
Title: B3GNT3 acts as a carcinogenic factor in endometrial cancer via facilitating cell growth, invasion and migration through regulating RhoA/RAC1 pathway-associated markers.
B3GNT3 overexpression promotes tumor progression and inhibits infiltration of CD8(+) T cells in pancreatic cancer.
Title: B3GNT3 overexpression promotes tumor progression and inhibits infiltration of CD8(+) T cells in pancreatic cancer.
These results indicate that elevated GALNT3 and B3GNT3 expression in PCSCs regulate stemness through modulating CSC markers.
Title: Novel role of O-glycosyltransferases GALNT3 and B3GNT3 in the self-renewal of pancreatic cancer stem cells.
This study demonstrated that elevated B3GNT3 expression is associated with pelvic lymph node metastasis and poor outcome in early-stage cervical cancer patients.
Title: B3GNT3 Expression Is a Novel Marker Correlated with Pelvic Lymph Node Metastasis and Poor Clinical Outcome in Early-Stage Cervical Cancer.
B3GNT3 predicts a favorable cancer behavior of neuroblastoma and suppresses malignant phenotypes by modulating mucin-type O-glycosylation and signaling in neuroblastoma cells.
Title: B3GNT3 expression suppresses cell migration and invasion and predicts favorable outcomes in neuroblastoma.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.
Observational study of gene-disease association. (HuGE Navigator)
Title: L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms.

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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

EBI GWAS Catalog

Description
A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and &#x000ce;&#x000b1; fetoprotein and their associations with cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-152107 (e-PCR)
- UniSTS:182798

NoName (e-PCR)
- UniSTS:482073

A009H37 (e-PCR)
- UniSTS:23639

D19S386 (e-PCR)
- UniSTS:148329

G32554 (e-PCR)
- UniSTS:117138

G32565 (e-PCR)
- UniSTS:117149

SHGC-151107 (e-PCR)
- UniSTS:173281

D19S915 (e-PCR)
- UniSTS:8418

A009I31 (e-PCR)
- UniSTS:35056

WI-17661 (e-PCR)
- UniSTS:15089

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 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	TAS Traceable Author Statement more info
enables beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in O-glycan processing	TAS Traceable Author Statement more info
involved_in keratan sulfate biosynthetic process	TAS Traceable Author Statement more info
involved_in poly-N-acetyllactosamine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in poly-N-acetyllactosamine biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
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 plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3

Names: UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 8; UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 8; beta-1,3-GalTase 8; beta-1,3-Gn-T3; beta-1,3-N-acetylglucosaminyltransferase bGnT-3; beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase; beta-3-Gx-T8; beta3GalT8; core 1 extending beta-1,3-N-acetylglucosaminyltransferase; core1-beta3GlcNAcT; putative type II membrane protein; transmembrane protein 3

NP_055071.2

EC 2.4.1.146

EC 2.4.1.149

XP_011525928.1

EC 2.4.1.146

EC 2.4.1.149

XP_047293998.1

EC 2.4.1.146

EC 2.4.1.149

XP_054175489.1

EC 2.4.1.146

EC 2.4.1.149

XP_054175490.1

EC 2.4.1.146

EC 2.4.1.149

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.

Genomic

NG_028981.1 RefSeqGene

Range

5029..23467

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_014256.4 → NP_055071.2 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3

See identical proteins and their annotated locations for NP_055071.2

Status: REVIEWED

Source sequence(s)

AB015630, AB049585, AW848963, DA385410, DB104034

Consensus CDS

CCDS12364.1

UniProtKB/Swiss-Prot

B2RAS4, Q6NWU9, Q6NXU9, Q8WWR6, Q9C0J2, Q9Y2A9

UniProtKB/TrEMBL

B3KQT5

Related

ENSP00000321874.5, ENST00000318683.7

Conserved Domains (1) summary

cl21608
Location:122 → 311

Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

17794791..17813576

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011527626.3 → XP_011525928.1 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 isoform X1

See identical proteins and their annotated locations for XP_011525928.1

UniProtKB/Swiss-Prot

B2RAS4, Q6NWU9, Q6NXU9, Q8WWR6, Q9C0J2, Q9Y2A9

UniProtKB/TrEMBL

B3KQT5

Conserved Domains (1) summary

cl21608
Location:122 → 311

Galactosyl_T; Galactosyltransferase
XM_047438042.1 → XP_047293998.1 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 isoform X1

UniProtKB/Swiss-Prot

B2RAS4, Q6NWU9, Q6NXU9, Q8WWR6, Q9C0J2, Q9Y2A9

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

17928853..17947690

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054319514.1 → XP_054175489.1 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 isoform X1
XM_054319515.1 → XP_054175490.1 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 isoform X1