B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B4GALNT3provided by HGNC
Official Full Name: beta-1,4-N-acetyl-galactosaminyltransferase 3provided by HGNC
Primary source: HGNC:HGNC:24137
See related: Ensembl:ENSG00000139044 MIM:612220; AllianceGenome:HGNC:24137
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]
Expression: Biased expression in stomach (RPKM 33.1), colon (RPKM 16.3) and 11 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.33

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (459939..563509)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (455476..559474)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (569105..672675)

Chromosome 12 - NC_000012.12 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: 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?

Identify a new chimeric transcript generated by the fusion of WNK1 and B4GALNT3 genes, correlated with B4GALNT3 overexpression papillary thyroid carcinoma.
Title: New somatic mutations and WNK1-B4GALNT3 gene fusion in papillary thyroid carcinoma.
Data suggest B4GALNT3 regulates cancer stemness and the invasive properties of colon cancer cells through modifying EGFR glycosylation and signaling.
Title: β1, 4-N-acetylgalactosaminyltransferase III modulates cancer stemness through EGFR signaling pathway in colon cancer cells.
Peptide-specific transfer of N-acetylgalactosamine to O-linked glycans by the glycosyltransferases beta1,4-N-acetylgalactosaminyl transferase 3 (beta4GalNAc-T3) and beta4GalNAc-T4.
Title: Peptide-specific transfer of N-acetylgalactosamine to O-linked glycans by the glycosyltransferases β1,4-N-acetylgalactosaminyl transferase 3 (β4GalNAc-T3) and β4GalNAc-T4.
Molecular basis for protein-specific transfer of N-acetylgalactosamine to N-linked glycans by the glycosyltransferases beta1,4-N-acetylgalactosaminyl transferase 3 (beta4GalNAc-T3) and beta4GalNAc-T4.
Title: Molecular basis for protein-specific transfer of N-acetylgalactosamine to N-linked glycans by the glycosyltransferases β1,4-N-acetylgalactosaminyl transferase 3 (β4GalNAc-T3) and β4GalNAc-T4.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest.
supra-nuclear expression of beta4GalNAc-T3 is essential for the formation of LacdiNAc on the surface mucous cells and that LacdiNAc and beta4GalNAc-T3 are novel differentiation markers of surface mucous cells in the gastric mucosa.
Title: Apical Golgi localization of N,N'-diacetyllactosediamine synthase, beta4GalNAc-T3, is responsible for LacdiNAc expression on gastric mucosa.
betaGT3 and betaGT4, that are able to transfer GalNAc to GlcNAc in beta1,4-linkage display the necessary glycoprotein specificity in vivo.
Title: A necessary and sufficient determinant for protein-selective glycosylation in vivo.
up-regulation of beta4GalNAc-T3 may play a critical role in promoting tumor malignanc
Title: Beta1,4-N-acetylgalactosaminyltransferase III enhances malignant phenotypes of colon cancer 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-152167 (e-PCR)
- UniSTS:177423

SHGC-151131 (e-PCR)
- UniSTS:173359

SHGC-79880 (e-PCR)
- UniSTS:101452

G41229 (e-PCR)
- UniSTS:68710

RH93158 (e-PCR)
- UniSTS:91784

D12S994 (e-PCR)
- UniSTS:149945

D12S352 (e-PCR), detects polymorphism
- UniSTS:72914

RH47453 (e-PCR)
- UniSTS:23022

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	IEA Inferred from Electronic Annotation more info
enables acetylgalactosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylgalactosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: beta-1,4-N-acetylgalactosaminyltransferase 3

Names: B4GalNAcT3; Beta4GalNAc-T3; N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase; N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2; NGalNAc-T2; beta-1,4-N-acetyl-galactosaminyl transferase 3; beta-1,4-N-acetylgalactosaminyltransferase III; beta4GalNAcT3

NP_775864.3

EC 2.4.1.244

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.

mRNA and Protein(s)

NM_173593.4 → NP_775864.3 beta-1,4-N-acetylgalactosaminyltransferase 3

See identical proteins and their annotated locations for NP_775864.3

Status: VALIDATED

Source sequence(s)

AB089940, AC005844, AC006205, AK093503, AK131277, CN400443

Consensus CDS

CCDS8504.1

UniProtKB/Swiss-Prot

Q6L9W6, Q6ZNC1, Q8N7T6

Related

ENSP00000266383.5, ENST00000266383.10

Conserved Domains (2) summary

pfam07691
Location:143 → 277

PA14; PA14 domain

cl11394
Location:788 → 984

Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold