B4GALNT4 beta-1,4-N-acetyl-galactosaminyltransferase 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: B4GALNT4provided by HGNC
Official Full Name: beta-1,4-N-acetyl-galactosaminyltransferase 4provided by HGNC
Primary source: HGNC:HGNC:26315
See related: Ensembl:ENSG00000182272 MIM:618560; AllianceGenome:HGNC:26315
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: Enables acetylgalactosaminyltransferase activity. Predicted to be located in Golgi cisterna membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in brain (RPKM 7.9), ovary (RPKM 4.2) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.5

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (369499..382117)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (413966..426440)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (369499..382117)

Chromosome 11 - NC_000011.10 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?

Expression and Malignant Potential of B4GALNT4 in Esophageal Squamous Cell Carcinoma.
Title: Expression and Malignant Potential of B4GALNT4 in Esophageal Squamous Cell Carcinoma.
These results indicate that the expression of the LacdiNAc group is quite important for the suppression of malignancies of the MDA-MB-231 cells.
Title: Enhanced expression of the β4-N-acetylgalactosaminyltransferase 4 gene impairs tumor growth of human breast 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.
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.
molecular cloning and characterization; specificity toward oligosaccharide acceptor substrates was quite similar to beta4GalNAc-T3 in vitro but the tissue distributions of the two enzymes were quite different
Title: Molecular cloning and characterization of beta1,4-N-acetylgalactosaminyltransferases IV synthesizing N,N'-diacetyllactosediamine.

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

Homologs of the B4GALNT4 gene: The B4GALNT4 gene is conserved in chimpanzee, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 302 organisms have orthologs with human gene B4GALNT4
Orthologs

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	PubMed
enables acetylgalactosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi cisterna membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1

Names: N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase; NGalNAc-T1; beta-1,4-N-acetyl-galactosaminyl transferase 4; beta-1,4-N-acetylgalactosaminyltransferase IV; beta1,4-N-acetylgalactosaminyltransferases IV; beta4GalNAc-T4; beta4GalNAcT4; betaGT4

NP_848632.2

EC 2.4.1.244

XP_016873143.1

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_178537.5 → NP_848632.2 N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 1

See identical proteins and their annotated locations for NP_848632.2

Status: VALIDATED

Source sequence(s)

AB089939, AC138230, BF058197, CN348077

Consensus CDS

CCDS7694.1

UniProtKB/Swiss-Prot

Q76KP1, Q96LV2

Related

ENSP00000328277.6, ENST00000329962.11

Conserved Domains (2) summary

cl08459
Location:142 → 263

PA14; PA14 domain

cl11394
Location:711 → 1020

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