A4GNT alpha-1,4-N-acetylglucosaminyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: A4GNTprovided by HGNC
Official Full Name: alpha-1,4-N-acetylglucosaminyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:17968
See related: Ensembl:ENSG00000118017 MIM:616709; AllianceGenome:HGNC:17968
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: alpha4GnT
Summary: This gene encodes a protein from the glycosyltransferase 32 family. The enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to core 2 branched O-glycans. It forms a unique glycan, GlcNAcalpha1-->4Galbeta-->R and is largely associated with the Golgi apparatus membrane. [provided by RefSeq, Jul 2008]
Expression: Biased expression in stomach (RPKM 9.5), duodenum (RPKM 0.9) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 3q22.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (138123713..138133302, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (140864300..140873888, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (137842555..137851232, complement)

Chromosome 3 - NC_000003.12 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?

human alpha1,4-N-acetylglucosaminyltransferase (alpha4GnT) is responsible for O-glycan biosynthesis and has a role in preventing gastric cancer by inhibiting H. pylori infection and also suppressing tumor-promoting inflammation
Title: Essential role of gastric gland mucin in preventing gastric cancer in mice.
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 of gene-disease association. (HuGE Navigator)
Title: Genetic variation in a4GnT in relation to Helicobacter pylori serology and gastric cancer risk.
Up-regulation of alpha-1,4-N-acetylglucosaminyltransferase is associated with pancreatic cancer
Title: Clinical utility of quantitative RT-PCR targeted to alpha1,4-N-acetylglucosaminyltransferase mRNA for detection of pancreatic cancer.

Submit: New GeneRIF Correction

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

PMC17720P1 (e-PCR)
- UniSTS:271645

A4GNT_9671 (e-PCR)
- UniSTS:468267

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylglucosaminyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables acetylglucosaminyltransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in O-glycan processing	TAS Traceable Author Statement more info
involved_in carbohydrate metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within glycoprotein biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of epithelial cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in protein O-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: alpha-1,4-N-acetylglucosaminyltransferase

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_016161.3 → NP_057245.1 alpha-1,4-N-acetylglucosaminyltransferase

See identical proteins and their annotated locations for NP_057245.1

Status: REVIEWED

Source sequence(s)

AC023049

Consensus CDS

CCDS3097.1

UniProtKB/Swiss-Prot

Q0VDK1, Q0VDK2, Q9UNA3

Related

ENSP00000236709.3, ENST00000236709.4

Conserved Domains (2) summary

pfam04488
Location:64 → 182

Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif

pfam04572
Location:201 → 321

Gb3_synth; Alpha 1,4-glycosyltransferase conserved region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

138123713..138133302 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017006544.2 → XP_016862033.1 alpha-1,4-N-acetylglucosaminyltransferase isoform X1

UniProtKB/Swiss-Prot

Q0VDK1, Q0VDK2, Q9UNA3

Conserved Domains (2) summary

pfam04488
Location:64 → 182

Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif

pfam04572
Location:201 → 321

Gb3_synth; Alpha 1,4-glycosyltransferase conserved region
XM_017006543.3 → XP_016862032.1 alpha-1,4-N-acetylglucosaminyltransferase isoform X1

UniProtKB/Swiss-Prot

Q0VDK1, Q0VDK2, Q9UNA3

Conserved Domains (2) summary

pfam04488
Location:64 → 182

Gly_transf_sug; Glycosyltransferase sugar-binding region containing DXD motif

pfam04572
Location:201 → 321

Gb3_synth; Alpha 1,4-glycosyltransferase conserved region

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

140864300..140873888 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054346723.1 → XP_054202698.1 alpha-1,4-N-acetylglucosaminyltransferase isoform X1

UniProtKB/Swiss-Prot

Q0VDK1, Q0VDK2, Q9UNA3
XM_054346722.1 → XP_054202697.1 alpha-1,4-N-acetylglucosaminyltransferase isoform X1

UniProtKB/Swiss-Prot

Q0VDK1, Q0VDK2, Q9UNA3