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B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 [ Homo sapiens (human) ]

Gene ID: 79369, updated on 4-Jun-2020

Summary

Official Symbol
B3GNT4provided by HGNC
Official Full Name
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4provided by HGNC
Primary source
HGNC:HGNC:15683
See related
Ensembl:ENSG00000176383 MIM:605864
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
B3GN-T4; beta3Gn-T4
Summary
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 5.5), kidney (RPKM 3.8) and 25 other tissues See more
Orthologs

Genomic context

See B3GNT4 in Genome Data Viewer
Location:
12q24.31
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (122203681..122208952)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (122688228..122692677)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene MLX interacting protein Neighboring gene leucine rich repeat containing 43 Neighboring gene interleukin 31 Neighboring gene diablo IAP-binding mitochondrial protein Neighboring gene Sharpr-MPRA regulatory region 2179 Neighboring gene uncharacterized LOC101593348

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
poly-N-acetyllactosamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
poly-N-acetyllactosamine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
protein glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4
Names
BGnT-4
beta-1,3-Gn-T4
beta-1,3-N-acetylglucosaminyltransferase 4
beta-1,3-N-acetylglucosaminyltransferase bGn-T4
NP_001317421.1
NP_110392.1

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001330492.1NP_001317421.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AK095746, AY358940, BC031399, BX108933, DA522540
    Consensus CDS
    CCDS81751.1
    UniProtKB/Swiss-Prot
    Q9C0J1
    Related
    ENSP00000438840.1, ENST00000546192.1
  2. NM_030765.4NP_110392.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 isoform 1

    See identical proteins and their annotated locations for NP_110392.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC048338
    Consensus CDS
    CCDS9227.1
    UniProtKB/Swiss-Prot
    Q9C0J1
    UniProtKB/TrEMBL
    A0A024RBT1
    Related
    ENSP00000319636.4, ENST00000324189.5
    Conserved Domains (1) summary
    cl21608
    Location:132321
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    122203681..122208952
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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