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

Gene ID: 10331, updated on 21-Mar-2023

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
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Genomic context

See B3GNT3 in Genome Data Viewer
Location:
19p13.11
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (17794791..17813576)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (17928853..17947690)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17905947..17924385)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904649 Neighboring gene Sharpr-MPRA regulatory region 7159 Neighboring gene FCH and mu domain containing endocytic adaptor 1 Neighboring gene insulin like 3 Neighboring gene Janus kinase 3

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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 IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 

General protein information

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
XP_011525928.1
XP_047293998.1
XP_054175489.1
XP_054175490.1

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

  1. NG_028981.1 RefSeqGene

    Range
    5029..23467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014256.4NP_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
    Q9C0J2, Q9Y2A9
    Related
    ENSP00000321874.5, ENST00000318683.7
    Conserved Domains (1) summary
    cl21608
    Location:122311
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    17794791..17813576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527626.3XP_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
    Q9C0J2, Q9Y2A9
    Conserved Domains (1) summary
    cl21608
    Location:122311
    Galactosyl_T; Galactosyltransferase
  2. XM_047438042.1XP_047293998.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 isoform X1

    UniProtKB/Swiss-Prot
    Q9C0J2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    17928853..17947690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_054319515.1XP_054175490.1  N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 3 isoform X1