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B3GNT6 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 [ Homo sapiens (human) ]

Gene ID: 192134, updated on 10-Dec-2019

Summary

Official Symbol
B3GNT6provided by HGNC
Official Full Name
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6provided by HGNC
Primary source
HGNC:HGNC:24141
See related
Ensembl:ENSG00000198488 MIM:615315
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
BGnT-6; B3Gn-T6; beta3Gn-T6; beta-1,3-Gn-T6
Summary
The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]
Expression
Biased expression in colon (RPKM 17.5), stomach (RPKM 11.9) and 4 other tissues See more
Orthologs

Genomic context

See B3GNT6 in Genome Data Viewer
Location:
11q13.5
Exon count:
2
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (77034398..77041973)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76745385..76753020)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928837 Neighboring gene tsukushi, small leucine rich proteoglycan Neighboring gene alkaline ceramidase 3 Neighboring gene Sharpr-MPRA regulatory region 1403 Neighboring gene uncharacterized LOC105369399 Neighboring gene uncharacterized LOC105369400

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?

Pathways from BioSystems

General gene information

Markers

Homology

Clone Names

  • MGC119334, MGC119336, MGC119337

Gene Ontology Provided by GOA

Process Evidence Code Pubs
O-glycan processing TAS
Traceable Author Statement
more info
 
O-glycan processing, core 3 NAS
Non-traceable Author Statement
more info
PubMed 
glycoprotein biosynthetic process NAS
Non-traceable Author Statement
more info
PubMed 
poly-N-acetyllactosamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein O-linked glycosylation IBA
Inferred from Biological aspect of Ancestor
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
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase
Names
beta-1,3-N-acetylglucosaminyltransferase 6
beta-1,3-N-acetylglucosaminyltransferase protein
core 3 synthase
NP_619651.3

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.

Genomic

  1. NG_053138.1 RefSeqGene

    Range
    5058..12633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_138706.5NP_619651.3  acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase

    See identical proteins and their annotated locations for NP_619651.3

    Status: REVIEWED

    Source sequence(s)
    AK127544, BC025357, BC103908, CD636501, DA439499
    Consensus CDS
    CCDS53681.1
    UniProtKB/Swiss-Prot
    Q6ZMB0
    UniProtKB/TrEMBL
    A8K9Q8
    Related
    ENSP00000484640.1, ENST00000622824.1
    Conserved Domains (1) summary
    cl21608
    Location:131323
    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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    77034398..77041973
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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