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

Gene ID: 192134, updated on 8-Dec-2022

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; AllianceGenome:HGNC:24141
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
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Genomic context

See B3GNT6 in Genome Data Viewer
Location:
11q13.5
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (77034398..77041973)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (76964751..76972335)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (76745442..76753020)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr11.4478 Neighboring gene alkaline ceramidase 3 Neighboring gene Sharpr-MPRA regulatory region 1403 Neighboring gene uncharacterized LOC124902721 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?

General gene information

Markers

Homology

Clone Names

  • MGC119334, MGC119336, MGC119337

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)

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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_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, Q8TDX1
    UniProtKB/TrEMBL
    A8K9Q8
    Related
    ENSP00000484640.1, ENST00000622824.1
    Conserved Domains (1) summary
    cl21608
    Location:131323
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    76964751..76972335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)