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B4GALNT3 beta-1,4-N-acetyl-galactosaminyltransferase 3 [ Homo sapiens (human) ]

Gene ID: 283358, updated on 25-Jan-2022

Summary

Official Symbol
B4GALNT3provided by HGNC
Official Full Name
beta-1,4-N-acetyl-galactosaminyltransferase 3provided by HGNC
Primary source
HGNC:HGNC:24137
See related
Ensembl:ENSG00000139044 MIM:612220; AllianceGenome:HGNC:24137
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]
Expression
Biased expression in stomach (RPKM 33.1), colon (RPKM 16.3) and 11 other tissues See more
Orthologs
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Genomic context

See B4GALNT3 in Genome Data Viewer
Location:
12p13.33
Exon count:
20
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (459939..563509)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (569105..672675)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369594 Neighboring gene Sharpr-MPRA regulatory region 4380 Neighboring gene coiled-coil domain containing 77 Neighboring gene uncharacterized LOC105369595 Neighboring gene ninjurin 2 Neighboring gene RNA, U7 small nuclear 103 pseudogene

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: CCDC77

Homology

Clone Names

  • FLJ16224, FLJ40362

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
beta-1,4-N-acetylgalactosaminyltransferase 3
Names
B4GalNAcT3
Beta4GalNAc-T3
N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N- acetylgalactosaminyltransferase
N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2
NGalNAc-T2
beta-1,4-N-acetyl-galactosaminyl transferase 3
beta-1,4-N-acetylgalactosaminyltransferase III
beta4GalNAcT3
NP_775864.3

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.

mRNA and Protein(s)

  1. NM_173593.4NP_775864.3  beta-1,4-N-acetylgalactosaminyltransferase 3

    See identical proteins and their annotated locations for NP_775864.3

    Status: VALIDATED

    Source sequence(s)
    AB089940, AC005844, AC006205, AK093503, AK131277, CN400443
    Consensus CDS
    CCDS8504.1
    UniProtKB/Swiss-Prot
    Q6L9W6
    UniProtKB/TrEMBL
    Q8N9V0
    Related
    ENSP00000266383.5, ENST00000266383.10
    Conserved Domains (2) summary
    pfam07691
    Location:143277
    PA14; PA14 domain
    cl11394
    Location:788984
    Glyco_tranf_GTA_type; Glycosyltransferase family A (GT-A) includes diverse families of glycosyl transferases with a common GT-A type structural fold

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    459939..563509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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