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B3GALT6 beta-1,3-galactosyltransferase 6 [ Homo sapiens (human) ]

Gene ID: 126792, updated on 11-Sep-2019

Summary

Official Symbol
B3GALT6provided by HGNC
Official Full Name
beta-1,3-galactosyltransferase 6provided by HGNC
Primary source
HGNC:HGNC:17978
See related
Ensembl:ENSG00000176022 MIM:615291
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
EDSP2; EDSSPD2; SEMDJL1; beta3GalT6
Summary
The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]
Orthologs

Genomic context

See B3GALT6 in Genome Data Viewer
Location:
1p36.33
Exon count:
1
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (1232237..1235041)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1167629..1170421)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene TNF receptor superfamily member 4 Neighboring gene stromal cell derived factor 4 Neighboring gene C1q and TNF related 12 Neighboring gene ubiquitin conjugating enzyme E2 J2

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
UDP-galactosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-galactosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
galactosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
galactosylxylosylprotein 3-beta-galactosyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
chondroitin sulfate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glycosaminoglycan biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycosaminoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
glycosaminoglycan metabolic process TAS
Traceable Author Statement
more info
 
heparan sulfate proteoglycan biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
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 cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi medial cisterna IDA
Inferred from Direct Assay
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 HDA PubMed 

General protein information

Preferred Names
beta-1,3-galactosyltransferase 6
Names
GAG GalTII
UDP-Gal:betaGal beta 1,3-galactosyltransferase 6
UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 6
beta-1,3-GalTase 6
beta3Gal-T6
galactosyltransferase II
galactosylxylosylprotein 3-beta-galactosyltransferase
NP_542172.2

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_033265.1 RefSeqGene

    Range
    4989..7793
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_080605.4NP_542172.2  beta-1,3-galactosyltransferase 6

    See identical proteins and their annotated locations for NP_542172.2

    Status: REVIEWED

    Source sequence(s)
    AL162741
    Consensus CDS
    CCDS13.1
    UniProtKB/Swiss-Prot
    Q96L58
    Related
    ENSP00000368496.2, ENST00000379198.5
    Conserved Domains (1) summary
    cl21608
    Location:71260
    Galactosyl_T; Galactosyltransferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    1232237..1235041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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