U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 126792, updated on 5-Mar-2024

    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; AllianceGenome:HGNC:17978
    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
    ALGAZ; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See B3GALT6 in Genome Data Viewer
    Location:
    1p36.33
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (1232237..1235041)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (660694..663498)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (1167617..1170421)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 47 Neighboring gene TNF receptor superfamily member 4 Neighboring gene stromal cell derived factor 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1167335-1168016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1168017-1168698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:1169483-1169984 Neighboring gene C1q and TNF related 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1182045-1182826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1182827-1183607 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14 Neighboring gene ubiquitin conjugating enzyme E2 J2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:1199775-1200974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1207366-1207874 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1207875-1208381 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:1208382-1208889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 49

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in chondroitin sulfate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycosaminoglycan biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in glycosaminoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glycosaminoglycan metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in heparan sulfate proteoglycan biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein O-linked glycosylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in proteoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in Golgi cisterna membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in Golgi medial cisterna IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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), LRG_1261

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_542172.2

      Status: REVIEWED

      Source sequence(s)
      AL162741
      Consensus CDS
      CCDS13.1
      UniProtKB/Swiss-Prot
      Q5T7M5, Q96L58
      UniProtKB/TrEMBL
      Q499Z2
      Related
      ENSP00000368496.2, ENST00000379198.5
      Conserved Domains (1) summary
      cl21608
      Location:71260
      Galactosyl_T; Galactosyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      660694..663498
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)