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B4GALT6 beta-1,4-galactosyltransferase 6 [ Homo sapiens (human) ]

Gene ID: 9331, updated on 12-Oct-2019

Summary

Official Symbol
B4GALT6provided by HGNC
Official Full Name
beta-1,4-galactosyltransferase 6provided by HGNC
Primary source
HGNC:HGNC:929
See related
Ensembl:ENSG00000118276 MIM:604017
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
B4Gal-T6; beta4Gal-T6
Summary
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008]
Expression
Broad expression in adrenal (RPKM 5.6), brain (RPKM 4.9) and 24 other tissues See more
Orthologs

Genomic context

See B4GALT6 in Genome Data Viewer
Location:
18q12.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (31621036..31724670, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29202209..29306560, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene desmoglein 2 Neighboring gene DSG2 antisense RNA 1 Neighboring gene transthyretin Neighboring gene RN7SK pseudogene 44 Neighboring gene leucine rich repeat containing 37 member A7, pseudogene Neighboring gene golgi SNAP receptor complex member 2 pseudogene Neighboring gene solute carrier family 25 member 52

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

Phenotypes

NHGRI GWAS Catalog

Description
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus PubMed

Go to the HIV-1, Human Interaction Database

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:glucosylceramide beta-1,4-galactosyltransferase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
galactosyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
central nervous system myelination ISS
Inferred from Sequence or Structural Similarity
more info
 
central nervous system neuron axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
ganglioside biosynthetic process via lactosylceramide ISS
Inferred from Sequence or Structural Similarity
more info
 
keratan sulfate biosynthetic process TAS
Traceable Author Statement
more info
 
lactosylceramide biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
neuron maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein glycosylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi cisterna membrane IEA
Inferred from Electronic Annotation
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
beta-1,4-galactosyltransferase 6
Names
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6
UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase
UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6
beta-1,4-GalTase 6
beta4GalT-VI
glucosylceramide beta-1,4-galactosyltransferase
lacCer synthase
lactosylceramide synthase
NP_001317499.1
NP_004766.2
XP_005258444.1
XP_006722641.1
XP_006722642.1
XP_016881578.1
XP_016881579.1
XP_016881580.1
XP_016881581.1

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.

mRNA and Protein(s)

  1. NM_001330570.2NP_001317499.1  beta-1,4-galactosyltransferase 6 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB209194, AC017100, AF069054, AF097159
    Consensus CDS
    CCDS82245.1
    UniProtKB/Swiss-Prot
    Q9UBX8
    UniProtKB/TrEMBL
    G3XA83, Q59GB5, Q8WZ95
    Related
    ENSP00000237019.7, ENST00000237019.11
    Conserved Domains (1) summary
    cd00899
    Location:116332
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
  2. NM_004775.4NP_004766.2  beta-1,4-galactosyltransferase 6 isoform 1

    See identical proteins and their annotated locations for NP_004766.2

    Status: REVIEWED

    Source sequence(s)
    AC017100
    Consensus CDS
    CCDS11900.1
    UniProtKB/Swiss-Prot
    Q9UBX8
    Related
    ENSP00000306459.5, ENST00000306851.9
    Conserved Domains (1) summary
    cd00899
    Location:155371
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    31621036..31724670 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258387.4XP_005258444.1  beta-1,4-galactosyltransferase 6 isoform X1

    Conserved Domains (1) summary
    cd00899
    Location:143359
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
  2. XM_017026092.2XP_016881581.1  beta-1,4-galactosyltransferase 6 isoform X6

  3. XM_017026089.2XP_016881578.1  beta-1,4-galactosyltransferase 6 isoform X3

    Conserved Domains (1) summary
    cd00899
    Location:111327
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
  4. XM_006722578.3XP_006722641.1  beta-1,4-galactosyltransferase 6 isoform X2

    Conserved Domains (1) summary
    cd00899
    Location:117333
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
  5. XM_017026091.1XP_016881580.1  beta-1,4-galactosyltransferase 6 isoform X5

  6. XM_006722579.4XP_006722642.1  beta-1,4-galactosyltransferase 6 isoform X3

    Conserved Domains (1) summary
    cd00899
    Location:111327
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids
  7. XM_017026090.1XP_016881579.1  beta-1,4-galactosyltransferase 6 isoform X4

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