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

Gene ID: 9331, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:929
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 in human. 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. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]
Expression
Broad expression in adrenal (RPKM 5.6), brain (RPKM 4.9) and 24 other tissues See more
Orthologs
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Genomic context

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See B4GALT6 in Genome Data Viewer
Location:
18q12.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31622246..31724641, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31812761..31915198, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29202209..29266006, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene desmoglein 2 Neighboring gene DSG2 antisense RNA 1 Neighboring gene uncharacterized LOC124904277 Neighboring gene transthyretin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13204 Neighboring gene uncharacterized LOC124904361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9385 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:29303886-29305085 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 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:29318221-29319420 Neighboring gene solute carrier family 25 member 52

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Molecular cloning, genomic organization, and mapping of beta 4GalT-VIb, a brain abundant member of beta 4-galactosyltransferase gene family, to human chromosome 18q12.1. Fan Y, et al. DNA Seq, 2002 Feb. PMID 12180132
  2. cDNA cloning and expression of human lactosylceramide synthase. Takizawa M, et al. Biochim Biophys Acta, 1999 May 18. PMID 10320813
  3. Establishment of HeLa cell mutants deficient in sphingolipid-related genes using TALENs. Yamaji T, et al. PLoS One, 2014. PMID 24498430, Free PMC Article
  4. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. Lo NW, et al. Glycobiology, 1998 May. PMID 9597550
  5. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Landers JE, et al. Proc Natl Acad Sci U S A, 2009 Jun 2. PMID 19451621, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. genomic organization and mapping of beta 4GalT-VIb to human chromosome 18q12.1
    Title: Molecular cloning, genomic organization, and mapping of beta 4GalT-VIb, a brain abundant member of beta 4-galactosyltransferase gene family, to human chromosome 18q12.1.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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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_001365038.1
NP_001365039.1
NP_004766.2
XP_005258444.1
XP_006722641.1
XP_006722642.1
XP_016881579.1
XP_016881580.1
XP_047293899.1
XP_054175342.1
XP_054175343.1
XP_054175344.1
XP_054175345.1
XP_054175346.1
XP_054175347.1

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_001330570.3 → NP_001317499.1  beta-1,4-galactosyltransferase 6 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC017100
    Consensus CDS
    CCDS82245.1
    UniProtKB/TrEMBL
    G3XA83, Q8WZ95
    Related
    ENSP00000237019.7, ENST00000237019.11
    Conserved Domains (1) summary
    cd00899
    Location:116 → 332
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  2. NM_001378109.1 → NP_001365038.1  beta-1,4-galactosyltransferase 6 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC017100
    UniProtKB/TrEMBL
    Q6NT00
    Conserved Domains (1) summary
    cd00899
    Location:111 → 327
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  3. NM_001378110.1 → NP_001365039.1  beta-1,4-galactosyltransferase 6 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC017100
    Conserved Domains (1) summary
    cd00899
    Location:1 → 191
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  4. NM_004775.5 → NP_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
    O60514, Q6NT09, Q9UBX8
    UniProtKB/TrEMBL
    B2RBX9, Q6NT00
    Related
    ENSP00000306459.5, ENST00000306851.10
    Conserved Domains (1) summary
    cd00899
    Location:155 → 371
    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: 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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    31622246..31724641 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258387.5 → XP_005258444.1  beta-1,4-galactosyltransferase 6 isoform X1

    UniProtKB/TrEMBL
    Q6NT00
    Conserved Domains (1) summary
    cd00899
    Location:143 → 359
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  2. XM_047437943.1 → XP_047293899.1  beta-1,4-galactosyltransferase 6 isoform X4

  3. XM_017026091.2 → XP_016881580.1  beta-1,4-galactosyltransferase 6 isoform X6

  4. XM_006722578.4 → XP_006722641.1  beta-1,4-galactosyltransferase 6 isoform X2

    UniProtKB/TrEMBL
    B2RBX9, Q6NT00
    Conserved Domains (1) summary
    cd00899
    Location:117 → 333
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  5. XM_006722579.5 → XP_006722642.1  beta-1,4-galactosyltransferase 6 isoform X3

    UniProtKB/TrEMBL
    Q6NT00
    Conserved Domains (1) summary
    cd00899
    Location:111 → 327
    b4GalT; Beta-4-Galactosyltransferase is involved in the formation of the poly-N-acetyllactosamine core structures present in glycoproteins and glycosphingolipids

  6. XM_017026090.2 → XP_016881579.1  beta-1,4-galactosyltransferase 6 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    31812761..31915198 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319367.1 → XP_054175342.1  beta-1,4-galactosyltransferase 6 isoform X1

  2. XM_054319370.1 → XP_054175345.1  beta-1,4-galactosyltransferase 6 isoform X4

  3. XM_054319372.1 → XP_054175347.1  beta-1,4-galactosyltransferase 6 isoform X6

  4. XM_054319368.1 → XP_054175343.1  beta-1,4-galactosyltransferase 6 isoform X2

  5. XM_054319369.1 → XP_054175344.1  beta-1,4-galactosyltransferase 6 isoform X3

  6. XM_054319371.1 → XP_054175346.1  beta-1,4-galactosyltransferase 6 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBX8.1 GenPept UniProtKB/Swiss-Prot:Q9UBX8

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