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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
    mouse all
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    Genomic context

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    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

    Gene LinkOut

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