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Q9UBX8

- B4GT6_HUMAN

UniProt

Q9UBX8 - B4GT6_HUMAN

Protein

Beta-1,4-galactosyltransferase 6

Gene

B4GALT6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 124 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Required for the biosynthesis of glycosphingolipids.2 Publications

    Catalytic activityi

    UDP-galactose + glucosylceramide = UDP + lactosylceramide.
    UDP-alpha-D-galactose + beta-D-glucosyl-(1<->1)-ceramide = UDP + beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.

    Cofactori

    Manganese or magnesium.1 Publication

    Enzyme regulationi

    Inhibited by EDTA.By similarity

    Kineticsi

    1. KM=3 µM for glucosylceramide1 Publication
    2. KM=0.5 µM for UDP-galactose1 Publication

    Vmax=0.06 nmol/h/mg enzyme toward glucosylceramide1 Publication

    Vmax=86 nmol/h/mg enzyme toward UDP-galactose1 Publication

    Pathwayi

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi230 – 2301ManganeseBy similarity
    Binding sitei258 – 2581UDP-alpha-D-galactoseBy similarity
    Binding sitei290 – 2901UDP-alpha-D-galactoseBy similarity
    Metal bindingi323 – 3231Manganese; via tele nitrogenBy similarity
    Binding sitei334 – 3341N-acetyl-D-glucosamineBy similarity

    GO - Molecular functioni

    1. galactosyltransferase activity Source: ProtInc
    2. metal ion binding Source: UniProtKB-KW

    GO - Biological processi

    1. carbohydrate metabolic process Source: Reactome
    2. cellular protein metabolic process Source: Reactome
    3. glycosaminoglycan metabolic process Source: Reactome
    4. keratan sulfate biosynthetic process Source: Reactome
    5. keratan sulfate metabolic process Source: Reactome
    6. post-translational protein modification Source: Reactome
    7. protein N-linked glycosylation via asparagine Source: Reactome
    8. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Ligandi

    Calcium, Magnesium, Manganese, Metal-binding

    Enzyme and pathway databases

    BioCyciMetaCyc:ENSG00000118276-MONOMER.
    ReactomeiREACT_115606. O-linked glycosylation of mucins.
    REACT_121120. Keratan sulfate biosynthesis.
    REACT_25085. N-Glycan antennae elongation.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT7. Glycosyltransferase Family 7.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-1,4-galactosyltransferase 6 (EC:2.4.1.-)
    Short name:
    Beta-1,4-GalTase 6
    Short name:
    Beta4Gal-T6
    Short name:
    b4Gal-T6
    Alternative name(s):
    UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6
    UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6
    Including the following 1 domains:
    Glucosylceramide beta-1,4-galactosyltransferase (EC:2.4.1.274)
    Alternative name(s):
    Lactosylceramide synthase
    Short name:
    LacCer synthase
    UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase
    Gene namesi
    Name:B4GALT6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:929. B4GALT6.

    Subcellular locationi

    GO - Cellular componenti

    1. Golgi cisterna membrane Source: UniProtKB-SubCell
    2. Golgi membrane Source: Reactome
    3. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25228.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 382382Beta-1,4-galactosyltransferase 6PRO_0000080547Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi71 – 711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi75 – 751N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi83 – 831N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi84 – 841N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi99 – 991N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi108 ↔ 152By similarity
    Glycosylationi122 – 1221N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi223 ↔ 242By similarity
    Glycosylationi307 – 3071N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi367 – 3671N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    MaxQBiQ9UBX8.
    PaxDbiQ9UBX8.
    PRIDEiQ9UBX8.

    PTM databases

    PhosphoSiteiQ9UBX8.

    Expressioni

    Tissue specificityi

    High expression in brain and adrenal gland, lower in liver, lung, colon and peripheral white blood cells.

    Gene expression databases

    ArrayExpressiQ9UBX8.
    BgeeiQ9UBX8.
    CleanExiHS_B4GALT6.
    GenevestigatoriQ9UBX8.

    Organism-specific databases

    HPAiCAB020701.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000306459.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UBX8.
    SMRiQ9UBX8. Positions 108-372.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 1414CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini36 – 382347LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei15 – 3521Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni163 – 1675UDP-alpha-D-galactose bindingBy similarity
    Regioni202 – 2043UDP-alpha-D-galactose bindingBy similarity
    Regioni229 – 2302UDP-alpha-D-galactose bindingBy similarity
    Regioni292 – 2954N-acetyl-D-glucosamine bindingBy similarity
    Regioni323 – 3242UDP-alpha-D-galactose bindingBy similarity

    Sequence similaritiesi

    Belongs to the glycosyltransferase 7 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG327897.
    HOGENOMiHOG000231027.
    HOVERGENiHBG058334.
    InParanoidiQ9UBX8.
    KOiK07553.
    OMAiMYLPENF.
    OrthoDBiEOG7060R0.
    PhylomeDBiQ9UBX8.
    TreeFamiTF312834.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR003859. Galactosyl_T.
    IPR027791. Galactosyl_T_C.
    IPR027995. Galactosyl_T_N.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR19300. PTHR19300. 1 hit.
    PfamiPF02709. Glyco_transf_7C. 1 hit.
    PF13733. Glyco_transf_7N. 1 hit.
    [Graphical view]
    PRINTSiPR02050. B14GALTRFASE.
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9UBX8-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MSVLRRMMRV SNRSLLAFIF FFSLSSSCLY FIYVAPGIAN TYLFMVQARG    50
    IMLRENVKTI GHMIRLYTNK NSTLNGTDYP EGNNSSDYLV QTTTYLPENF 100
    TYSPYLPCPE KLPYMRGFLN VNVSEVSFDE IHQLFSKDLD IEPGGHWRPK 150
    DCKPRWKVAV LIPFRNRHEH LPIFFLHLIP MLQKQRLEFA FYVIEQTGTQ 200
    PFNRAMLFNV GFKEAMKDSV WDCVIFHDVD HLPENDRNYY GCGEMPRHFA 250
    AKLDKYMYIL PYKEFFGGVS GLTVEQFRKI NGFPNAFWGW GGEDDDLWNR 300
    VHYAGYNVTR PEGDLGKYKS IPHHHRGEVQ FLGRYKLLRY SKERQYIDGL 350
    NNLIYRPKIL VDRLYTNISV NLMPELAPIE DY 382
    Length:382
    Mass (Da):44,914
    Last modified:May 1, 2000 - v1
    Checksum:i18E39920744ED643
    GO
    Isoform 2 (identifier: Q9UBX8-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         158-196: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:343
    Mass (Da):40,127
    Checksum:i49C014BD2F992A7C
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti194 – 1941I → V in AAC39737. (PubMed:9597550)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti379 – 3791I → V.
    Corresponds to variant rs34683195 [ dbSNP | Ensembl ].
    VAR_054023

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei158 – 19639Missing in isoform 2. 1 PublicationVSP_056554Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF038664 mRNA. Translation: AAC39737.1.
    AF097159 mRNA. Translation: AAD41695.1.
    AB024742 mRNA. Translation: BAA76273.2.
    AC017100 Genomic DNA. No translation available.
    CH471088 Genomic DNA. Translation: EAX01269.1.
    BC069620 mRNA. Translation: AAH69620.1.
    BC074835 mRNA. Translation: AAH74835.1.
    BC074884 mRNA. Translation: AAH74884.1.
    CCDSiCCDS11900.1.
    RefSeqiNP_004766.2. NM_004775.3.
    UniGeneiHs.591063.

    Genome annotation databases

    EnsembliENST00000306851; ENSP00000306459; ENSG00000118276.
    ENST00000383131; ENSP00000372613; ENSG00000118276.
    GeneIDi9331.
    KEGGihsa:9331.
    UCSCiuc002kwz.4. human.

    Polymorphism databases

    DMDMi13123991.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Functional Glycomics Gateway - GTase

    Beta-1,4-galactosyltransferase 6

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF038664 mRNA. Translation: AAC39737.1 .
    AF097159 mRNA. Translation: AAD41695.1 .
    AB024742 mRNA. Translation: BAA76273.2 .
    AC017100 Genomic DNA. No translation available.
    CH471088 Genomic DNA. Translation: EAX01269.1 .
    BC069620 mRNA. Translation: AAH69620.1 .
    BC074835 mRNA. Translation: AAH74835.1 .
    BC074884 mRNA. Translation: AAH74884.1 .
    CCDSi CCDS11900.1.
    RefSeqi NP_004766.2. NM_004775.3.
    UniGenei Hs.591063.

    3D structure databases

    ProteinModelPortali Q9UBX8.
    SMRi Q9UBX8. Positions 108-372.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000306459.

    Protein family/group databases

    CAZyi GT7. Glycosyltransferase Family 7.

    PTM databases

    PhosphoSitei Q9UBX8.

    Polymorphism databases

    DMDMi 13123991.

    Proteomic databases

    MaxQBi Q9UBX8.
    PaxDbi Q9UBX8.
    PRIDEi Q9UBX8.

    Protocols and materials databases

    DNASUi 9331.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000306851 ; ENSP00000306459 ; ENSG00000118276 .
    ENST00000383131 ; ENSP00000372613 ; ENSG00000118276 .
    GeneIDi 9331.
    KEGGi hsa:9331.
    UCSCi uc002kwz.4. human.

    Organism-specific databases

    CTDi 9331.
    GeneCardsi GC18M029226.
    HGNCi HGNC:929. B4GALT6.
    HPAi CAB020701.
    MIMi 604017. gene.
    neXtProti NX_Q9UBX8.
    PharmGKBi PA25228.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG327897.
    HOGENOMi HOG000231027.
    HOVERGENi HBG058334.
    InParanoidi Q9UBX8.
    KOi K07553.
    OMAi MYLPENF.
    OrthoDBi EOG7060R0.
    PhylomeDBi Q9UBX8.
    TreeFami TF312834.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BioCyci MetaCyc:ENSG00000118276-MONOMER.
    Reactomei REACT_115606. O-linked glycosylation of mucins.
    REACT_121120. Keratan sulfate biosynthesis.
    REACT_25085. N-Glycan antennae elongation.

    Miscellaneous databases

    GenomeRNAii 9331.
    NextBioi 34951.
    PROi Q9UBX8.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UBX8.
    Bgeei Q9UBX8.
    CleanExi HS_B4GALT6.
    Genevestigatori Q9UBX8.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR003859. Galactosyl_T.
    IPR027791. Galactosyl_T_C.
    IPR027995. Galactosyl_T_N.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR19300. PTHR19300. 1 hit.
    Pfami PF02709. Glyco_transf_7C. 1 hit.
    PF13733. Glyco_transf_7N. 1 hit.
    [Graphical view ]
    PRINTSi PR02050. B14GALTRFASE.
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The expanding beta 4-galactosyltransferase gene family: messages from the databanks."
      Lo N.-W., Shaper J.H., Pevsner J., Shaper N.L.
      Glycobiology 8:517-526(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CATALYTIC ACTIVITY.
      Tissue: Brain.
    3. "Human beta-1,4-galactosyltransferase VI."
      Sato T.
      Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
      Tissue: Lung.
    7. "UDPgalactose:glucosylceramide beta 1->4-galactosyltransferase activity in human proximal tubular cells from normal and familial hypercholesterolemic homozygotes."
      Chatterjee S., Castiglione E.
      Biochim. Biophys. Acta 923:136-142(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, COFACTOR, BIOPHYSICOCHEMICAL PROPERTIES.
    8. "Purification of uridine diphosphate-galactose:glucosyl ceramide, beta 1-4 galactosyltransferase from human kidney."
      Chatterjee S., Ghosh N., Khurana S.
      J. Biol. Chem. 267:7148-7153(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, SUBSTRATE SPECIFICITY.
    9. "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions."
      Amado M., Almeida R., Schwientek T., Clausen H.
      Biochim. Biophys. Acta 1473:35-53(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.

    Entry informationi

    Entry nameiB4GT6_HUMAN
    AccessioniPrimary (citable) accession number: Q9UBX8
    Secondary accession number(s): O60514, Q6NT09
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 21, 2001
    Last sequence update: May 1, 2000
    Last modified: October 1, 2014
    This is version 124 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 18
      Human chromosome 18: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3