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Q9UBX8

- B4GT6_HUMAN

UniProt

Q9UBX8 - B4GT6_HUMAN

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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

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

Mn2+1 Publication, Mg2+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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1414CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei15 – 3521Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini36 – 382347LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

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

BgeeiQ9UBX8.
CleanExiHS_B4GALT6.
ExpressionAtlasiQ9UBX8. baseline and differential.
GenevestigatoriQ9UBX8.

Organism-specific databases

HPAiCAB020701.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000306459.

Structurei

3D structure databases

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

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.
GeneTreeiENSGT00760000119140.
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

        10         20         30         40         50
MSVLRRMMRV SNRSLLAFIF FFSLSSSCLY FIYVAPGIAN TYLFMVQARG
60 70 80 90 100
IMLRENVKTI GHMIRLYTNK NSTLNGTDYP EGNNSSDYLV QTTTYLPENF
110 120 130 140 150
TYSPYLPCPE KLPYMRGFLN VNVSEVSFDE IHQLFSKDLD IEPGGHWRPK
160 170 180 190 200
DCKPRWKVAV LIPFRNRHEH LPIFFLHLIP MLQKQRLEFA FYVIEQTGTQ
210 220 230 240 250
PFNRAMLFNV GFKEAMKDSV WDCVIFHDVD HLPENDRNYY GCGEMPRHFA
260 270 280 290 300
AKLDKYMYIL PYKEFFGGVS GLTVEQFRKI NGFPNAFWGW GGEDDDLWNR
310 320 330 340 350
VHYAGYNVTR PEGDLGKYKS IPHHHRGEVQ FLGRYKLLRY SKERQYIDGL
360 370 380
NNLIYRPKIL VDRLYTNISV NLMPELAPIE DY
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:
EMBLi
GenBanki
DDBJi
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. [Q9UBX8-1]
RefSeqiNP_004766.2. NM_004775.3. [Q9UBX8-1]
UniGeneiHs.591063.

Genome annotation databases

EnsembliENST00000306851; ENSP00000306459; ENSG00000118276. [Q9UBX8-1]
ENST00000383131; ENSP00000372613; ENSG00000118276. [Q9UBX8-2]
GeneIDi9331.
KEGGihsa:9331.
UCSCiuc002kwz.4. human. [Q9UBX8-1]

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:
EMBLi
GenBanki
DDBJi
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. [Q9UBX8-1 ]
RefSeqi NP_004766.2. NM_004775.3. [Q9UBX8-1 ]
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 . [Q9UBX8-1 ]
ENST00000383131 ; ENSP00000372613 ; ENSG00000118276 . [Q9UBX8-2 ]
GeneIDi 9331.
KEGGi hsa:9331.
UCSCi uc002kwz.4. human. [Q9UBX8-1 ]

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.
GeneTreei ENSGT00760000119140.
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

Bgeei Q9UBX8.
CleanExi HS_B4GALT6.
ExpressionAtlasi Q9UBX8. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 126 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