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Q9UBX8 (B4GT6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Beta-1,4-galactosyltransferase 6

Short name=Beta-1,4-GalTase 6
Short name=Beta4Gal-T6
Short name=b4Gal-T6
EC=2.4.1.-
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:

  1. 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 names
Name:B4GALT6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length382 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for the biosynthesis of glycosphingolipids. Ref.5 Ref.6

Catalytic activity

UDP-galactose + glucosylceramide = UDP + lactosylceramide. Ref.2 Ref.5 Ref.6

UDP-alpha-D-galactose + beta-D-glucosyl-(1<->1)-ceramide = UDP + beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide. Ref.2 Ref.5 Ref.6

Cofactor

Manganese or magnesium. Ref.5

Enzyme regulation

Inhibited by EDTA By similarity.

Pathway

Protein modification; protein glycosylation.

Subcellular location

Golgi apparatusGolgi stack membrane; Single-pass type II membrane protein. Note: Trans cisternae of Golgi stack.

Tissue specificity

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

Sequence similarities

Belongs to the glycosyltransferase 7 family.

Biophysicochemical properties

Kinetic parameters:

KM=3 µM for glucosylceramide Ref.5

KM=0.5 µM for UDP-galactose

Vmax=0.06 nmol/h/mg enzyme toward glucosylceramide

Vmax=86 nmol/h/mg enzyme toward UDP-galactose

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 382382Beta-1,4-galactosyltransferase 6
PRO_0000080547

Regions

Topological domain1 – 1414Cytoplasmic Potential
Transmembrane15 – 3521Helical; Signal-anchor for type II membrane protein; Potential
Topological domain36 – 382347Lumenal Potential
Region163 – 1675UDP-alpha-D-galactose binding By similarity
Region202 – 2043UDP-alpha-D-galactose binding By similarity
Region229 – 2302UDP-alpha-D-galactose binding By similarity
Region292 – 2954N-acetyl-D-glucosamine binding By similarity
Region323 – 3242UDP-alpha-D-galactose binding By similarity

Sites

Metal binding2301Manganese By similarity
Metal binding3231Manganese; via tele nitrogen By similarity
Binding site2581UDP-alpha-D-galactose By similarity
Binding site2901UDP-alpha-D-galactose By similarity
Binding site3341N-acetyl-D-glucosamine By similarity

Amino acid modifications

Glycosylation711N-linked (GlcNAc...) Potential
Glycosylation751N-linked (GlcNAc...) Potential
Glycosylation831N-linked (GlcNAc...) Potential
Glycosylation841N-linked (GlcNAc...) Potential
Glycosylation991N-linked (GlcNAc...) Potential
Glycosylation1221N-linked (GlcNAc...) Potential
Glycosylation3071N-linked (GlcNAc...) Potential
Glycosylation3671N-linked (GlcNAc...) Potential
Disulfide bond108 ↔ 152 By similarity
Disulfide bond223 ↔ 242 By similarity

Natural variations

Natural variant3791I → V.
Corresponds to variant rs34683195 [ dbSNP | Ensembl ].
VAR_054023

Experimental info

Sequence conflict1941I → V in AAC39737. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9UBX8 [UniParc].

Last modified May 1, 2000. Version 1.
Checksum: 18E39920744ED643

FASTA38244,914
        10         20         30         40         50         60 
MSVLRRMMRV SNRSLLAFIF FFSLSSSCLY FIYVAPGIAN TYLFMVQARG IMLRENVKTI 

        70         80         90        100        110        120 
GHMIRLYTNK NSTLNGTDYP EGNNSSDYLV QTTTYLPENF TYSPYLPCPE KLPYMRGFLN 

       130        140        150        160        170        180 
VNVSEVSFDE IHQLFSKDLD IEPGGHWRPK DCKPRWKVAV LIPFRNRHEH LPIFFLHLIP 

       190        200        210        220        230        240 
MLQKQRLEFA FYVIEQTGTQ PFNRAMLFNV GFKEAMKDSV WDCVIFHDVD HLPENDRNYY 

       250        260        270        280        290        300 
GCGEMPRHFA AKLDKYMYIL PYKEFFGGVS GLTVEQFRKI NGFPNAFWGW GGEDDDLWNR 

       310        320        330        340        350        360 
VHYAGYNVTR PEGDLGKYKS IPHHHRGEVQ FLGRYKLLRY SKERQYIDGL NNLIYRPKIL 

       370        380 
VDRLYTNISV NLMPELAPIE DY 

« Hide

References

« Hide 'large scale' references
[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].
[2]"cDNA cloning and expression of human lactosylceramide synthase."
Takizawa M., Nomura T., Wakisaka E., Yoshizuka N., Aoki J., Arai H., Inoue K., Hattori M., Matsuo N.
Biochim. Biophys. Acta 1438:301-304(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], 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].
[4]"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].
Tissue: Lung.
[5]"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.
[6]"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.
[7]"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.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Beta-1,4-galactosyltransferase 6

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF038664 mRNA. Translation: AAC39737.1.
AF097159 mRNA. Translation: AAD41695.1.
AB024742 mRNA. Translation: BAA76273.2.
BC074835 mRNA. Translation: AAH74835.1.
BC074884 mRNA. Translation: AAH74884.1.
RefSeqNP_004766.2. NM_004775.3.
UniGeneHs.591063.

3D structure databases

ProteinModelPortalQ9UBX8.
SMRQ9UBX8. Positions 108-372.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000306459.

Protein family/group databases

CAZyGT7. Glycosyltransferase Family 7.

PTM databases

PhosphoSiteQ9UBX8.

Polymorphism databases

DMDM13123991.

Proteomic databases

PaxDbQ9UBX8.
PRIDEQ9UBX8.

Protocols and materials databases

DNASU9331.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000306851; ENSP00000306459; ENSG00000118276.
GeneID9331.
KEGGhsa:9331.
UCSCuc002kwz.4. human.

Organism-specific databases

CTD9331.
GeneCardsGC18M029226.
HGNCHGNC:929. B4GALT6.
HPACAB020701.
MIM604017. gene.
neXtProtNX_Q9UBX8.
PharmGKBPA25228.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG327897.
HOGENOMHOG000231027.
HOVERGENHBG058334.
InParanoidQ9UBX8.
KOK07553.
OMAMYLPENF.
OrthoDBEOG7060R0.
PhylomeDBQ9UBX8.
TreeFamTF312834.

Enzyme and pathway databases

BioCycMetaCyc:ENSG00000118276-MONOMER.
ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
REACT_17015. Metabolism of proteins.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressQ9UBX8.
BgeeQ9UBX8.
CleanExHS_B4GALT6.
GenevestigatorQ9UBX8.

Family and domain databases

InterProIPR003859. Galactosyl_T.
IPR027791. Galactosyl_T_C.
IPR027995. Galactosyl_T_N.
[Graphical view]
PANTHERPTHR19300. PTHR19300. 1 hit.
PfamPF02709. Glyco_transf_7C. 1 hit.
PF13733. Glyco_transf_7N. 1 hit.
[Graphical view]
PRINTSPR02050. B14GALTRFASE.
ProtoNetSearch...

Other

GenomeRNAi9331.
NextBio34951.
PROQ9UBX8.
SOURCESearch...

Entry information

Entry nameB4GT6_HUMAN
AccessionPrimary (citable) accession number: Q9UBX8
Secondary accession number(s): O60514
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: May 1, 2000
Last modified: April 16, 2014
This is version 119 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM