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Protein

Beta-1,4-galactosyltransferase 6

Gene

B4GALT6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for the biosynthesis of glycosphingolipids.2 Publications

Catalytic activityi

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

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
  1. Vmax=0.06 nmol/h/mg enzyme toward glucosylceramide1 Publication
  2. Vmax=86 nmol/h/mg enzyme toward UDP-galactose1 Publication

Pathwayi: protein glycosylation

This protein is involved in the pathway protein glycosylation, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein glycosylation and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi230ManganeseBy similarity1
Binding sitei258UDP-alpha-D-galactoseBy similarity1
Binding sitei290UDP-alpha-D-galactoseBy similarity1
Metal bindingi323Manganese; via tele nitrogenBy similarity1
Binding sitei334N-acetyl-D-glucosamineBy similarity1

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Ligandi

Calcium, Magnesium, Manganese, Metal-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000118276-MONOMER.
ZFISH:ENSG00000118276-MONOMER.
BRENDAi2.4.1.274. 2681.
ReactomeiR-HSA-2022854. Keratan sulfate biosynthesis.
R-HSA-913709. O-linked glycosylation of mucins.
R-HSA-975577. N-Glycan antennae elongation.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT7. Glycosyltransferase Family 7.

Chemistry databases

SwissLipidsiSLP:000001379. [Q9UBX8-1]

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-1,4-galactosyltransferase 6
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:2.4.1.2742 Publications)
Alternative name(s):
Lactosylceramide synthase
Short name:
LacCer synthase
UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase1 Publication
Gene namesi
Name:B4GALT6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

HGNCiHGNC:929. B4GALT6.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 14CytoplasmicSequence analysisAdd BLAST14
Transmembranei15 – 35Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini36 – 382LumenalSequence analysisAdd BLAST347

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi9331.
OpenTargetsiENSG00000118276.
PharmGKBiPA25228.

Polymorphism and mutation databases

BioMutaiB4GALT6.
DMDMi13123991.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000805471 – 382Beta-1,4-galactosyltransferase 6Add BLAST382

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi71N-linked (GlcNAc...)Sequence analysis1
Glycosylationi75N-linked (GlcNAc...)Sequence analysis1
Glycosylationi83N-linked (GlcNAc...)Sequence analysis1
Glycosylationi84N-linked (GlcNAc...)Sequence analysis1
Glycosylationi99N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi108 ↔ 152By similarity
Glycosylationi122N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi223 ↔ 242By similarity
Glycosylationi307N-linked (GlcNAc...)Sequence analysis1
Glycosylationi367N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ9UBX8.
PaxDbiQ9UBX8.
PeptideAtlasiQ9UBX8.
PRIDEiQ9UBX8.

PTM databases

iPTMnetiQ9UBX8.
PhosphoSitePlusiQ9UBX8.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000118276.
CleanExiHS_B4GALT6.
ExpressionAtlasiQ9UBX8. baseline and differential.
GenevisibleiQ9UBX8. HS.

Organism-specific databases

HPAiCAB020701.
HPA058284.

Interactioni

Protein-protein interaction databases

BioGridi114740. 4 interactors.
STRINGi9606.ENSP00000306459.

Structurei

3D structure databases

ProteinModelPortaliQ9UBX8.
SMRiQ9UBX8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni163 – 167UDP-alpha-D-galactose bindingBy similarity5
Regioni202 – 204UDP-alpha-D-galactose bindingBy similarity3
Regioni229 – 230UDP-alpha-D-galactose bindingBy similarity2
Regioni292 – 295N-acetyl-D-glucosamine bindingBy similarity4
Regioni323 – 324UDP-alpha-D-galactose bindingBy similarity2

Sequence similaritiesi

Belongs to the glycosyltransferase 7 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3916. Eukaryota.
ENOG410ZYYA. LUCA.
GeneTreeiENSGT00760000119140.
HOGENOMiHOG000231027.
HOVERGENiHBG058334.
InParanoidiQ9UBX8.
KOiK07553.
OMAiMYLPENF.
OrthoDBiEOG091G0P66.
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. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti194I → V in AAC39737 (PubMed:9597550).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054023379I → V.Corresponds to variant rs34683195dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_056554158 – 196Missing in isoform 2. 1 PublicationAdd BLAST39

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_001317499.1. NM_001330570.1.
NP_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.5. human. [Q9UBX8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

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.
CCDSiCCDS11900.1. [Q9UBX8-1]
RefSeqiNP_001317499.1. NM_001330570.1.
NP_004766.2. NM_004775.3. [Q9UBX8-1]
UniGeneiHs.591063.

3D structure databases

ProteinModelPortaliQ9UBX8.
SMRiQ9UBX8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114740. 4 interactors.
STRINGi9606.ENSP00000306459.

Chemistry databases

SwissLipidsiSLP:000001379. [Q9UBX8-1]

Protein family/group databases

CAZyiGT7. Glycosyltransferase Family 7.

PTM databases

iPTMnetiQ9UBX8.
PhosphoSitePlusiQ9UBX8.

Polymorphism and mutation databases

BioMutaiB4GALT6.
DMDMi13123991.

Proteomic databases

EPDiQ9UBX8.
PaxDbiQ9UBX8.
PeptideAtlasiQ9UBX8.
PRIDEiQ9UBX8.

Protocols and materials databases

DNASUi9331.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306851; ENSP00000306459; ENSG00000118276. [Q9UBX8-1]
ENST00000383131; ENSP00000372613; ENSG00000118276. [Q9UBX8-2]
GeneIDi9331.
KEGGihsa:9331.
UCSCiuc002kwz.5. human. [Q9UBX8-1]

Organism-specific databases

CTDi9331.
DisGeNETi9331.
GeneCardsiB4GALT6.
HGNCiHGNC:929. B4GALT6.
HPAiCAB020701.
HPA058284.
MIMi604017. gene.
neXtProtiNX_Q9UBX8.
OpenTargetsiENSG00000118276.
PharmGKBiPA25228.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3916. Eukaryota.
ENOG410ZYYA. LUCA.
GeneTreeiENSGT00760000119140.
HOGENOMiHOG000231027.
HOVERGENiHBG058334.
InParanoidiQ9UBX8.
KOiK07553.
OMAiMYLPENF.
OrthoDBiEOG091G0P66.
PhylomeDBiQ9UBX8.
TreeFamiTF312834.

Enzyme and pathway databases

UniPathwayiUPA00378.
BioCyciMetaCyc:ENSG00000118276-MONOMER.
ZFISH:ENSG00000118276-MONOMER.
BRENDAi2.4.1.274. 2681.
ReactomeiR-HSA-2022854. Keratan sulfate biosynthesis.
R-HSA-913709. O-linked glycosylation of mucins.
R-HSA-975577. N-Glycan antennae elongation.

Miscellaneous databases

GenomeRNAii9331.
PROiQ9UBX8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000118276.
CleanExiHS_B4GALT6.
ExpressionAtlasiQ9UBX8. baseline and differential.
GenevisibleiQ9UBX8. HS.

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.
ProtoNetiSearch...

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 30, 2016
This is version 145 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.