Q9UBX8 (B4GT6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	382 AA.
Sequence status	Complete.
Protein existence	Evidence 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 apparatus › Golgi 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

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	Calcium Magnesium Manganese Metal-binding
Molecular function	Glycosyltransferase Transferase
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	keratan sulfate biosynthetic process Traceable author statement. Source: Reactome post-translational protein modification Traceable author statement. Source: Reactome protein N-linked glycosylation via asparagine Traceable author statement. Source: Reactome
Cellular_component	Golgi cisterna membrane Inferred from electronic annotation. Source: UniProtKB-SubCell Golgi membrane Traceable author statement. Source: Reactome integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity Inferred from electronic annotation. Source: Compara galactosyltransferase activity Traceable author statement Ref.1. Source: ProtInc metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 382	382	Beta-1,4-galactosyltransferase 6		PRO_0000080547
Regions
	Topological domain	1 – 14	14	Cytoplasmic Potential
	Transmembrane	15 – 35	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	36 – 382	347	Lumenal Potential
Sites
	Metal binding	230	1	Manganese By similarity
	Metal binding	323	1	Manganese By similarity
Amino acid modifications
	Glycosylation	71	1	N-linked (GlcNAc...) Potential
	Glycosylation	75	1	N-linked (GlcNAc...) Potential
	Glycosylation	83	1	N-linked (GlcNAc...) Potential
	Glycosylation	84	1	N-linked (GlcNAc...) Potential
	Glycosylation	99	1	N-linked (GlcNAc...) Potential
	Glycosylation	122	1	N-linked (GlcNAc...) Potential
	Glycosylation	307	1	N-linked (GlcNAc...) Potential
	Glycosylation	367	1	N-linked (GlcNAc...) Potential
	Disulfide bond	108 ↔ 152		By similarity
	Disulfide bond	223 ↔ 242		By similarity
Natural variations
	Natural variant	379	1	I → V. Corresponds to variant rs34683195 [ dbSNP | Ensembl ].		VAR_054023
Experimental info
	Sequence conflict	194	1	I → V in AAC39737. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9UBX8 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: 18E39920744ED643	FASTA	382	44,914
	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

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00294617.
RefSeq	NP_004766.2. NM_004775.3.
UniGene	Hs.591063.
3D structure databases
ProteinModelPortal	Q9UBX8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000306459.
Protein family/group databases
CAZy	GT7. Glycosyltransferase Family 7.
PTM databases
PhosphoSite	Q9UBX8.
Polymorphism databases
DMDM	13123991.
Proteomic databases
PaxDb	Q9UBX8.
PRIDE	Q9UBX8.
Protocols and materials databases
DNASU	9331.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306851; ENSP00000306459; ENSG00000118276.
GeneID	9331.
KEGG	hsa:9331.
UCSC	uc002kwz.4. human.
Organism-specific databases
CTD	9331.
GeneCards	GC18M029226.
HGNC	HGNC:929. B4GALT6.
HPA	CAB020701.
MIM	604017. gene.
neXtProt	NX_Q9UBX8.
PharmGKB	PA25228.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG327897.
HOGENOM	HOG000231027.
HOVERGEN	HBG058334.
InParanoid	Q9UBX8.
KO	K07553.
OMA	VWDCVIF.
OrthoDB	EOG41RPV2.
PhylomeDB	Q9UBX8.
Enzyme and pathway databases
BioCyc	MetaCyc:ENSG00000118276-MONOMER.
Reactome	REACT_111217. Metabolism. REACT_116125. Disease. REACT_17015. Metabolism of proteins.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	Q9UBX8.
Bgee	Q9UBX8.
CleanEx	HS_B4GALT6.
Genevestigator	Q9UBX8.
GermOnline	ENSG00000118276. Homo sapiens.
Family and domain databases
InterPro	IPR003859. Galactosyl_T_2_met. [Graphical view]
PANTHER	PTHR19300. PTHR19300. 1 hit.
Pfam	PF02709. Glyco_transf_7C. 1 hit. [Graphical view]
PRINTS	PR02050. B14GALTRFASE.
ProtoNet	Search...
Other
GenomeRNAi	9331.
NextBio	34951.
SOURCE	Search...

Entry information

Entry name

B4GT6_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 111 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.