O60513 (B4GT4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Beta-1,4-galactosyltransferase 4
Short name=Beta-1,4-GalTase 4
Short name=Beta4Gal-T4
Short name=b4Gal-T4
EC=2.4.1.-

Alternative name(s):
UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 4
UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 4

Including the following 2 domains:

1. N-acetyllactosamine synthase
   EC=2.4.1.90
   Alternative name(s):
   Nal synthase
2. Lactotriaosylceramide beta-1,4-galactosyltransferase
   EC=2.4.1.275
   Alternative name(s):
   Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase

Gene names

Name:	B4GALT4
ORF Names:	UNQ552/PRO1109

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	344 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Ref.2
Catalytic activity	UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine. Ref.2 UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = UDP + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-galactosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide. Ref.2
Cofactor	Manganese 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 heart, placenta, kidney and pancreas; lower in brain, colon, lung, muscle, ovary, testis and uterus.
Sequence similarities	Belongs to the glycosyltransferase 7 family.
Biophysicochemical properties	Kinetic parameters: KM=238 µM for GlcNAc-B-S-pNP Ref.3

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	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 membrane lipid metabolic process Traceable author statement Ref.2. Source: ProtInc 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 Traceable author statement Ref.2. Source: ProtInc
Molecular_function	N-acetyllactosamine synthase activity Inferred from electronic annotation. Source: EC galactosyltransferase activity Traceable author statement Ref.2. 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 – 344	344	Beta-1,4-galactosyltransferase 4		PRO_0000080542
Regions
	Topological domain	1 – 12	12	Cytoplasmic Potential
	Transmembrane	13 – 38	26	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	39 – 344	306	Lumenal Potential
Sites
	Metal binding	196	1	Manganese By similarity
	Metal binding	289	1	Manganese By similarity
Amino acid modifications
	Glycosylation	220	1	N-linked (GlcNAc...) Potential
	Glycosylation	335	1	N-linked (GlcNAc...) Potential
	Disulfide bond	77 ↔ 118		By similarity
	Disulfide bond	189 ↔ 208		By similarity
Natural variations
	Natural variant	116	1	Q → E. Ref.4 Ref.6 Ref.7 Corresponds to variant rs3764779 [ dbSNP | Ensembl ].		VAR_022697
Experimental info
	Sequence conflict	182	1	L → R in AAG50147. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	O60513 [UniParc]. Last modified August 1, 1998. Version 1. Checksum: 6B7742676FE8A58B	FASTA	344	40,041
	10 20 30 40 50 60 MGFNLTFHLS YKFRLLLLLT LCLTVVGWAT SNYFVGAIQE IPKAKEFMAN FHKTLILGKG 70 80 90 100 110 120 KTLTNEASTK KVELDNCPSV SPYLRGQSKL IFKPDLTLEE VQAENPKVSR GRYRPQECKA 130 140 150 160 170 180 LQRVAILVPH RNREKHLMYL LEHLHPFLQR QQLDYGIYVI HQAEGKKFNR AKLLNVGYLE 190 200 210 220 230 240 ALKEENWDCF IFHDVDLVPE NDFNLYKCEE HPKHLVVGRN STGYRLRYSG YFGGVTALSR 250 260 270 280 290 300 EQFFKVNGFS NNYWGWGGED DDLRLRVELQ RMKISRPLPE VGKYTMVFHT RDKGNEVNAE 310 320 330 340 RMKLLHQVSR VWRTDGLSSC SYKLVSVEHN PLYINITVDF WFGA

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]	"Cloning of a novel member of the UDP-galactose:beta-N-acetylglucosamine beta1,4-galactosyltransferase family, beta4Gal-T4, involved in glycosphingolipid biosynthesis." Schwientek T., Almeida R., Levery S.B., Holmes E.H., Bennett E., Clausen H. J. Biol. Chem. 273:29331-29340(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CATALYTIC ACTIVITY.
[3]	"Galactosylation of N-linked oligosaccharides by human beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells." Guo S., Sato T., Shirane K., Furukawa K. Glycobiology 11:813-820(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], BIOPHYSICOCHEMICAL PROPERTIES.
[4]	"Cloning and characterization of a novel member of the human beta-1,4-galactosyltransferase gene family." Fan Y., Yu L., Zhang Q., Jiang Y., Dai F., Chen C., Tu Q., Bi A., Xu Y., Zhao S. Sci. China, Ser. C, Life Sci. 42:337-345(1999) Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLU-116.
[5]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[6]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLU-116. Tissue: Fetal kidney.
[7]	"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], VARIANT GLU-116. Tissue: Colon and Muscle.
[8]	"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.

Web resources

GGDB

GlycoGene database

Functional Glycomics Gateway - GTase

Beta-1,4-galactosyltransferase 4

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF038662 mRNA. Translation: AAC39735.1. AF022367 mRNA. Translation: AAC72493.1. AB024436 mRNA. Translation: BAA75821.1. AF020920 mRNA. Translation: AAG50147.1. AY359008 mRNA. Translation: AAQ89367.1. CR749555 mRNA. Translation: CAH18352.1. BC004523 mRNA. Translation: AAH04523.1. BC062618 mRNA. Translation: AAH62618.1.
IPI	IPI00030128.
RefSeq	NP_003769.1. NM_003778.3. NP_997708.1. NM_212543.1.
UniGene	Hs.13225.
3D structure databases
ProteinModelPortal	O60513.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000352144.
Protein family/group databases
CAZy	GT7. Glycosyltransferase Family 7.
PTM databases
PhosphoSite	O60513.
Proteomic databases
PaxDb	O60513.
PRIDE	O60513.
Protocols and materials databases
DNASU	8702.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000359213; ENSP00000352144; ENSG00000121578. ENST00000393765; ENSP00000377360; ENSG00000121578. ENST00000483209; ENSP00000420161; ENSG00000121578.
GeneID	8702.
KEGG	hsa:8702.
UCSC	uc003ece.1. human.
Organism-specific databases
CTD	8702.
GeneCards	GC03M118930.
HGNC	HGNC:927. B4GALT4.
HPA	HPA046819.
MIM	604015. gene.
neXtProt	NX_O60513.
PharmGKB	PA25226.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG327897.
HOGENOM	HOG000231027.
HOVERGEN	HBG058334.
InParanoid	O60513.
KO	K07969.
OMA	VWRTDGL.
OrthoDB	EOG40P474.
Enzyme and pathway databases
BioCyc	MetaCyc:HS04504-MONOMER.
Reactome	REACT_111217. Metabolism. REACT_116125. Disease. REACT_17015. Metabolism of proteins.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	O60513.
Bgee	O60513.
CleanEx	HS_B4GALT4.
Genevestigator	O60513.
GermOnline	ENSG00000121578. 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
DrugBank	DB00141. N-Acetyl-D-glucosamine.
GenomeRNAi	8702.
NextBio	32625.
SOURCE	Search...

Entry information

Entry name

B4GT4_HUMAN

Accession

Primary (citable) accession number: O60513
Secondary accession number(s): Q68D68, Q9BSW3, Q9C078

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
Last sequence update:	August 1, 1998
Last modified:	May 1, 2013
This is version 126 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.