O75752 (B3GL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
Short name=Beta-1,3-GalNAc-T1
EC=2.4.1.79

Alternative name(s):
Beta-1,3-galactosyltransferase 3
Short name=Beta-1,3-GalTase 3
Short name=Beta3Gal-T3
Short name=Beta3GalT3
Short name=b3Gal-T3
Beta-3-Gx-T3
Galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase
Globoside synthase
UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase

Gene names

Name:	B3GALNT1
Synonyms:	B3GALT3
ORF Names:	UNQ531/PRO1074

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	331 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Transfers N-acetylgalactosamine onto globotriaosylceramide. Ref.2
Catalytic activity	UDP-N-acetyl-alpha-D-galactosamine + alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = UDP + N-acetyl-beta-D-galactosaminyl-(1->3)-alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.
Cofactor	Magnesium. Ref.1 Ref.2
Pathway	Protein modification; protein glycosylation.
Subcellular location	Golgi apparatus membrane; Single-pass type II membrane protein.
Tissue specificity	Higher expression in heart and brain, and to a lesser extent in lung, placenta, kidney and testis. Lower expression in liver, spleen and stomach. No expression in skeletal muscle. Ref.1 Ref.2
Polymorphism	Genetic variation in B3GALNT1 is responsible for the P system blood group phenotypes [MIM:111400]. Different combinations or absence of the P blood group system antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and P. Genetic variation in B3GALT3 determines the P1(k) and P2(k) phenotype, which is rare and lack the capability to synthesize P antigen identified as globoside.
Sequence similarities	Belongs to the glycosyltransferase 31 family.

Ontologies

Keywords
Cellular component	Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Domain	Signal-anchor Transmembrane Transmembrane helix
Ligand	Magnesium
Molecular function	Blood group antigen Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	oligosaccharide biosynthetic process Inferred from electronic annotation. Source: Compara protein glycosylation Traceable author statement Ref.1. Source: ProtInc
Cellular_component	Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity Traceable author statement Ref.1. Source: ProtInc galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 331	331	UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1		PRO_0000219153
Regions
	Topological domain	1 – 20	20	Cytoplasmic Potential
	Transmembrane	21 – 43	23	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	44 – 331	288	Lumenal Potential
Amino acid modifications
	Glycosylation	72	1	N-linked (GlcNAc...) Potential
	Glycosylation	154	1	N-linked (GlcNAc...) Potential
	Glycosylation	198	1	N-linked (GlcNAc...) Potential
	Glycosylation	212	1	N-linked (GlcNAc...) Potential
	Glycosylation	326	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	126	1	D → N. Ref.8 Corresponds to variant rs2231257 [ dbSNP | Ensembl ].		VAR_025091
	Natural variant	266	1	E → A in an French with P2(k) phenotype. Ref.5 Corresponds to variant rs28937582 [ dbSNP | Ensembl ].		VAR_019646
	Natural variant	271	1	G → R in an English with P1(k) phenotype. Ref.5		VAR_019647

Sequences

	Sequence		Length	Mass (Da)
	O75752 [UniParc]. Last modified November 1, 1998. Version 1. Checksum: 3556BCAF1646F702	FASTA	331	39,512
	10 20 30 40 50 60 MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEYEPIYR 70 80 90 100 110 120 QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT WGEKKSWWGY EVLTFFLLGQ 130 140 150 160 170 180 EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD 190 200 210 220 230 240 TDVFINTGNL VKYLLNLNHS EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG 250 260 270 280 290 300 LGYIMSRDLV PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC 310 320 330 QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family." Amado M., Almeida R., Carneiro F., Levery S.B., Holmes E.H., Nomoto M., Hollingsworth M.A., Hassan H., Schwientek T., Nielsen P.A., Bennett E.P., Clausen H. J. Biol. Chem. 273:12770-12778(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], COFACTOR, TISSUE SPECIFICITY.
[2]	"Expression cloning of human globoside synthase cDNAs. Identification of beta3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta1,3-N-acetylgalactosaminyltransferase." Okajima T., Nakamura Y., Uchikawa M., Haslam D.B., Numata S., Furukawa K., Urano T., Furukawa K. J. Biol. Chem. 275:40498-40503(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, COFACTOR, TISSUE SPECIFICITY. Tissue: Kidney.
[3]	Luo W.Q., Chen J.H., Huang X.W., Zhou Y., Zhou H.J., Hu S.N., Yuan J.G. Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[4]	Zhou H.J., Huang X.W., Zhou Y., Hu S.L., Yuan J.G., Qiang B.Q. Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[5]	"Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene." Hellberg A., Poole J., Olsson M.L. J. Biol. Chem. 277:29455-29459(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ALA-266 AND ARG-271.
[6]	"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].
[7]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[8]	SeattleSNPs variation discovery resource Submitted (AUG-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ASN-126.
[9]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]	"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: Brain.
+	Additional computationally mapped references.

Web resources

dbRBC/BGMUT

Blood group antigen gene mutation database

GGDB

GlycoGene database

SeattleSNPs

Functional Glycomics Gateway - GTase

Beta-1,3-galactosyltransferase 3

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y15062 mRNA. Translation: CAA75346.1. AB050855 mRNA. Translation: BAB17690.1. AB050856 mRNA. Translation: BAB17691.1. AF132731 mRNA. Translation: AAF66442.1. AF154848 mRNA. Translation: AAF72106.1. AF494105 Genomic DNA. Translation: AAM96011.1. AF494106 Genomic DNA. Translation: AAM96012.1. AY359049 mRNA. Translation: AAQ89408.1. CR457170 mRNA. Translation: CAG33451.1. DQ158095 Genomic DNA. Translation: AAZ67917.1. CH471052 Genomic DNA. Translation: EAW78621.1. CH471052 Genomic DNA. Translation: EAW78623.1. CH471052 Genomic DNA. Translation: EAW78624.1. CH471052 Genomic DNA. Translation: EAW78625.1. BC047618 mRNA. Translation: AAH47618.1.
IPI	IPI00021552.
RefSeq	NP_001033717.1. NM_001038628.1. NP_003772.1. NM_003781.3. NP_149357.1. NM_033167.2. NP_149358.1. NM_033168.2. NP_149359.1. NM_033169.2.
UniGene	Hs.418062.
3D structure databases
ProteinModelPortal	O75752.
ModBase	Search...
Protein-protein interaction databases
IntAct	O75752. 1 interaction.
STRING	9606.ENSP00000323479.
Protein family/group databases
CAZy	GT31. Glycosyltransferase Family 31.
PTM databases
PhosphoSite	O75752.
Proteomic databases
PaxDb	O75752.
PRIDE	O75752.
Protocols and materials databases
DNASU	8706.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000320474; ENSP00000323479; ENSG00000169255. ENST00000392779; ENSP00000376530; ENSG00000169255. ENST00000392780; ENSP00000376531; ENSG00000169255. ENST00000392781; ENSP00000376532; ENSG00000169255. ENST00000473285; ENSP00000418226; ENSG00000169255. ENST00000488170; ENSP00000420163; ENSG00000169255.
GeneID	8706.
KEGG	hsa:8706.
UCSC	uc003fdv.3. human.
Organism-specific databases
CTD	8706.
GeneCards	GC03M160801.
HGNC	HGNC:918. B3GALNT1.
HPA	HPA041204.
MIM	111400. phenotype. 603094. gene.
neXtProt	NX_O75752.
PharmGKB	PA25211.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG269758.
HOGENOM	HOG000059604.
HOVERGEN	HBG101817.
InParanoid	O75752.
KO	K00719.
OMA	CPNAKYI.
OrthoDB	EOG4PK28G.
Enzyme and pathway databases
BRENDA	2.4.1.62. 2681.
UniPathway	UPA00378.
Gene expression databases
ArrayExpress	O75752.
Bgee	O75752.
CleanEx	HS_B3GALNT1.
Genevestigator	O75752.
GermOnline	ENSG00000169255. Homo sapiens.
Family and domain databases
InterPro	IPR002659. Glyco_trans_31. [Graphical view]
PANTHER	PTHR11214. PTHR11214. 1 hit.
Pfam	PF01762. Galactosyl_T. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	8706.
NextBio	32645.
SOURCE	Search...

Entry information

Entry name

B3GL1_HUMAN

Accession

Primary (citable) accession number: O75752
Secondary accession number(s): D3DNM4 , Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 16, 2004
Last sequence update:	November 1, 1998
Last modified:	April 3, 2013
This is version 116 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.