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O75752 (B3GL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | 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:
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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length331 AA.
Sequence statusComplete.
Protein existenceEvidence 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 blood group P1PK system [MIM:111400]. Different combinations or absence of the P1PK antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and P. The P1(k) and P2(k) phenotypes are rare and characterized by lack of the P antigen.

B3GALNT1 activity is responsible for the globoside blood group system (GLOB), which is defined by the P antigen [MIM:615021].

Sequence similarities

Belongs to the glycosyltransferase 31 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 331331UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
PRO_0000219153

Regions

Topological domain1 – 2020Cytoplasmic Potential
Transmembrane21 – 4323Helical; Signal-anchor for type II membrane protein; Potential
Topological domain44 – 331288Lumenal Potential

Amino acid modifications

Glycosylation721N-linked (GlcNAc...) Potential
Glycosylation1541N-linked (GlcNAc...) Potential
Glycosylation1981N-linked (GlcNAc...) Potential
Glycosylation2121N-linked (GlcNAc...) Potential
Glycosylation3261N-linked (GlcNAc...) Potential

Natural variations

Natural variant1261D → N. Ref.8
Corresponds to variant rs2231257 [ dbSNP | Ensembl ].
VAR_025091
Natural variant2661E → A Associated with P2(k) phenotype. Ref.5
Corresponds to variant rs28937582 [ dbSNP | Ensembl ].
VAR_019646
Natural variant2711G → R Associated with P1(k) phenotype. Ref.5
VAR_019647

Sequences

Sequence LengthMass (Da)Tools
O75752 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: 3556BCAF1646F702

FASTA33139,512
        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 

« Hide

References

« Hide '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, POLYMORPHISM.
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. expand/collapse author list , 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. expand/collapse author list , 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.
RefSeqNP_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.
XP_005247916.1. XM_005247859.2.
XP_005247918.1. XM_005247861.1.
XP_005247919.1. XM_005247862.1.
XP_005247921.1. XM_005247864.1.
UniGeneHs.418062.

3D structure databases

ProteinModelPortalO75752.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114249. 1 interaction.
IntActO75752. 1 interaction.
STRING9606.ENSP00000323479.

Protein family/group databases

CAZyGT31. Glycosyltransferase Family 31.

PTM databases

PhosphoSiteO75752.

Proteomic databases

PaxDbO75752.
PRIDEO75752.

Protocols and materials databases

DNASU8706.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320474; ENSP00000323479; ENSG00000169255.
ENST00000392779; ENSP00000376530; ENSG00000169255.
ENST00000392780; ENSP00000376531; ENSG00000169255.
ENST00000392781; ENSP00000376532; ENSG00000169255.
ENST00000473285; ENSP00000418226; ENSG00000169255.
ENST00000488170; ENSP00000420163; ENSG00000169255.
GeneID8706.
KEGGhsa:8706.
UCSCuc003fdv.3. human.

Organism-specific databases

CTD8706.
GeneCardsGC03M160801.
HGNCHGNC:918. B3GALNT1.
HPAHPA041204.
MIM111400. phenotype.
603094. gene.
615021. phenotype.
neXtProtNX_O75752.
PharmGKBPA25211.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG269758.
HOGENOMHOG000059604.
HOVERGENHBG101817.
InParanoidO75752.
KOK00719.
OMACPNAKYI.
OrthoDBEOG7M3J0F.
PhylomeDBO75752.
TreeFamTF318639.

Enzyme and pathway databases

BRENDA2.4.1.62. 2681.
UniPathwayUPA00378.

Gene expression databases

ArrayExpressO75752.
BgeeO75752.
CleanExHS_B3GALNT1.
GenevestigatorO75752.

Family and domain databases

InterProIPR002659. Glyco_trans_31.
[Graphical view]
PANTHERPTHR11214. PTHR11214. 1 hit.
PfamPF01762. Galactosyl_T. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiB3GALNT1.
GenomeRNAi8706.
NextBio32645.
PROO75752.
SOURCESearch...

Entry information

Entry nameB3GL1_HUMAN
AccessionPrimary (citable) accession number: O75752
Secondary accession number(s): D3DNM4 expand/collapse secondary AC list , Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: November 1, 1998
Last modified: April 16, 2014
This is version 122 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 3

Human chromosome 3: entries, gene names and cross-references to MIM

Blood group antigen proteins

Nomenclature of blood group antigens and list of entries