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Protein

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1

Gene

B3GALNT1

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

Functioni

Transfers N-acetylgalactosamine onto globotriaosylceramide (PubMed:10993897). Plays a critical role in preimplantation stage embryonic development (By similarity).By similarity1 Publication

Catalytic activityi

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.1 Publication

Cofactori

Mg2+2 Publications

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.

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionBlood group antigen, Glycosyltransferase, Transferase
LigandMagnesium

Enzyme and pathway databases

BioCyciMetaCyc:HS09918-MONOMER
BRENDAi2.4.1.122 2681
2.4.1.62 2681
2.4.1.79 2681
2.4.1.88 2681
ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
UniPathwayi
UPA00378

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

Chemistry databases

SwissLipidsiSLP:000000789

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 (EC:2.4.1.791 Publication)
Short name:
Beta-1,3-GalNAc-T1
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 namesi
Name:B3GALNT1
Synonyms:B3GALT3
ORF Names:UNQ531/PRO1074
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000169255.13
HGNCiHGNC:918 B3GALNT1
MIMi603094 gene
neXtProtiNX_O75752

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 20CytoplasmicSequence analysisAdd BLAST20
Transmembranei21 – 43Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST23
Topological domaini44 – 331LumenalSequence analysisAdd BLAST288

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi8706
MalaCardsiB3GALNT1
MIMi111400 phenotype
615021 phenotype
OpenTargetsiENSG00000169255
PharmGKBiPA25211

Polymorphism and mutation databases

BioMutaiB3GALNT1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002191531 – 331UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1Add BLAST331

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi72N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi154N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi198N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi212N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi326N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiO75752
MaxQBiO75752
PaxDbiO75752
PeptideAtlasiO75752
PRIDEiO75752
ProteomicsDBi50180

PTM databases

iPTMnetiO75752
PhosphoSitePlusiO75752

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiENSG00000169255 Expressed in 203 organ(s), highest expression level in heart
CleanExiHS_B3GALNT1
ExpressionAtlasiO75752 baseline and differential
GenevisibleiO75752 HS

Organism-specific databases

HPAiHPA041204

Interactioni

Protein-protein interaction databases

BioGridi114249, 27 interactors
IntActiO75752, 1 interactor
STRINGi9606.ENSP00000323479

Structurei

3D structure databases

ProteinModelPortaliO75752
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2287 Eukaryota
ENOG410ZZ1B LUCA
GeneTreeiENSGT00760000118879
HOGENOMiHOG000059604
HOVERGENiHBG101817
InParanoidiO75752
KOiK00719
OMAiRFTLREH
OrthoDBiEOG091G0AXM
PhylomeDBiO75752
TreeFamiTF318639

Family and domain databases

InterProiView protein in InterPro
IPR002659 Glyco_trans_31
PANTHERiPTHR11214 PTHR11214, 1 hit
PfamiView protein in Pfam
PF01762 Galactosyl_T, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 8 potential isoforms that are computationally mapped.Show allAlign All

O75752-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM
60 70 80 90 100
YFYEYEPIYR QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT
110 120 130 140 150
WGEKKSWWGY EVLTFFLLGQ EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD
160 170 180 190 200
TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD TDVFINTGNL VKYLLNLNHS
210 220 230 240 250
EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG LGYIMSRDLV
260 270 280 290 300
PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC
310 320 330
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y
Length:331
Mass (Da):39,512
Last modified:November 1, 1998 - v1
Checksum:i3556BCAF1646F702
GO

Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EVF0E7EVF0_HUMAN
Hexosyltransferase
B3GALNT1
91Annotation score:
C9JD16C9JD16_HUMAN
Hexosyltransferase
B3GALNT1
58Annotation score:
E7EVS2E7EVS2_HUMAN
Hexosyltransferase
B3GALNT1
111Annotation score:
C9J8U7C9J8U7_HUMAN
Hexosyltransferase
B3GALNT1
54Annotation score:
C9J0F8C9J0F8_HUMAN
Hexosyltransferase
B3GALNT1
65Annotation score:
C9JRV6C9JRV6_HUMAN
Hexosyltransferase
B3GALNT1
41Annotation score:
C9JXR0C9JXR0_HUMAN
Hexosyltransferase
B3GALNT1
45Annotation score:
C9J6I7C9J6I7_HUMAN
UDP-GalNAc:beta-1,3-N-acetylgalacto...
B3GALNT1
150Annotation score:

Polymorphismi

Genetic variation in B3GALNT1 is responsible for the blood group P1PK system [MIMi: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.1 Publication
B3GALNT1 activity is responsible for the globoside blood group system (GLOB), which is defined by the P antigen [MIMi:615021].1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025091126D → N1 PublicationCorresponds to variant dbSNP:rs2231257Ensembl.1
Natural variantiVAR_019646266E → A Associated with P2(k) phenotype. 1 PublicationCorresponds to variant dbSNP:rs28937582EnsemblClinVar.1
Natural variantiVAR_019647271G → R Associated with P1(k) phenotype. 1 PublicationCorresponds to variant dbSNP:rs104893683EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS3193.1
RefSeqiNP_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_005247859.4
UniGeneiHs.418062
Hs.606694

Genome annotation databases

EnsembliENST00000320474; ENSP00000323479; ENSG00000169255
ENST00000392779; ENSP00000376530; ENSG00000169255
ENST00000392781; ENSP00000376532; ENSG00000169255
ENST00000473285; ENSP00000418226; ENSG00000169255
ENST00000488170; ENSP00000420163; ENSG00000169255
GeneIDi8706
KEGGihsa:8706
UCSCiuc003fdv.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

dbRBC/BGMUT

Blood group antigen gene mutation database

SeattleSNPs
Functional Glycomics Gateway - GTase

Beta-1,3-galactosyltransferase 3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS3193.1
RefSeqiNP_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_005247859.4
UniGeneiHs.418062
Hs.606694

3D structure databases

ProteinModelPortaliO75752
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114249, 27 interactors
IntActiO75752, 1 interactor
STRINGi9606.ENSP00000323479

Chemistry databases

SwissLipidsiSLP:000000789

Protein family/group databases

CAZyiGT31 Glycosyltransferase Family 31

PTM databases

iPTMnetiO75752
PhosphoSitePlusiO75752

Polymorphism and mutation databases

BioMutaiB3GALNT1

Proteomic databases

EPDiO75752
MaxQBiO75752
PaxDbiO75752
PeptideAtlasiO75752
PRIDEiO75752
ProteomicsDBi50180

Protocols and materials databases

DNASUi8706
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320474; ENSP00000323479; ENSG00000169255
ENST00000392779; ENSP00000376530; ENSG00000169255
ENST00000392781; ENSP00000376532; ENSG00000169255
ENST00000473285; ENSP00000418226; ENSG00000169255
ENST00000488170; ENSP00000420163; ENSG00000169255
GeneIDi8706
KEGGihsa:8706
UCSCiuc003fdv.4 human

Organism-specific databases

CTDi8706
DisGeNETi8706
EuPathDBiHostDB:ENSG00000169255.13
GeneCardsiB3GALNT1
HGNCiHGNC:918 B3GALNT1
HPAiHPA041204
MalaCardsiB3GALNT1
MIMi111400 phenotype
603094 gene
615021 phenotype
neXtProtiNX_O75752
OpenTargetsiENSG00000169255
PharmGKBiPA25211
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2287 Eukaryota
ENOG410ZZ1B LUCA
GeneTreeiENSGT00760000118879
HOGENOMiHOG000059604
HOVERGENiHBG101817
InParanoidiO75752
KOiK00719
OMAiRFTLREH
OrthoDBiEOG091G0AXM
PhylomeDBiO75752
TreeFamiTF318639

Enzyme and pathway databases

UniPathwayi
UPA00378

BioCyciMetaCyc:HS09918-MONOMER
BRENDAi2.4.1.122 2681
2.4.1.62 2681
2.4.1.79 2681
2.4.1.88 2681
ReactomeiR-HSA-1660662 Glycosphingolipid metabolism

Miscellaneous databases

ChiTaRSiB3GALNT1 human
GeneWikiiB3GALNT1
GenomeRNAii8706
PROiPR:O75752
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169255 Expressed in 203 organ(s), highest expression level in heart
CleanExiHS_B3GALNT1
ExpressionAtlasiO75752 baseline and differential
GenevisibleiO75752 HS

Family and domain databases

InterProiView protein in InterPro
IPR002659 Glyco_trans_31
PANTHERiPTHR11214 PTHR11214, 1 hit
PfamiView protein in Pfam
PF01762 Galactosyl_T, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiB3GL1_HUMAN
AccessioniPrimary (citable) accession number: O75752
Secondary accession number(s): D3DNM4
, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 158 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  7. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
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