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Protein

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

Gene

B3GALNT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transfers N-acetylgalactosamine onto globotriaosylceramide.1 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

  • glycosphingolipid metabolic process Source: Reactome
  • oligosaccharide biosynthetic process Source: Ensembl
  • protein glycosylation Source: ProtInc

Keywordsi

Molecular functionBlood group antigen, Glycosyltransferase, Transferase
LigandMagnesium

Enzyme and pathway databases

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.
UniPathwayiUPA00378.

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

HGNCiHGNC:918. B3GALNT1.

Subcellular locationi

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

GO - Cellular componenti

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi8706.
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.

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.
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.

Sequencei

Sequence statusi: Complete.

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

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:rs28937582Ensembl.1
Natural variantiVAR_019647271G → R Associated with P1(k) phenotype. 1 PublicationCorresponds to variant dbSNP:rs104893683Ensembl.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

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: August 30, 2017
This is version 149 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. Blood group antigen proteins
    Nomenclature of blood group antigens and list of entries
  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. SIMILARITY comments
    Index of protein domains and families