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O75752

- B3GL1_HUMAN

UniProt

O75752 - B3GL1_HUMAN

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Protein

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

Gene

B3GALNT1

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

Cofactori

Mg2+2 Publications

Pathwayi

GO - Molecular functioni

  1. galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity Source: UniProtKB-EC
  2. UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity Source: ProtInc

GO - Biological processi

  1. oligosaccharide biosynthetic process Source: Ensembl
  2. protein glycosylation Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Blood group antigen, Glycosyltransferase, Transferase

Keywords - Ligandi

Magnesium

Enzyme and pathway databases

BRENDAi2.4.1.62. 2681.
UniPathwayiUPA00378.

Protein family/group databases

CAZyiGT31. Glycosyltransferase Family 31.

Names & Taxonomyi

Protein namesi
Recommended name:
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 (EC:2.4.1.79)
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
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:918. B3GALNT1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei21 – 4323Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini44 – 331288LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: UniProtKB-KW
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

MIMi111400. phenotype.
615021. phenotype.
PharmGKBiPA25211.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 331331UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1PRO_0000219153Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi72 – 721N-linked (GlcNAc...)Sequence Analysis
Glycosylationi154 – 1541N-linked (GlcNAc...)Sequence Analysis
Glycosylationi198 – 1981N-linked (GlcNAc...)Sequence Analysis
Glycosylationi212 – 2121N-linked (GlcNAc...)Sequence Analysis
Glycosylationi326 – 3261N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiO75752.
PaxDbiO75752.
PRIDEiO75752.

PTM databases

PhosphoSiteiO75752.

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

BgeeiO75752.
CleanExiHS_B3GALNT1.
ExpressionAtlasiO75752. baseline and differential.
GenevestigatoriO75752.

Organism-specific databases

HPAiHPA041204.

Interactioni

Protein-protein interaction databases

BioGridi114249. 24 interactions.
IntActiO75752. 1 interaction.
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

eggNOGiNOG269758.
GeneTreeiENSGT00760000118879.
HOGENOMiHOG000059604.
HOVERGENiHBG101817.
InParanoidiO75752.
KOiK00719.
OMAiCPNAKYI.
OrthoDBiEOG7M3J0F.
PhylomeDBiO75752.
TreeFamiTF318639.

Family and domain databases

InterProiIPR002659. Glyco_trans_31.
[Graphical view]
PANTHERiPTHR11214. PTHR11214. 1 hit.
PfamiPF01762. Galactosyl_T. 1 hit.
[Graphical view]

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

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti126 – 1261D → N.1 Publication
Corresponds to variant rs2231257 [ dbSNP | Ensembl ].
VAR_025091
Natural varianti266 – 2661E → A Associated with P2(k) phenotype. 1 Publication
Corresponds to variant rs28937582 [ dbSNP | Ensembl ].
VAR_019646
Natural varianti271 – 2711G → R Associated with P1(k) phenotype. 1 Publication
VAR_019647

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_005247859.2.
XP_005247918.1. XM_005247861.1.
XP_005247919.1. XM_005247862.1.
XP_005247921.1. XM_005247864.1.
XP_006713865.1. XM_006713802.1.
XP_006713866.1. XM_006713803.1.
XP_006713867.1. XM_006713804.1.
XP_006713868.1. XM_006713805.1.
XP_006713869.1. XM_006713806.1.
UniGeneiHs.418062.

Genome annotation databases

EnsembliENST00000320474; ENSP00000323479; ENSG00000169255.
ENST00000392779; ENSP00000376530; ENSG00000169255.
ENST00000392781; ENSP00000376532; ENSG00000169255.
ENST00000473285; ENSP00000418226; ENSG00000169255.
ENST00000488170; ENSP00000420163; ENSG00000169255.
GeneIDi8706.
KEGGihsa:8706.
UCSCiuc003fdv.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

dbRBC/BGMUT

Blood group antigen gene mutation database

GGDB

GlycoGene 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 .
CCDSi CCDS3193.1.
RefSeqi 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.
XP_005247916.1. XM_005247859.2.
XP_005247918.1. XM_005247861.1.
XP_005247919.1. XM_005247862.1.
XP_005247921.1. XM_005247864.1.
XP_006713865.1. XM_006713802.1.
XP_006713866.1. XM_006713803.1.
XP_006713867.1. XM_006713804.1.
XP_006713868.1. XM_006713805.1.
XP_006713869.1. XM_006713806.1.
UniGenei Hs.418062.

3D structure databases

ProteinModelPortali O75752.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114249. 24 interactions.
IntActi O75752. 1 interaction.
STRINGi 9606.ENSP00000323479.

Protein family/group databases

CAZyi GT31. Glycosyltransferase Family 31.

PTM databases

PhosphoSitei O75752.

Proteomic databases

MaxQBi O75752.
PaxDbi O75752.
PRIDEi O75752.

Protocols and materials databases

DNASUi 8706.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000320474 ; ENSP00000323479 ; ENSG00000169255 .
ENST00000392779 ; ENSP00000376530 ; ENSG00000169255 .
ENST00000392781 ; ENSP00000376532 ; ENSG00000169255 .
ENST00000473285 ; ENSP00000418226 ; ENSG00000169255 .
ENST00000488170 ; ENSP00000420163 ; ENSG00000169255 .
GeneIDi 8706.
KEGGi hsa:8706.
UCSCi uc003fdv.3. human.

Organism-specific databases

CTDi 8706.
GeneCardsi GC03M160801.
HGNCi HGNC:918. B3GALNT1.
HPAi HPA041204.
MIMi 111400. phenotype.
603094. gene.
615021. phenotype.
neXtProti NX_O75752.
PharmGKBi PA25211.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG269758.
GeneTreei ENSGT00760000118879.
HOGENOMi HOG000059604.
HOVERGENi HBG101817.
InParanoidi O75752.
KOi K00719.
OMAi CPNAKYI.
OrthoDBi EOG7M3J0F.
PhylomeDBi O75752.
TreeFami TF318639.

Enzyme and pathway databases

UniPathwayi UPA00378 .
BRENDAi 2.4.1.62. 2681.

Miscellaneous databases

ChiTaRSi B3GALNT1. human.
GeneWikii B3GALNT1.
GenomeRNAii 8706.
NextBioi 32645.
PROi O75752.
SOURCEi Search...

Gene expression databases

Bgeei O75752.
CleanExi HS_B3GALNT1.
ExpressionAtlasi O75752. baseline and differential.
Genevestigatori O75752.

Family and domain databases

InterProi IPR002659. Glyco_trans_31.
[Graphical view ]
PANTHERi PTHR11214. PTHR11214. 1 hit.
Pfami PF01762. Galactosyl_T. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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: BrainImported.

Entry informationi

Entry nameiB3GL1_HUMAN
AccessioniPrimary (citable) accession number: O75752
Secondary accession number(s): D3DNM4
, Q3Y531, Q6IAI5, Q8NFM8, Q8NFM9, Q9HA06
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: November 1, 1998
Last modified: November 26, 2014
This is version 127 of the entry and version 1 of the sequence. [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

External Data

Dasty 3