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O75752

- B3GL1_HUMAN

UniProt

O75752 - B3GL1_HUMAN

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
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    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

    Magnesium.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

    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

    GO - Cellular componenti

    1. Golgi membrane Source: UniProtKB-SubCell
    2. integral component of membrane Source: UniProtKB-KW

    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

    ArrayExpressiO75752.
    BgeeiO75752.
    CleanExiHS_B3GALNT1.
    GenevestigatoriO75752.

    Organism-specific databases

    HPAiHPA041204.

    Interactioni

    Protein-protein interaction databases

    BioGridi114249. 1 interaction.
    IntActiO75752. 1 interaction.
    STRINGi9606.ENSP00000323479.

    Structurei

    3D structure databases

    ProteinModelPortaliO75752.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2020CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini44 – 331288LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei21 – 4323Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 31 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG269758.
    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

    MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM    50
    YFYEYEPIYR QDFHFTLREH SNCSHQNPFL VILVTSHPSD VKARQAIRVT 100
    WGEKKSWWGY EVLTFFLLGQ EAEKEDKMLA LSLEDEHLLY GDIIRQDFLD 150
    TYNNLTLKTI MAFRWVTEFC PNAKYVMKTD TDVFINTGNL VKYLLNLNHS 200
    EKFFTGYPLI DNYSYRGFYQ KTHISYQEYP FKVFPPYCSG LGYIMSRDLV 250
    PRIYEMMGHV KPIKFEDVYV GICLNLLKVN IHIPEDTNLF FLYRIHLDVC 300
    QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y 331
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 1 interaction.
    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.
    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

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

    Gene expression databases

    ArrayExpressi O75752.
    Bgeei O75752.
    CleanExi HS_B3GALNT1.
    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

    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: October 1, 2014
    This is version 125 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