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O43505

- B3GN1_HUMAN

UniProt

O43505 - B3GN1_HUMAN

Protein

N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase

Gene

B3GNT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 109 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
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    Functioni

    Can initiate the synthesis or the elongation of the linear poly-N-acetyllactosaminoglycans. Involved in alpha-dystroglycan (DAG1) glycosylation.2 Publications

    Catalytic activityi

    UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R.

    Pathwayi

    GO - Molecular functioni

    1. N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. axon guidance Source: Ensembl
    2. carbohydrate metabolic process Source: Reactome
    3. glycosaminoglycan metabolic process Source: Reactome
    4. keratan sulfate biosynthetic process Source: Reactome
    5. keratan sulfate metabolic process Source: Reactome
    6. poly-N-acetyllactosamine biosynthetic process Source: UniProtKB
    7. protein glycosylation Source: UniProtKB-UniPathway
    8. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    BioCyciMetaCyc:HS10821-MONOMER.
    ReactomeiREACT_121120. Keratan sulfate biosynthesis.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT49. Glycosyltransferase Family 49.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase (EC:2.4.1.149)
    Alternative name(s):
    I-beta-1,3-N-acetylglucosaminyltransferase
    Short name:
    iGnT
    Poly-N-acetyllactosamine extension enzyme
    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1
    Gene namesi
    Name:B3GNT1
    Synonyms:B3GNT6
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:15685. B3GNT1.

    Subcellular locationi

    Golgi apparatus membrane 1 Publication; Single-pass type II membrane protein 1 Publication

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. Golgi membrane Source: Reactome
    3. integral component of Golgi membrane Source: UniProtKB

    Keywords - Cellular componenti

    Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]: An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti390 – 3901N → D in MDDGA13. 1 Publication
    VAR_069989
    Natural varianti406 – 4061A → V in MDDGA13. 1 Publication
    VAR_069990

    Keywords - Diseasei

    Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

    Organism-specific databases

    MIMi615287. phenotype.
    Orphaneti899. Walker-Warburg syndrome.
    PharmGKBiPA164741279.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 415415N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferasePRO_0000080555Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi204 – 2041N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi300 – 3001N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiO43505.
    PaxDbiO43505.
    PeptideAtlasiO43505.
    PRIDEiO43505.

    PTM databases

    PhosphoSiteiO43505.

    Expressioni

    Tissue specificityi

    In the adult, highly expressed in heart, brain, skeletal muscle and kidney and to a lesser extent in placenta, pancreas, spleen, prostate, testis, ovary, small intestine and colon. Very weak expression in lung, liver, thymus and peripheral blood leukocytes. In fetal highly expressed in brain and kidney and to a lesser extent in lung and liver.1 Publication

    Gene expression databases

    ArrayExpressiO43505.
    BgeeiO43505.
    CleanExiHS_B3GNT1.
    HS_B3GNT6.
    GenevestigatoriO43505.

    Organism-specific databases

    HPAiHPA015484.

    Interactioni

    Protein-protein interaction databases

    BioGridi116229. 4 interactions.
    DIPiDIP-48921N.
    IntActiO43505. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliO43505.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 88CytoplasmicSequence Analysis
    Topological domaini37 – 415379LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei9 – 3628Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 49 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG325995.
    HOGENOMiHOG000064521.
    HOVERGENiHBG080885.
    InParanoidiO43505.
    KOiK00741.
    OMAiMPMSKTE.
    OrthoDBiEOG7PVWPF.
    PhylomeDBiO43505.
    TreeFamiTF319168.

    Family and domain databases

    InterProiIPR026603. N-AclacN_B-1_3-N-AclacNTrfase.
    [Graphical view]
    PANTHERiPTHR12270:SF20. PTHR12270:SF20. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    O43505-1 [UniParc]FASTAAdd to Basket

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    MQMSYAIRCA FYQLLLAALM LVAMLQLLYL SLLSGLHGQE EQDQYFEFFP    50
    PSPRSVDQVK AQLRTALASG GVLDASGDYR VYRGLLKTTM DPNDVILATH 100
    ASVDNLLHLS GLLERWEGPL SVSVFAATKE EAQLATVLAY ALSSHCPDMR 150
    ARVAMHLVCP SRYEAAVPDP REPGEFALLR SCQEVFDKLA RVAQPGINYA 200
    LGTNVSYPNN LLRNLAREGA NYALVIDVDM VPSEGLWRGL REMLDQSNQW 250
    GGTALVVPAF EIRRARRMPM NKNELVQLYQ VGEVRPFYYG LCTPCQAPTN 300
    YSRWVNLPEE SLLRPAYVVP WQDPWEPFYV AGGKVPTFDE RFRQYGFNRI 350
    SQACELHVAG FDFEVLNEGF LVHKGFKEAL KFHPQKEAEN QHNKILYRQF 400
    KQELKAKYPN SPRRC 415
    Length:415
    Mass (Da):47,119
    Last modified:June 1, 1998 - v1
    Checksum:i432D00980EFE2B35
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti253 – 2531T → S.1 Publication
    Corresponds to variant rs35429253 [ dbSNP | Ensembl ].
    VAR_025019
    Natural varianti390 – 3901N → D in MDDGA13. 1 Publication
    VAR_069989
    Natural varianti406 – 4061A → V in MDDGA13. 1 Publication
    VAR_069990

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF029893 mRNA. Translation: AAC39538.1.
    DQ066422 Genomic DNA. Translation: AAY46155.1.
    BC021965 mRNA. Translation: AAH21965.1.
    CCDSiCCDS8136.1.
    RefSeqiNP_006867.1. NM_006876.2.
    UniGeneiHs.8526.

    Genome annotation databases

    EnsembliENST00000311181; ENSP00000309096; ENSG00000174684.
    GeneIDi11041.
    KEGGihsa:11041.
    UCSCiuc001ohr.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    SeattleSNPs
    Functional Glycomics Gateway - GTase

    N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF029893 mRNA. Translation: AAC39538.1 .
    DQ066422 Genomic DNA. Translation: AAY46155.1 .
    BC021965 mRNA. Translation: AAH21965.1 .
    CCDSi CCDS8136.1.
    RefSeqi NP_006867.1. NM_006876.2.
    UniGenei Hs.8526.

    3D structure databases

    ProteinModelPortali O43505.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 116229. 4 interactions.
    DIPi DIP-48921N.
    IntActi O43505. 1 interaction.

    Protein family/group databases

    CAZyi GT49. Glycosyltransferase Family 49.

    PTM databases

    PhosphoSitei O43505.

    Proteomic databases

    MaxQBi O43505.
    PaxDbi O43505.
    PeptideAtlasi O43505.
    PRIDEi O43505.

    Protocols and materials databases

    DNASUi 11041.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311181 ; ENSP00000309096 ; ENSG00000174684 .
    GeneIDi 11041.
    KEGGi hsa:11041.
    UCSCi uc001ohr.3. human.

    Organism-specific databases

    CTDi 11041.
    GeneCardsi GC11M066112.
    HGNCi HGNC:15685. B3GNT1.
    HPAi HPA015484.
    MIMi 605517. gene.
    615287. phenotype.
    neXtProti NX_O43505.
    Orphaneti 899. Walker-Warburg syndrome.
    PharmGKBi PA164741279.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG325995.
    HOGENOMi HOG000064521.
    HOVERGENi HBG080885.
    InParanoidi O43505.
    KOi K00741.
    OMAi MPMSKTE.
    OrthoDBi EOG7PVWPF.
    PhylomeDBi O43505.
    TreeFami TF319168.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BioCyci MetaCyc:HS10821-MONOMER.
    Reactomei REACT_121120. Keratan sulfate biosynthesis.

    Miscellaneous databases

    GeneWikii B3GNT1.
    GenomeRNAii 11041.
    NextBioi 41959.
    PROi O43505.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43505.
    Bgeei O43505.
    CleanExi HS_B3GNT1.
    HS_B3GNT6.
    Genevestigatori O43505.

    Family and domain databases

    InterProi IPR026603. N-AclacN_B-1_3-N-AclacNTrfase.
    [Graphical view ]
    PANTHERi PTHR12270:SF20. PTHR12270:SF20. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Expression cloning of cDNA encoding a human beta-1,3-N-acetylglucosaminyltransferase that is essential for poly-N-acetyllactosamine synthesis."
      Sasaki K., Kurata-Miura K., Ujita M., Angata K., Nakagawa S., Sekine S., Nishi T., Fukuda M.
      Proc. Natl. Acad. Sci. U.S.A. 94:14294-14299(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY.
    2. SeattleSNPs variation discovery resource
      Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT SER-253.
    3. "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: Colon.
    4. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MDDGA13 ASP-390 AND VAL-406.

    Entry informationi

    Entry nameiB3GN1_HUMAN
    AccessioniPrimary (citable) accession number: O43505
    Secondary accession number(s): Q4TTN0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 19, 2002
    Last sequence update: June 1, 1998
    Last modified: October 1, 2014
    This is version 109 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. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3