Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8NCR0

- B3GL2_HUMAN

UniProt

Q8NCR0 - B3GL2_HUMAN

Protein

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2

Gene

B3GALNT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with high affinity.3 Publications

    Catalytic activityi

    UDP-N-acetyl-alpha-D-galactosamine + N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein = UDP + N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein.1 Publication

    Kineticsi

    1. KM=5.4 µM for UDP-GalNAc1 Publication
    2. KM=11 mM for GlcNAc-beta-Bn1 Publication

    Pathwayi

    GO - Molecular functioni

    1. acetylgalactosaminyltransferase activity Source: UniProtKB
    2. acetylglucosaminyltransferase activity Source: UniProtKB
    3. galactosyltransferase activity Source: InterPro

    GO - Biological processi

    1. protein glycosylation Source: UniProtKB
    2. protein O-linked glycosylation Source: UniProtKB

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    SABIO-RKQ8NCR0.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT31. Glycosyltransferase Family 31.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2 (EC:2.4.1.-)
    Short name:
    Beta-1,3-GalNAc-T2
    Alternative name(s):
    Beta-1,3-N-acetylgalactosaminyltransferase II
    Gene namesi
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:28596. B3GALNT2.

    Subcellular locationi

    Golgi apparatus membrane By similarity; Single-pass type II membrane protein By similarity. Endoplasmic reticulum 1 Publication

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]: 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 varianti247 – 2471G → E in MDDGA11; affects subcellular localization. 1 Publication
    VAR_069638
    Natural varianti252 – 2521V → G in MDDGA11. 1 Publication
    VAR_069639
    Natural varianti268 – 2681V → M in MDDGA11; affects subcellular localization. 1 Publication
    VAR_069640
    Natural varianti292 – 2921R → P in MDDGA11; does not affect subcellular localization. 1 Publication
    VAR_069641

    Keywords - Diseasei

    Congenital muscular dystrophy, Disease mutation, Dystroglycanopathy, Lissencephaly

    Organism-specific databases

    MIMi615181. phenotype.
    Orphaneti588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBiPA142672567.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 500500UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2PRO_0000248362Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi116 – 1161N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi174 – 1741N-linked (GlcNAc...)Sequence Analysis

    Post-translational modificationi

    N-glycosylated.1 Publication

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ8NCR0.
    PaxDbiQ8NCR0.
    PRIDEiQ8NCR0.

    PTM databases

    PhosphoSiteiQ8NCR0.

    Expressioni

    Tissue specificityi

    Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal muscle and ovary.1 Publication

    Gene expression databases

    BgeeiQ8NCR0.
    CleanExiHS_B3GALNT2.
    GenevestigatoriQ8NCR0.

    Organism-specific databases

    HPAiHPA012502.

    Interactioni

    Protein-protein interaction databases

    BioGridi127169. 3 interactions.
    STRINGi9606.ENSP00000355559.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8NCR0.
    SMRiQ8NCR0. Positions 51-77.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini24 – 500477LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2317Helical; 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

    eggNOGiNOG274138.
    HOGENOMiHOG000293391.
    HOVERGENiHBG080884.
    KOiK09654.
    OMAiFYRWTVE.
    OrthoDBiEOG7PK8Z9.
    PhylomeDBiQ8NCR0.
    TreeFamiTF314311.

    Family and domain databases

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

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8NCR0-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MRNWLVLLCP CVLGAALHLW LRLRSPPPAC ASGAGPADQL ALFPQWKSTH    50
    YDVVVGVLSA RNNHELRNVI RSTWMRHLLQ HPTLSQRVLV KFIIGAHGCE 100
    VPVEDREDPY SCKLLNITNP VLNQEIEAFS LSEDTSSGLP EDRVVSVSFR 150
    VLYPIVITSL GVFYDANDVG FQRNITVKLY QAEQEEALFI ARFSPPSCGV 200
    QVNKLWYKPV EQFILPESFE GTIVWESQDL HGLVSRNLHK VTVNDGGGVL 250
    RVITAGEGAL PHEFLEGVEG VAGGFIYTIQ EGDALLHNLH SRPQRLIDHI 300
    RNLHEEDALL KEESSIYDDI VFVDVVDTYR NVPAKLLNFY RWTVETTSFN 350
    LLLKTDDDCY IDLEAVFNRI VQKNLDGPNF WWGNFRLNWA VDRTGKWQEL 400
    EYPSPAYPAF ACGSGYVISK DIVKWLASNS GRLKTYQGED VSMGIWMAAI 450
    GPKRYQDSLW LCEKTCETGM LSSPQYSPWE LTELWKLKER CGDPCRCQAR 500
    Length:500
    Mass (Da):56,704
    Last modified:October 1, 2002 - v1
    Checksum:iF346C95857886026
    GO
    Isoform 2 (identifier: Q8NCR0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         37-37: A → AGGVSLLLPRLECNGAVSAHPNLHLPGSRDSPASASQVAGIT
         281-285: EGDAL → GKFAS
         286-500: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:326
    Mass (Da):35,649
    Checksum:iDF1129745F801D9D
    GO

    Sequence cautioni

    The sequence AAH16974.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti203 – 2031N → S in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035860
    Natural varianti247 – 2471G → E in MDDGA11; affects subcellular localization. 1 Publication
    VAR_069638
    Natural varianti252 – 2521V → G in MDDGA11. 1 Publication
    VAR_069639
    Natural varianti268 – 2681V → M in MDDGA11; affects subcellular localization. 1 Publication
    VAR_069640
    Natural varianti292 – 2921R → P in MDDGA11; does not affect subcellular localization. 1 Publication
    VAR_069641

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei37 – 371A → AGGVSLLLPRLECNGAVSAH PNLHLPGSRDSPASASQVAG IT in isoform 2. 1 PublicationVSP_020250
    Alternative sequencei281 – 2855EGDAL → GKFAS in isoform 2. 1 PublicationVSP_020251
    Alternative sequencei286 – 500215Missing in isoform 2. 1 PublicationVSP_020252Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL135928 Genomic DNA. Translation: CAI21727.1.
    AL135928 Genomic DNA. Translation: CAI21728.1.
    BC016974 mRNA. Translation: AAH16974.1. Different initiation.
    BC029564 mRNA. Translation: AAH29564.1.
    AB209046 mRNA. Translation: BAD92283.1.
    CCDSiCCDS1606.1. [Q8NCR0-1]
    CCDS60453.1. [Q8NCR0-2]
    RefSeqiNP_001264084.1. NM_001277155.2. [Q8NCR0-2]
    NP_689703.1. NM_152490.4. [Q8NCR0-1]
    UniGeneiHs.498143.

    Genome annotation databases

    EnsembliENST00000313984; ENSP00000315678; ENSG00000162885. [Q8NCR0-2]
    ENST00000366600; ENSP00000355559; ENSG00000162885. [Q8NCR0-1]
    GeneIDi148789.
    KEGGihsa:148789.
    UCSCiuc001hxc.3. human. [Q8NCR0-1]
    uc001hxd.2. human. [Q8NCR0-2]

    Polymorphism databases

    DMDMi74751196.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AL135928 Genomic DNA. Translation: CAI21727.1 .
    AL135928 Genomic DNA. Translation: CAI21728.1 .
    BC016974 mRNA. Translation: AAH16974.1 . Different initiation.
    BC029564 mRNA. Translation: AAH29564.1 .
    AB209046 mRNA. Translation: BAD92283.1 .
    CCDSi CCDS1606.1. [Q8NCR0-1 ]
    CCDS60453.1. [Q8NCR0-2 ]
    RefSeqi NP_001264084.1. NM_001277155.2. [Q8NCR0-2 ]
    NP_689703.1. NM_152490.4. [Q8NCR0-1 ]
    UniGenei Hs.498143.

    3D structure databases

    ProteinModelPortali Q8NCR0.
    SMRi Q8NCR0. Positions 51-77.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127169. 3 interactions.
    STRINGi 9606.ENSP00000355559.

    Protein family/group databases

    CAZyi GT31. Glycosyltransferase Family 31.

    PTM databases

    PhosphoSitei Q8NCR0.

    Polymorphism databases

    DMDMi 74751196.

    Proteomic databases

    MaxQBi Q8NCR0.
    PaxDbi Q8NCR0.
    PRIDEi Q8NCR0.

    Protocols and materials databases

    DNASUi 148789.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000313984 ; ENSP00000315678 ; ENSG00000162885 . [Q8NCR0-2 ]
    ENST00000366600 ; ENSP00000355559 ; ENSG00000162885 . [Q8NCR0-1 ]
    GeneIDi 148789.
    KEGGi hsa:148789.
    UCSCi uc001hxc.3. human. [Q8NCR0-1 ]
    uc001hxd.2. human. [Q8NCR0-2 ]

    Organism-specific databases

    CTDi 148789.
    GeneCardsi GC01M235613.
    HGNCi HGNC:28596. B3GALNT2.
    HPAi HPA012502.
    MIMi 610194. gene.
    615181. phenotype.
    neXtProti NX_Q8NCR0.
    Orphaneti 588. Muscle-eye-brain disease.
    899. Walker-Warburg syndrome.
    PharmGKBi PA142672567.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG274138.
    HOGENOMi HOG000293391.
    HOVERGENi HBG080884.
    KOi K09654.
    OMAi FYRWTVE.
    OrthoDBi EOG7PK8Z9.
    PhylomeDBi Q8NCR0.
    TreeFami TF314311.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    SABIO-RK Q8NCR0.

    Miscellaneous databases

    GenomeRNAii 148789.
    NextBioi 86001.
    PROi Q8NCR0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8NCR0.
    CleanExi HS_B3GALNT2.
    Genevestigatori Q8NCR0.

    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. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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] (ISOFORMS 1 AND 2).
      Tissue: Mammary gland and Testis.
    3. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 74-500 (ISOFORM 1).
      Tissue: Brain.
    4. "A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc."
      Hiruma T., Togayachi A., Okamura K., Sato T., Kikuchi N., Kwon Y.D., Nakamura A., Fujimura K., Gotoh M., Tachibana K., Ishizuka Y., Noce T., Nakanishi H., Narimatsu H.
      J. Biol. Chem. 279:14087-14095(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, GLYCOSYLATION, TISSUE SPECIFICITY.
    5. Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MDDGA11 GLU-247; GLY-252; MET-268 AND PRO-292, CHARACTERIZATION OF VARIANTS MDDGA11 GLU-247; MET-268 AND PRO-292.
    6. "SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function."
      Yoshida-Moriguchi T., Willer T., Anderson M.E., Venzke D., Whyte T., Muntoni F., Lee H., Nelson S.F., Yu L., Campbell K.P.
      Science 341:896-899(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY.
    7. Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-203.

    Entry informationi

    Entry nameiB3GL2_HUMAN
    AccessioniPrimary (citable) accession number: Q8NCR0
    Secondary accession number(s): Q59GR3, Q5TCI3, Q96AL7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 5, 2006
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 97 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 1
      Human chromosome 1: 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