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)

Q6Y288

- B3GLT_HUMAN

UniProt

Q6Y288 - B3GLT_HUMAN

Protein

Beta-1,3-glucosyltransferase

Gene

B3GALTL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 88 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    O-fucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan.1 Publication

    Pathwayi

    GO - Molecular functioni

    1. transferase activity, transferring glycosyl groups Source: UniProtKB-KW

    GO - Biological processi

    1. fucose metabolic process Source: UniProtKB-KW
    2. protein glycosylation Source: UniProtKB-UniPathway

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Keywords - Biological processi

    Carbohydrate metabolism, Fucose metabolism

    Enzyme and pathway databases

    ReactomeiREACT_200626. O-glycosylation of TSR domain-containing proteins.
    UniPathwayiUPA00378.

    Protein family/group databases

    CAZyiGT31. Glycosyltransferase Family 31.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Beta-1,3-glucosyltransferase (EC:2.4.1.-)
    Short name:
    Beta3Glc-T
    Alternative name(s):
    Beta-3-glycosyltransferase-like
    Gene namesi
    Name:B3GALTL
    Synonyms:B3GTL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 13

    Organism-specific databases

    HGNCiHGNC:20207. B3GALTL.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 PublicationPROSITE-ProRule annotation; Single-pass type II membrane protein 1 Publication

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Endoplasmic reticulum, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Peters-plus syndrome (PpS) [MIM:261540]: Autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi495 – 4984Missing: Abolishes endoplasmic reticulum localization. 1 Publication

    Keywords - Diseasei

    Congenital disorder of glycosylation

    Organism-specific databases

    MIMi261540. phenotype.
    Orphaneti709. Peters-plus syndrome.
    PharmGKBiPA144596515.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 498498Beta-1,3-glucosyltransferasePRO_0000252399Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi336 – 3361N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ6Y288.
    PaxDbiQ6Y288.
    PRIDEiQ6Y288.

    PTM databases

    PhosphoSiteiQ6Y288.

    Expressioni

    Tissue specificityi

    Widely expressed, with highest levels in testis and uterus.2 Publications

    Gene expression databases

    BgeeiQ6Y288.
    CleanExiHS_B3GALTL.
    GenevestigatoriQ6Y288.

    Organism-specific databases

    HPAiHPA017664.

    Interactioni

    Protein-protein interaction databases

    BioGridi126890. 2 interactions.
    STRINGi9606.ENSP00000343002.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6Y288.
    SMRiQ6Y288. Positions 268-442.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini28 – 498471LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2721Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi495 – 4984Prevents secretion from ER

    Sequence similaritiesi

    Belongs to the glycosyltransferase 31 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG150034.
    HOGENOMiHOG000007375.
    HOVERGENiHBG059386.
    InParanoidiQ6Y288.
    KOiK13675.
    OMAiTGGYSYV.
    OrthoDBiEOG75XGMG.
    PhylomeDBiQ6Y288.
    TreeFamiTF313496.

    Family and domain databases

    InterProiIPR003378. Fringe-like.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PfamiPF02434. Fringe. 2 hits.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.
    PROSITEiPS00014. ER_TARGET. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q6Y288-1 [UniParc]FASTAAdd to Basket

    « Hide

    MRPPACWWLL APPALLALLT CSLAFGLASE DTKKEVKQSQ DLEKSGISRK    50
    NDIDLKGIVF VIQSQSNSFH AKRAEQLKKS ILKQAADLTQ ELPSVLLLHQ 100
    LAKQEGAWTI LPLLPHFSVT YSRNSSWIFF CEEETRIQIP KLLETLRRYD 150
    PSKEWFLGKA LHDEEATIIH HYAFSENPTV FKYPDFAAGW ALSIPLVNKL 200
    TKRLKSESLK SDFTIDLKHE IALYIWDKGG GPPLTPVPEF CTNDVDFYCA 250
    TTFHSFLPLC RKPVKKKDIF VAVKTCKKFH GDRIPIVKQT WESQASLIEY 300
    YSDYTENSIP TVDLGIPNTD RGHCGKTFAI LERFLNRSQD KTAWLVIVDD 350
    DTLISISRLQ HLLSCYDSGE PVFLGERYGY GLGTGGYSYI TGGGGMVFSR 400
    EAVRRLLASK CRCYSNDAPD DMVLGMCFSG LGIPVTHSPL FHQARPVDYP 450
    KDYLSHQVPI SFHKHWNIDP VKVYFTWLAP SDEDKARQET QKGFREEL 498
    Length:498
    Mass (Da):56,564
    Last modified:October 17, 2006 - v2
    Checksum:iCDC6A479A1564D48
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti284 – 2841I → M in AAH68595. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti370 – 3701E → K.4 Publications
    Corresponds to variant rs1041073 [ dbSNP | Ensembl ].
    VAR_027849

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY190526 mRNA. Translation: AAO37647.1.
    AB101481 mRNA. Translation: BAD13528.1.
    AK291273 mRNA. Translation: BAF83962.1.
    AL137142, AL138965 Genomic DNA. Translation: CAI12432.2.
    AL138965, AL137142 Genomic DNA. Translation: CAH73049.2.
    CH471075 Genomic DNA. Translation: EAX08483.1.
    BC068595 mRNA. Translation: AAH68595.1.
    CCDSiCCDS9341.1.
    RefSeqiNP_919299.3. NM_194318.3.
    UniGeneiHs.13205.

    Genome annotation databases

    EnsembliENST00000343307; ENSP00000343002; ENSG00000187676.
    GeneIDi145173.
    KEGGihsa:145173.
    UCSCiuc010aaz.3. human.

    Polymorphism databases

    DMDMi116243011.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY190526 mRNA. Translation: AAO37647.1 .
    AB101481 mRNA. Translation: BAD13528.1 .
    AK291273 mRNA. Translation: BAF83962.1 .
    AL137142 , AL138965 Genomic DNA. Translation: CAI12432.2 .
    AL138965 , AL137142 Genomic DNA. Translation: CAH73049.2 .
    CH471075 Genomic DNA. Translation: EAX08483.1 .
    BC068595 mRNA. Translation: AAH68595.1 .
    CCDSi CCDS9341.1.
    RefSeqi NP_919299.3. NM_194318.3.
    UniGenei Hs.13205.

    3D structure databases

    ProteinModelPortali Q6Y288.
    SMRi Q6Y288. Positions 268-442.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 126890. 2 interactions.
    STRINGi 9606.ENSP00000343002.

    Protein family/group databases

    CAZyi GT31. Glycosyltransferase Family 31.

    PTM databases

    PhosphoSitei Q6Y288.

    Polymorphism databases

    DMDMi 116243011.

    Proteomic databases

    MaxQBi Q6Y288.
    PaxDbi Q6Y288.
    PRIDEi Q6Y288.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000343307 ; ENSP00000343002 ; ENSG00000187676 .
    GeneIDi 145173.
    KEGGi hsa:145173.
    UCSCi uc010aaz.3. human.

    Organism-specific databases

    CTDi 145173.
    GeneCardsi GC13P031774.
    GeneReviewsi B3GALTL.
    H-InvDB HIX0011217.
    HGNCi HGNC:20207. B3GALTL.
    HPAi HPA017664.
    MIMi 261540. phenotype.
    610308. gene.
    neXtProti NX_Q6Y288.
    Orphaneti 709. Peters-plus syndrome.
    PharmGKBi PA144596515.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG150034.
    HOGENOMi HOG000007375.
    HOVERGENi HBG059386.
    InParanoidi Q6Y288.
    KOi K13675.
    OMAi TGGYSYV.
    OrthoDBi EOG75XGMG.
    PhylomeDBi Q6Y288.
    TreeFami TF313496.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_200626. O-glycosylation of TSR domain-containing proteins.

    Miscellaneous databases

    GeneWikii B3GALTL.
    GenomeRNAii 145173.
    NextBioi 85032.
    PROi Q6Y288.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6Y288.
    CleanExi HS_B3GALTL.
    Genevestigatori Q6Y288.

    Family and domain databases

    InterProi IPR003378. Fringe-like.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    Pfami PF02434. Fringe. 2 hits.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    PROSITEi PS00014. ER_TARGET. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "A novel human glycosyltransferase: primary structure and characterization of the gene and transcripts."
      Heinonen T.Y.K., Pasternack L., Lindfors K., Breton C., Gastinel L.N., Maeki M., Kainulainen H.
      Biochem. Biophys. Res. Commun. 309:166-174(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, VARIANT LYS-370.
    2. "Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain."
      Sato T., Sato M., Kiyohara K., Sogabe M., Shikanai T., Kikuchi N., Togayachi A., Ishida H., Ito H., Kameyama A., Gotoh M., Narimatsu H.
      Glycobiology 16:1194-1206(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, ENZYME ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF 495-ARG--LEU-498, VARIANT LYS-370.
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LYS-370.
    4. "The DNA sequence and analysis of human chromosome 13."
      Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
      Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT LYS-370.
    6. "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: Testis.
    7. "Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase."
      Lesnik Oberstein S.A., Kriek M., White S.J., Kalf M.E., Szuhai K., den Dunnen J.T., Breuning M.H., Hennekam R.C.M.
      Am. J. Hum. Genet. 79:562-566(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN PPS.

    Entry informationi

    Entry nameiB3GLT_HUMAN
    AccessioniPrimary (citable) accession number: Q6Y288
    Secondary accession number(s): A8K5F8, Q5W0H2, Q6NUI3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 17, 2006
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 88 of the entry and version 2 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 13
      Human chromosome 13: 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