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Q9V730

- EXT1_DROME

UniProt

Q9V730 - EXT1_DROME

Protein

Exostosin-1

Gene

ttv

Organism
Drosophila melanogaster (Fruit fly)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 97 (01 Oct 2014)
      Sequence version 1 (01 May 2000)
      Previous versions | rss
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    Functioni

    Glycosyltransferase required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains. Botv is the trigger of heparan sulfate chain initiation and polymerization takes place by a complex of ttv and sotv. Plays a central role in the diffusion of morphogens hedgehog (hh), wingless (wg) and decapentaplegic (dpp) via its role in heparan sulfate proteoglycans (HSPGs) biosynthesis which are required for movement of hh, dpp and wg morphogens.9 Publications

    Catalytic activityi

    UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan.
    UDP-alpha-D-glucuronate + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.

    Pathwayi

    GO - Molecular functioni

    1. acetylglucosaminyltransferase activity Source: FlyBase
    2. glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Source: UniProtKB
    3. glucuronosyltransferase activity Source: FlyBase
    4. N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity Source: UniProtKB
    5. protein binding Source: UniProtKB

    GO - Biological processi

    1. axon guidance Source: FlyBase
    2. decapentaplegic signaling pathway Source: UniProtKB
    3. germ cell migration Source: FlyBase
    4. glycosaminoglycan biosynthetic process Source: UniProtKB
    5. heparan sulfate proteoglycan biosynthetic process Source: UniProtKB
    6. heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: FlyBase
    7. heparin biosynthetic process Source: FlyBase
    8. intracellular distribution of mitochondria Source: FlyBase
    9. N-acetylglucosamine metabolic process Source: UniProtKB
    10. protein glycosylation Source: UniProtKB-UniPathway
    11. regulation of smoothened signaling pathway Source: UniProtKB
    12. smoothened signaling pathway Source: UniProtKB
    13. synapse organization Source: FlyBase
    14. synaptic vesicle endocytosis Source: FlyBase
    15. Wnt signaling pathway Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein, Glycosyltransferase, Transferase

    Keywords - Biological processi

    Wnt signaling pathway

    Enzyme and pathway databases

    ReactomeiREACT_180263. HS-GAG biosynthesis.
    SignaLinkiQ9V730.
    UniPathwayiUPA00378.
    UPA00756.
    UPA00862.

    Protein family/group databases

    CAZyiGT47. Glycosyltransferase Family 47.
    GT64. Glycosyltransferase Family 64.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Exostosin-1 (EC:2.4.1.224, EC:2.4.1.225)
    Alternative name(s):
    Protein tout-velu
    Gene namesi
    Name:ttv
    Synonyms:DEXT1
    ORF Names:CG10117
    OrganismiDrosophila melanogaster (Fruit fly)
    Taxonomic identifieri7227 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaEcdysozoaArthropodaHexapodaInsectaPterygotaNeopteraEndopterygotaDipteraBrachyceraMuscomorphaEphydroideaDrosophilidaeDrosophilaSophophora
    ProteomesiUP000000803: Chromosome 2R

    Organism-specific databases

    FlyBaseiFBgn0265974. ttv.

    Subcellular locationi

    GO - Cellular componenti

    1. endoplasmic reticulum Source: UniProtKB
    2. Golgi apparatus Source: UniProtKB
    3. Golgi membrane Source: UniProtKB-SubCell
    4. integral component of membrane Source: UniProtKB
    5. intrinsic component of endoplasmic reticulum membrane Source: InterPro

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Disruption phenotypei

    According to some authors (PubMed:10549295) ttv mutants have no effect on wg signaling, while according to others (PubMed:14645127, PubMed:14729575 and PubMed:15056609) wg signaling is affected. Such discrepancy may be explained by the fact that the absence of ttv could be partially compensated by the intact sotv protein.4 Publications

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi447 – 4471G → D in ttv205; induces defects in wing patterning due to impaired movement of morphogens. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 760760Exostosin-1PRO_0000149664Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi71 – 711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi327 – 3271N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi476 – 4761N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9V730.
    PRIDEiQ9V730.

    Expressioni

    Tissue specificityi

    Ubiquitously expressed in early embryos. Later (in stage 10 embryos), it is expressed at higher level in the nervous system. Ubiquitously expressed in wing imaginal disk.2 Publications

    Developmental stagei

    Expressed both maternally and zygotically.1 Publication

    Gene expression databases

    BgeeiQ9V730.

    Interactioni

    Subunit structurei

    Forms a homo/heterooligomeric complex with sotv. May interact with rti.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Ext2Q9Y1693EBI-166374,EBI-142791

    Protein-protein interaction databases

    BioGridi62362. 2 interactions.
    IntActiQ9V730. 4 interactions.
    MINTiMINT-7953341.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9V730.
    SMRiQ9V730. Positions 562-734.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 66CytoplasmicSequence Analysis
    Topological domaini26 – 760735LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei7 – 2519Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the glycosyltransferase 47 family.Curated

    Keywords - Domaini

    Signal-anchor, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG272619.
    GeneTreeiENSGT00550000074496.
    InParanoidiQ5BI21.
    KOiK02366.
    OMAiWEAYFNS.
    PhylomeDBiQ9V730.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR004263. Exostosin.
    IPR015338. HexNAc_Trfase_a.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR11062. PTHR11062. 1 hit.
    PfamiPF03016. Exostosin. 1 hit.
    PF09258. Glyco_transf_64. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9V730-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQAKKRYILV FVSCAFLAYA YFGGYRLKVS PLRPRRAQHE SAKDGGVQPH    50
    EQLPSFLGAH DMQELQLLQS NQSKSLDSSK HLVTRKPDCR METCFDFTRC 100
    YDRFLVYIYP PEPLNSLGAA PPTSANYQKI LTAIQESRYY TSDPTAACLF 150
    VLGIDTLDRD SLSEDYVRNV PSRLARLPYW NNGRNHIIFN LYSGTWPDYA 200
    ENSLGFDAGE AILAKASMGV LQLRHGFDVS IPLFHKQFPL RAGATGTVQS 250
    NNFPANKKYL LAFKGKRYVH GIGSETRNSL FHLHNGRDMV LVTTCRHGKS 300
    WRELQDNRCD EDNREYDRYD YETLLQNSTF CLVPRGRRLG SFRFLEALQA 350
    GCIPVLLSNA WVLPFESKID WKQAAIWADE RLLLQVPDIV RSIPAERIFA 400
    LRQQTQVLWE RYFGSIEKIV FTTFEIIRER LPDYPVRSSL VWNSSPGALL 450
    TLPTFADSSR YMPFLLNSMG AEPRHNYTAV IYVQIGAALG PNAALYKLVR 500
    TITKSQFVER ILVLWAADRP LPLKKRWPPT SHIPLHVISL GGSTRSQGAG 550
    PTSQTTEGRP SISQRFLPYD EIQTDAVLSL DEDAILNTDE LDFAYTVWRD 600
    FPERIVGYPA RAHFWDDSKN AWGYTSKWTN YYSIVLTGAA FYHRYYNYLY 650
    TNWLSLLLLK TVQQSSNCED ILMNLLVSHV TRKPPIKVTQ RKGYKDRETG 700
    RSPWNDPDHF IQRQSCLNTF AAVFGYMPLI RSNLRMDPML YRDPVSNLRK 750
    KYRQIELVGS 760
    Length:760
    Mass (Da):87,309
    Last modified:May 1, 2000 - v1
    Checksum:iF6369F0BA206DEA9
    GO

    Sequence cautioni

    The sequence AAC32397.1 differs from that shown. Reason: Frameshift at positions 694 and 702.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF083889 mRNA. Translation: AAC32397.1. Frameshift.
    AB221351 mRNA. Translation: BAE78509.1.
    AE013599 Genomic DNA. Translation: AAF58236.1.
    BT021403 mRNA. Translation: AAX33551.1.
    RefSeqiNP_001260971.1. NM_001274042.1.
    NP_477231.1. NM_057883.3.
    UniGeneiDm.2966.

    Genome annotation databases

    EnsemblMetazoaiFBtr0087495; FBpp0086624; FBgn0020245.
    FBtr0333164; FBpp0305367; FBgn0020245.
    GeneIDi36614.
    KEGGidme:Dmel_CG10117.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF083889 mRNA. Translation: AAC32397.1 . Frameshift.
    AB221351 mRNA. Translation: BAE78509.1 .
    AE013599 Genomic DNA. Translation: AAF58236.1 .
    BT021403 mRNA. Translation: AAX33551.1 .
    RefSeqi NP_001260971.1. NM_001274042.1.
    NP_477231.1. NM_057883.3.
    UniGenei Dm.2966.

    3D structure databases

    ProteinModelPortali Q9V730.
    SMRi Q9V730. Positions 562-734.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 62362. 2 interactions.
    IntActi Q9V730. 4 interactions.
    MINTi MINT-7953341.

    Protein family/group databases

    CAZyi GT47. Glycosyltransferase Family 47.
    GT64. Glycosyltransferase Family 64.

    Proteomic databases

    PaxDbi Q9V730.
    PRIDEi Q9V730.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    EnsemblMetazoai FBtr0087495 ; FBpp0086624 ; FBgn0020245 .
    FBtr0333164 ; FBpp0305367 ; FBgn0020245 .
    GeneIDi 36614.
    KEGGi dme:Dmel_CG10117.

    Organism-specific databases

    CTDi 36614.
    FlyBasei FBgn0265974. ttv.

    Phylogenomic databases

    eggNOGi NOG272619.
    GeneTreei ENSGT00550000074496.
    InParanoidi Q5BI21.
    KOi K02366.
    OMAi WEAYFNS.
    PhylomeDBi Q9V730.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    UPA00756 .
    UPA00862 .
    Reactomei REACT_180263. HS-GAG biosynthesis.
    SignaLinki Q9V730.

    Miscellaneous databases

    ChiTaRSi EXT1. drosophila.
    GenomeRNAii 36614.
    NextBioi 799500.
    PROi Q9V730.

    Gene expression databases

    Bgeei Q9V730.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR004263. Exostosin.
    IPR015338. HexNAc_Trfase_a.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR11062. PTHR11062. 1 hit.
    Pfami PF03016. Exostosin. 1 hit.
    PF09258. Glyco_transf_64. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion."
      Bellaiche Y., The I., Perrimon N.
      Nature 394:85-88(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, MEMBRANE TOPOLOGY, DEVELOPMENTAL STAGE.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, INTERACTION WITH SOTV.
    3. "The genome sequence of Drosophila melanogaster."
      Adams M.D., Celniker S.E., Holt R.A., Evans C.A., Gocayne J.D., Amanatides P.G., Scherer S.E., Li P.W., Hoskins R.A., Galle R.F., George R.A., Lewis S.E., Richards S., Ashburner M., Henderson S.N., Sutton G.G., Wortman J.R., Yandell M.D.
      , Zhang Q., Chen L.X., Brandon R.C., Rogers Y.-H.C., Blazej R.G., Champe M., Pfeiffer B.D., Wan K.H., Doyle C., Baxter E.G., Helt G., Nelson C.R., Miklos G.L.G., Abril J.F., Agbayani A., An H.-J., Andrews-Pfannkoch C., Baldwin D., Ballew R.M., Basu A., Baxendale J., Bayraktaroglu L., Beasley E.M., Beeson K.Y., Benos P.V., Berman B.P., Bhandari D., Bolshakov S., Borkova D., Botchan M.R., Bouck J., Brokstein P., Brottier P., Burtis K.C., Busam D.A., Butler H., Cadieu E., Center A., Chandra I., Cherry J.M., Cawley S., Dahlke C., Davenport L.B., Davies P., de Pablos B., Delcher A., Deng Z., Mays A.D., Dew I., Dietz S.M., Dodson K., Doup L.E., Downes M., Dugan-Rocha S., Dunkov B.C., Dunn P., Durbin K.J., Evangelista C.C., Ferraz C., Ferriera S., Fleischmann W., Fosler C., Gabrielian A.E., Garg N.S., Gelbart W.M., Glasser K., Glodek A., Gong F., Gorrell J.H., Gu Z., Guan P., Harris M., Harris N.L., Harvey D.A., Heiman T.J., Hernandez J.R., Houck J., Hostin D., Houston K.A., Howland T.J., Wei M.-H., Ibegwam C., Jalali M., Kalush F., Karpen G.H., Ke Z., Kennison J.A., Ketchum K.A., Kimmel B.E., Kodira C.D., Kraft C.L., Kravitz S., Kulp D., Lai Z., Lasko P., Lei Y., Levitsky A.A., Li J.H., Li Z., Liang Y., Lin X., Liu X., Mattei B., McIntosh T.C., McLeod M.P., McPherson D., Merkulov G., Milshina N.V., Mobarry C., Morris J., Moshrefi A., Mount S.M., Moy M., Murphy B., Murphy L., Muzny D.M., Nelson D.L., Nelson D.R., Nelson K.A., Nixon K., Nusskern D.R., Pacleb J.M., Palazzolo M., Pittman G.S., Pan S., Pollard J., Puri V., Reese M.G., Reinert K., Remington K., Saunders R.D.C., Scheeler F., Shen H., Shue B.C., Siden-Kiamos I., Simpson M., Skupski M.P., Smith T.J., Spier E., Spradling A.C., Stapleton M., Strong R., Sun E., Svirskas R., Tector C., Turner R., Venter E., Wang A.H., Wang X., Wang Z.-Y., Wassarman D.A., Weinstock G.M., Weissenbach J., Williams S.M., Woodage T., Worley K.C., Wu D., Yang S., Yao Q.A., Ye J., Yeh R.-F., Zaveri J.S., Zhan M., Zhang G., Zhao Q., Zheng L., Zheng X.H., Zhong F.N., Zhong W., Zhou X., Zhu S.C., Zhu X., Smith H.O., Gibbs R.A., Myers E.W., Rubin G.M., Venter J.C.
      Science 287:2185-2195(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: Berkeley.
    4. Cited for: GENOME REANNOTATION.
      Strain: Berkeley.
    5. Stapleton M., Carlson J.W., Chavez C., Frise E., George R.A., Pacleb J.M., Park S., Wan K.H., Yu C., Rubin G.M., Celniker S.E.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Strain: Berkeley.
      Tissue: Embryo.
    6. "Hedgehog movement is regulated through tout velu-dependent synthesis of a heparan sulfate proteoglycan."
      The I., Bellaiche Y., Perrimon N.
      Mol. Cell 4:633-639(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN HH PATHWAY, ENZYME ACTIVITY, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE.
    7. "Structural analysis of glycosaminoglycans in Drosophila and Caenorhabditis elegans and demonstration that tout-velu, a Drosophila gene related to EXT tumor suppressors, affects heparan sulfate in vivo."
      Toyoda H., Kinoshita-Toyoda A., Selleck S.B.
      J. Biol. Chem. 275:2269-2275(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: ENZYME ACTIVITY.
    8. "Structural analysis of glycosaminoglycans in animals bearing mutations in sugarless, sulfateless, and tout-velu. Drosophila homologues of vertebrate genes encoding glycosaminoglycan biosynthetic enzymes."
      Toyoda H., Kinoshita-Toyoda A., Fox B., Selleck S.B.
      J. Biol. Chem. 275:21856-21861(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN HH PATHWAY.
    9. "Cholesterol modification of hedgehog is required for trafficking and movement, revealing an asymmetric cellular response to hedgehog."
      Gallet A., Rodriguez R., Ruel L., Therond P.P.
      Dev. Cell 4:191-204(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN HH PATHWAY.
    10. "Three Drosophila EXT genes shape morphogen gradients through synthesis of heparan sulfate proteoglycans."
      Takei Y., Ozawa Y., Sato M., Watanabe A., Tabata T.
      Development 131:73-82(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, TISSUE SPECIFICITY, DISRUPTION PHENOTYPE, MUTAGENESIS OF GLY-447.
    11. "Drosophila glypicans control the cell-to-cell movement of Hedgehog by a dynamin-independent process."
      Han C., Belenkaya T.Y., Wang B., Lin X.
      Development 131:601-611(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN HH PATHWAY, DISRUPTION PHENOTYPE.
    12. "Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation."
      Han C., Belenkaya T.Y., Khodoun M., Tauchi M., Lin X., Lin X.
      Development 131:1563-1575(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    13. "Abrogation of heparan sulfate synthesis in Drosophila disrupts the Wingless, Hedgehog and Decapentaplegic signaling pathways."
      Bornemann D.J., Duncan J.E., Staatz W., Selleck S., Warrior R.
      Development 131:1927-1938(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DISRUPTION PHENOTYPE.
    14. "The Drosophila GOLPH3 homolog regulates the biosynthesis of heparan sulfate proteoglycans by modulating the retrograde trafficking of exostosins."
      Chang W.L., Chang C.W., Chang Y.Y., Sung H.H., Lin M.D., Chang S.C., Chen C.H., Huang C.W., Tung K.S., Chou T.B.
      Development 140:2798-2807(2013) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH RTI, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiEXT1_DROME
    AccessioniPrimary (citable) accession number: Q9V730
    Secondary accession number(s): O76796, Q5BI21
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 15, 2005
    Last sequence update: May 1, 2000
    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 programDrosophila annotation project

    Miscellaneousi

    Miscellaneous

    'Tout velu' means 'very hairy' in French.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Drosophila
      Drosophila: entries, gene names and cross-references to FlyBase
    2. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3