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P97464

- EXT1_MOUSE

UniProt

P97464 - EXT1_MOUSE

Protein

Exostosin-1

Gene

Ext1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 125 (01 Oct 2014)
      Sequence version 1 (01 May 1997)
      Previous versions | rss
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    Functioni

    Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone.

    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. glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Source: UniProtKB
    2. N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity Source: UniProtKB

    GO - Biological processi

    1. axon guidance Source: MGI
    2. brain development Source: MGI
    3. embryonic skeletal joint development Source: MGI
    4. endoderm development Source: MGI
    5. gastrulation Source: MGI
    6. glycosaminoglycan biosynthetic process Source: Ensembl
    7. heparan sulfate proteoglycan biosynthetic process Source: UniProtKB
    8. heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: Ensembl
    9. mesoderm development Source: MGI
    10. olfactory bulb development Source: MGI
    11. ossification Source: Ensembl
    12. protein glycosylation Source: UniProtKB-UniPathway

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    ReactomeiREACT_198654. HS-GAG biosynthesis.
    UniPathwayiUPA00378.

    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):
    Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    Multiple exostoses protein 1 homolog
    Gene namesi
    Name:Ext1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 15

    Organism-specific databases

    MGIiMGI:894663. Ext1.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 746746Exostosin-1PRO_0000149649Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi89 – 891N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi330 – 3301N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PRIDEiP97464.

    PTM databases

    PhosphoSiteiP97464.

    Expressioni

    Tissue specificityi

    Expressed in maturing chondrocytes.

    Developmental stagei

    Initially expressed at 6.5 dpc, which coincides with gastrulation of the embryo. High level of expression in developing limb buds at 10.5 to 12.5 dpc.1 Publication

    Gene expression databases

    ArrayExpressiP97464.
    BgeeiP97464.
    CleanExiMM_EXT1.
    GenevestigatoriP97464.

    Interactioni

    Subunit structurei

    Forms a homo/hetero-oligomeric complex with EXT2.

    Structurei

    3D structure databases

    ProteinModelPortaliP97464.
    SMRiP97464. Positions 512-724.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 77CytoplasmicSequence Analysis
    Topological domaini29 – 746718LumenalSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei8 – 2821Helical; 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.
    HOGENOMiHOG000266990.
    HOVERGENiHBG003459.
    InParanoidiP97464.
    KOiK02366.
    OMAiVTTCKHG.
    OrthoDBiEOG7RBZ7Z.
    PhylomeDBiP97464.
    TreeFamiTF314231.

    Family and domain databases

    Gene3Di3.90.550.10. 1 hit.
    InterProiIPR004263. Exostosin.
    IPR027670. Exostosin-1.
    IPR015338. HexNAc_Trfase_a.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view]
    PANTHERiPTHR11062. PTHR11062. 1 hit.
    PTHR11062:SF45. PTHR11062:SF45. 1 hit.
    PfamiPF03016. Exostosin. 1 hit.
    PF09258. Glyco_transf_64. 1 hit.
    [Graphical view]
    SUPFAMiSSF53448. SSF53448. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    P97464-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQAKKRYFIL LSAGSCLALL FYFGGVQFRA SRSHSRREEH SGRNGLHQPS    50
    PDHFWPRFPD ALRPFFPWDQ LENEDSSVHI SPRQKRDANS SIYKGKKCRM 100
    ESCFDFTLCK KNGFKVYVYP QQKGEKIAES YQNILAAIEG SRFYTSDPSQ 150
    ACLFVLSLDT LDRDQLSPQY VHNLRSKVQS LHLWNNGRNH LIFNLYSGTW 200
    PDYTEDVGFD IGQAMLAKAS ISTENFRPNF DVSIPLFSKD HPRTGGERGF 250
    LKFNTIPPLR KYMLVFKGKR YLTGIGSDTR NALYHVHNGE DVLLLTTCKH 300
    GKDWQKHKDS RCDRDNTEYE KYDYREMLHN ATFCLVPRGR RLGSFRFLEA 350
    LQAACVPVML SNGWELPFSE VINWNQAAVI GDERLLLQIP STIRSIHQDK 400
    ILALRQQTQF LWEAYFSSVE KIVLTTLEII QDRIFKHISR NSLIWNKHPG 450
    GLFVLPQYSS YLGDFPYYYA NLGLKPPSKF TAVIHAVTPL VSQSQPVLKL 500
    LVAAAKSQYC AQIIVLWNCD KPLPAKHRWP ATAVPVIVIE GESKVMSSRF 550
    LPYDNIITDA VLSLDEDTVL STTEVDFAFT VWQSFPERIV GYPARSHFWD 600
    NSKERWGYTS KWTNDYSMVL TGAAIYHKYY HYLYSHYLPA SLKNMVDQLA 650
    NCEDILMNFL VSAVTKLPPI KVTQKKQYKE TMMGQTSRAS RWADPDHFAQ 700
    RQSCMNTFAS WFGYMPLIHS QMRLDPVLFK DQVSILRKKY RDIERL 746
    Length:746
    Mass (Da):86,308
    Last modified:May 1, 1997 - v1
    Checksum:i5AC7F24BECEEDFF9
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti16 – 161C → S in CAA65443. (PubMed:9254013)Curated
    Sequence conflicti60 – 612DA → EP in CAA65443. (PubMed:9254013)Curated
    Sequence conflicti220 – 2201S → T in CAA65443. (PubMed:9254013)Curated
    Sequence conflicti486 – 4861A → P in CAA65443. (PubMed:9254013)Curated
    Sequence conflicti548 – 5481Missing in CAA65443. (PubMed:9254013)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U78539 mRNA. Translation: AAB41728.1.
    X96639 mRNA. Translation: CAA65443.1.
    BC004741 mRNA. Translation: AAH04741.1.
    CCDSiCCDS27466.1.
    RefSeqiNP_034292.2. NM_010162.2.
    UniGeneiMm.309395.

    Genome annotation databases

    EnsembliENSMUST00000077273; ENSMUSP00000076505; ENSMUSG00000061731.
    GeneIDi14042.
    KEGGimmu:14042.
    UCSCiuc007vrh.2. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U78539 mRNA. Translation: AAB41728.1 .
    X96639 mRNA. Translation: CAA65443.1 .
    BC004741 mRNA. Translation: AAH04741.1 .
    CCDSi CCDS27466.1.
    RefSeqi NP_034292.2. NM_010162.2.
    UniGenei Mm.309395.

    3D structure databases

    ProteinModelPortali P97464.
    SMRi P97464. Positions 512-724.
    ModBasei Search...
    MobiDBi Search...

    Protein family/group databases

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

    PTM databases

    PhosphoSitei P97464.

    Proteomic databases

    PRIDEi P97464.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000077273 ; ENSMUSP00000076505 ; ENSMUSG00000061731 .
    GeneIDi 14042.
    KEGGi mmu:14042.
    UCSCi uc007vrh.2. mouse.

    Organism-specific databases

    CTDi 2131.
    MGIi MGI:894663. Ext1.

    Phylogenomic databases

    eggNOGi NOG272619.
    HOGENOMi HOG000266990.
    HOVERGENi HBG003459.
    InParanoidi P97464.
    KOi K02366.
    OMAi VTTCKHG.
    OrthoDBi EOG7RBZ7Z.
    PhylomeDBi P97464.
    TreeFami TF314231.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    Reactomei REACT_198654. HS-GAG biosynthesis.

    Miscellaneous databases

    ChiTaRSi EXT1. mouse.
    NextBioi 284978.
    PROi P97464.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P97464.
    Bgeei P97464.
    CleanExi MM_EXT1.
    Genevestigatori P97464.

    Family and domain databases

    Gene3Di 3.90.550.10. 1 hit.
    InterProi IPR004263. Exostosin.
    IPR027670. Exostosin-1.
    IPR015338. HexNAc_Trfase_a.
    IPR029044. Nucleotide-diphossugar_trans.
    [Graphical view ]
    PANTHERi PTHR11062. PTHR11062. 1 hit.
    PTHR11062:SF45. PTHR11062:SF45. 1 hit.
    Pfami PF03016. Exostosin. 1 hit.
    PF09258. Glyco_transf_64. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53448. SSF53448. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15."
      Lohmann D.R., Buiting K., Luedecke H.-J., Horsthemke B.
      Cytogenet. Cell Genet. 76:164-166(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: C57BL/6 X CBA.
    2. "Isolation of the mouse cDNA homologous to the human EXT1 gene responsible for hereditary multiple exostoses."
      Lin X., Wells D.
      DNA Seq. 7:199-202(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: C57BL/6.
      Tissue: Embryo.
    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: Mammary gland.
    4. "Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene."
      Lin X., Gan L., Klein W.H., Wells D.
      Biochem. Biophys. Res. Commun. 248:738-743(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, DEVELOPMENTAL STAGE.
    5. "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate."
      McCormick C., Leduc Y., Martindale D., Mattison K., Esford L.E., Dyer A.P., Tufaro F.
      Nat. Genet. 19:158-161(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    6. "The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate."
      McCormick C., Duncan G., Goutsos K.T., Tufaro F.
      Proc. Natl. Acad. Sci. U.S.A. 97:668-673(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.

    Entry informationi

    Entry nameiEXT1_MOUSE
    AccessioniPrimary (citable) accession number: P97464
    Secondary accession number(s): Q61546
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: May 1, 1997
    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

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. PATHWAY comments
      Index of metabolic and biosynthesis pathways
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3