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Q16394

- EXT1_HUMAN

UniProt

Q16394 - EXT1_HUMAN

Protein

Exostosin-1

Gene

EXT1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 150 (01 Oct 2014)
      Sequence version 2 (27 Mar 2002)
      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. Appears to be a tumor suppressor.1 Publication

    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: BHF-UCL
    2. glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity Source: UniProtKB
    3. glucuronosyltransferase activity Source: BHF-UCL
    4. heparan sulfate N-acetylglucosaminyltransferase activity Source: BHF-UCL
    5. N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity Source: UniProtKB
    6. protein heterodimerization activity Source: BHF-UCL
    7. protein homodimerization activity Source: BHF-UCL
    8. transferase activity, transferring glycosyl groups Source: BHF-UCL

    GO - Biological processi

    1. axon guidance Source: Ensembl
    2. carbohydrate metabolic process Source: Reactome
    3. cellular polysaccharide biosynthetic process Source: BHF-UCL
    4. embryonic skeletal joint development Source: Ensembl
    5. endoderm development Source: Ensembl
    6. gastrulation Source: Ensembl
    7. glycosaminoglycan biosynthetic process Source: BHF-UCL
    8. glycosaminoglycan metabolic process Source: Reactome
    9. heparan sulfate proteoglycan biosynthetic process Source: UniProtKB
    10. heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Source: BHF-UCL
    11. mesoderm development Source: Ensembl
    12. olfactory bulb development Source: Ensembl
    13. ossification Source: BHF-UCL
    14. protein glycosylation Source: UniProtKB-UniPathway
    15. signal transduction Source: ProtInc
    16. skeletal system development Source: ProtInc
    17. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Glycosyltransferase, Transferase

    Enzyme and pathway databases

    BioCyciMetaCyc:HS00012-MONOMER.
    ReactomeiREACT_121248. 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
    Putative tumor suppressor protein EXT1
    Gene namesi
    Name:EXT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:3512. EXT1.

    Subcellular locationi

    Endoplasmic reticulum membrane 1 Publication; Single-pass type II membrane protein 1 Publication. Golgi apparatus membrane 1 Publication; Single-pass type II membrane protein 1 Publication
    Note: The EXT1/EXT2 complex is localized in the Golgi apparatus.

    GO - Cellular componenti

    1. endoplasmic reticulum Source: BHF-UCL
    2. endoplasmic reticulum membrane Source: BHF-UCL
    3. Golgi apparatus Source: BHF-UCL
    4. Golgi membrane Source: BHF-UCL
    5. integral component of endoplasmic reticulum membrane Source: UniProtKB
    6. integral component of membrane Source: ProtInc

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hereditary multiple exostoses 1 (EXT1) [MIM:133700]: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.8 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271Q → K in EXT1; no loss of activity.
    VAR_012815
    Natural varianti164 – 1641D → H in EXT1; loss of activity. 1 Publication
    VAR_012816
    Natural varianti215 – 2217Missing in EXT1.
    VAR_012817
    Natural varianti280 – 2801R → G in EXT1; loss of activity. 3 Publications
    VAR_002370
    Natural varianti280 – 2801R → S in EXT1; loss of activity. 1 Publication
    VAR_002371
    Natural varianti339 – 3391G → D in EXT1; loss of activity. 1 Publication
    VAR_002372
    Natural varianti340 – 3401R → C in EXT1; loss of activity; still able to form an oligomeric complex. 1 Publication
    VAR_002373
    Natural varianti340 – 3401R → H in EXT1; loss of activity. 2 Publications
    VAR_002374
    Natural varianti340 – 3401R → L in EXT1; loss of activity. 1 Publication
    VAR_002375
    Natural varianti340 – 3401R → S in EXT1; loss of activity. 1 Publication
    VAR_002376
    Natural varianti486 – 4861A → V in EXT1; no loss of activity. 1 Publication
    Corresponds to variant rs188859975 [ dbSNP | Ensembl ].
    VAR_012821
    Natural varianti496 – 4961P → L in EXT1; no loss of activity. 1 Publication
    VAR_012822
    Natural varianti627 – 6271Missing in EXT1; loss of activity. 1 Publication
    VAR_002377
    Tricho-rhino-phalangeal syndrome 2 (TRPS2) [MIM:150230]: A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation.
    Note: The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.
    Chondrosarcoma (CHDSA) [MIM:215300]: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi27 – 271Q → A or P: No effect on heparan-sulfate biosynthesis. 1 Publication
    Mutagenesisi27 – 271Missing: No effect on heparan-sulfate biosynthesis. 1 Publication
    Mutagenesisi164 – 1641D → E: Abolishes heparan-sulfate biosynthesis. 1 Publication
    Mutagenesisi164 – 1641Missing: Abolishes heparan-sulfate biosynthesis. 1 Publication
    Mutagenesisi316 – 3161N → A: No effect on heparan-sulfate biosynthesis. 1 Publication
    Mutagenesisi316 – 3161Missing: No effect on heparan-sulfate biosynthesis. 1 Publication
    Mutagenesisi486 – 4861A → H: No effect on heparan-sulfate biosynthesis. 1 Publication
    Mutagenesisi486 – 4861Missing: No effect on heparan-sulfate biosynthesis. 1 Publication
    Mutagenesisi496 – 4961P → H: No effect on heparan-sulfate biosynthesis. 1 Publication
    Mutagenesisi496 – 4961Missing: No effect on heparan-sulfate biosynthesis. 1 Publication

    Keywords - Diseasei

    Disease mutation, Hereditary multiple exostoses, Tumor suppressor

    Organism-specific databases

    MIMi133700. phenotype.
    150230. phenotype.
    215300. phenotype.
    Orphaneti55880. Chondrosarcoma.
    502. Langer-Giedion syndrome.
    321. Multiple osteochondromas.
    PharmGKBiPA27924.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 746746Exostosin-1PRO_0000149648Add
    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

    MaxQBiQ16394.
    PaxDbiQ16394.
    PRIDEiQ16394.

    PTM databases

    PhosphoSiteiQ16394.

    Expressioni

    Tissue specificityi

    Ubiquitous.

    Gene expression databases

    ArrayExpressiQ16394.
    BgeeiQ16394.
    CleanExiHS_EXT1.
    GenevestigatoriQ16394.

    Organism-specific databases

    HPAiHPA044394.

    Interactioni

    Subunit structurei

    Forms a homo/hetero-oligomeric complex with EXT2.1 Publication

    Protein-protein interaction databases

    BioGridi108432. 5 interactions.
    IntActiQ16394. 1 interaction.
    MINTiMINT-120274.
    STRINGi9606.ENSP00000367446.

    Structurei

    3D structure databases

    ProteinModelPortaliQ16394.
    SMRiQ16394. 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.
    InParanoidiQ16394.
    KOiK02366.
    OMAiVTTCKHG.
    OrthoDBiEOG7RBZ7Z.
    PhylomeDBiQ16394.
    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.

    Q16394-1 [UniParc]FASTAAdd to Basket

    « Hide

    MQAKKRYFIL LSAGSCLALL FYFGGLQFRA SRSHSRREEH SGRNGLHHPS    50
    PDHFWPRFPD ALRPFVPWDQ 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 DVVLLTTCKH 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 ATAVPVVVIE 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):86,255
    Last modified:March 27, 2002 - v2
    Checksum:i842CD7E6C1312C1A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti60 – 612DA → EP(PubMed:7550340)Curated
    Sequence conflicti60 – 612DA → EP1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271Q → K in EXT1; no loss of activity.
    VAR_012815
    Natural varianti164 – 1641D → H in EXT1; loss of activity. 1 Publication
    VAR_012816
    Natural varianti215 – 2228MLAKASIS → I in isolated osteochondroma; somatic mutation. 1 Publication
    VAR_012818
    Natural varianti215 – 2217Missing in EXT1.
    VAR_012817
    Natural varianti235 – 2395Missing in multiple osteochondromas.
    VAR_012819
    Natural varianti280 – 2801R → G in EXT1; loss of activity. 3 Publications
    VAR_002370
    Natural varianti280 – 2801R → S in EXT1; loss of activity. 1 Publication
    VAR_002371
    Natural varianti316 – 3161N → S in chondrosarcoma; no loss of activity. 1 Publication
    VAR_012820
    Natural varianti339 – 3391G → D in EXT1; loss of activity. 1 Publication
    VAR_002372
    Natural varianti340 – 3401R → C in EXT1; loss of activity; still able to form an oligomeric complex. 1 Publication
    VAR_002373
    Natural varianti340 – 3401R → H in EXT1; loss of activity. 2 Publications
    VAR_002374
    Natural varianti340 – 3401R → L in EXT1; loss of activity. 1 Publication
    VAR_002375
    Natural varianti340 – 3401R → S in EXT1; loss of activity. 1 Publication
    VAR_002376
    Natural varianti486 – 4861A → V in EXT1; no loss of activity. 1 Publication
    Corresponds to variant rs188859975 [ dbSNP | Ensembl ].
    VAR_012821
    Natural varianti496 – 4961P → L in EXT1; no loss of activity. 1 Publication
    VAR_012822
    Natural varianti627 – 6271Missing in EXT1; loss of activity. 1 Publication
    VAR_002377

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S79639 mRNA. Translation: AAB62283.1.
    AK313129 mRNA. Translation: BAG35949.1.
    CH471060 Genomic DNA. Translation: EAW91972.1.
    BC001174 mRNA. Translation: AAH01174.1.
    U70539 Genomic DNA. Translation: AAC51154.1.
    CCDSiCCDS6324.1.
    RefSeqiNP_000118.2. NM_000127.2.
    UniGeneiHs.492618.

    Genome annotation databases

    EnsembliENST00000378204; ENSP00000367446; ENSG00000182197.
    GeneIDi2131.
    KEGGihsa:2131.
    UCSCiuc003yok.1. human.

    Polymorphism databases

    DMDMi20141422.

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    GGDB

    GlycoGene database

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    S79639 mRNA. Translation: AAB62283.1 .
    AK313129 mRNA. Translation: BAG35949.1 .
    CH471060 Genomic DNA. Translation: EAW91972.1 .
    BC001174 mRNA. Translation: AAH01174.1 .
    U70539 Genomic DNA. Translation: AAC51154.1 .
    CCDSi CCDS6324.1.
    RefSeqi NP_000118.2. NM_000127.2.
    UniGenei Hs.492618.

    3D structure databases

    ProteinModelPortali Q16394.
    SMRi Q16394. Positions 512-724.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108432. 5 interactions.
    IntActi Q16394. 1 interaction.
    MINTi MINT-120274.
    STRINGi 9606.ENSP00000367446.

    Protein family/group databases

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

    PTM databases

    PhosphoSitei Q16394.

    Polymorphism databases

    DMDMi 20141422.

    Proteomic databases

    MaxQBi Q16394.
    PaxDbi Q16394.
    PRIDEi Q16394.

    Protocols and materials databases

    DNASUi 2131.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378204 ; ENSP00000367446 ; ENSG00000182197 .
    GeneIDi 2131.
    KEGGi hsa:2131.
    UCSCi uc003yok.1. human.

    Organism-specific databases

    CTDi 2131.
    GeneCardsi GC08M118880.
    GeneReviewsi EXT1.
    HGNCi HGNC:3512. EXT1.
    HPAi HPA044394.
    MIMi 133700. phenotype.
    150230. phenotype.
    215300. phenotype.
    608177. gene.
    neXtProti NX_Q16394.
    Orphaneti 55880. Chondrosarcoma.
    502. Langer-Giedion syndrome.
    321. Multiple osteochondromas.
    PharmGKBi PA27924.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG272619.
    HOGENOMi HOG000266990.
    HOVERGENi HBG003459.
    InParanoidi Q16394.
    KOi K02366.
    OMAi VTTCKHG.
    OrthoDBi EOG7RBZ7Z.
    PhylomeDBi Q16394.
    TreeFami TF314231.

    Enzyme and pathway databases

    UniPathwayi UPA00378 .
    BioCyci MetaCyc:HS00012-MONOMER.
    Reactomei REACT_121248. HS-GAG biosynthesis.

    Miscellaneous databases

    ChiTaRSi EXT1. human.
    GeneWikii EXT1.
    GenomeRNAii 2131.
    NextBioi 8611.
    PROi Q16394.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q16394.
    Bgeei Q16394.
    CleanExi HS_EXT1.
    Genevestigatori Q16394.

    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. "Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)."
      Ahn J., Luedecke H.-J., Lindow S., Horton W.A., Lee B., Wagner M.J., Horsthemke B., Wells D.E.
      Nat. Genet. 11:137-143(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Placenta.
    2. "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].
      Tissue: Tongue.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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: Brain.
    5. "Genomic organization and promoter structure of the human EXT1 gene."
      Luedecke H.-J., Ahn J., Lin X., Hill A., Wagner M.J., Schomburg L., Horsthemke B., Wells D.E.
      Genomics 40:351-354(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-320.
      Tissue: Lung.
    6. "Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus."
      Kobayashi S., Morimoto K., Shimizu T., Takahashi M., Kurosawa H., Shirasawa T.
      Biochem. Biophys. Res. Commun. 268:860-867(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT, SUBCELLULAR LOCATION.
    7. "The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins."
      Duncan G., McCormick C., Tufaro F.
      J. Clin. Invest. 108:511-516(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    8. "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes."
      Wuyts W., Van Hul W.
      Hum. Mutat. 15:220-227(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    9. "Spectrum of EXT1 mutations in hereditary multiple exostoses."
      Raskind W.H., Matsushita M., Conrad E.U. III, Wells D.E., Sandell L.J., Wagner M.J., Houck J.
      Am. J. Hum. Genet. 59:A280-A280(1996)
      Cited for: VARIANTS EXT1 GLY-280 AND HIS-340.
    10. "Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies."
      Hecht J.T., Hogue D.A., Wang Y., Blanton S.H., Wagner M.J., Strong L.C., Raskind W.H., Hansen M.F., Wells D.E.
      Am. J. Hum. Genet. 60:80-86(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXT1 LEU-340.
    11. "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses."
      Philippe C., Porter D.E., Emerton M.E., Wells D.E., Simpson A.H.R.W., Monaco A.P.
      Am. J. Hum. Genet. 61:520-528(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EXT1 ASP-339 AND CYS-340.
    12. Cited for: VARIANTS EXT1 GLY-280 AND SER-340.
    13. "Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses."
      Raskind W.H., Conrad E.U. III, Matsushita M., Wijsman E.M., Wells D.E., Chapman N., Sandell L.J., Wagner M.J., Houck J.
      Hum. Mutat. 11:231-239(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EXT1 GLY-280; SER-280; HIS-340 AND HIS-627 DEL.
    14. "EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas."
      Bovee J.V.M.G., Cleton-Jansen A.-M., Wuyts W., Caethoven G., Taminiau A.H.M., Bakker E., van Hul W., Cornelisse C.J., Hogendoorn P.C.W.
      Am. J. Hum. Genet. 65:689-698(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EXT1 HIS-164; 235-PRO--LYS-239 DEL AND SER-316.
    15. "Mutation analysis of hereditary multiple exostoses in the Chinese."
      Xu L., Xia J., Jiang H., Zhou J., Li H., Wang D., Pan Q., Long Z., Fan C., Deng H.-X.
      Hum. Genet. 105:45-50(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS EXT1 VAL-486 AND LEU-496.
    16. "Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes."
      Bernard M.A., Hall C.E., Hogue D.A., Cole W.G., Scott A., Snuggs M.B., Clines G.A., Luedecke H.-J., Lovett M., Van Winkle W.B., Hecht J.T.
      Cell Motil. Cytoskeleton 48:149-162(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT EXT1 215-MET--SER-221 DEL, VARIANT OSTEOCHONDROMA 215-MET--SER-222 DELINS ILE.
    17. "Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity."
      Cheung P.K., McCormick C., Crawford B.E., Esko J.D., Tufaro F., Duncan G.
      Am. J. Hum. Genet. 69:55-66(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS, MUTAGENESIS OF GLN-27; ASP-164; ASN-316; ALA-486 AND PRO-496.

    Entry informationi

    Entry nameiEXT1_HUMAN
    AccessioniPrimary (citable) accession number: Q16394
    Secondary accession number(s): B2R7V2, Q9BVI9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: March 27, 2002
    Last modified: October 1, 2014
    This is version 150 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 8
      Human chromosome 8: 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

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