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Q9GZX9

- TWSG1_HUMAN

UniProt

Q9GZX9 - TWSG1_HUMAN

Protein

Twisted gastrulation protein homolog 1

Gene

TWSG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    May be involved in dorsoventral axis formation. Seems to antagonize BMP signaling by forming ternary complexes with CHRD and BMPs, thereby preventing BMPs from binding to their receptors. In addition to the anti-BMP function, also has pro-BMP activity, partly mediated by cleavage and degradation of CHRD, which releases BMPs from ternary complexes. May be an important modulator of BMP-regulated cartilage development and chondrocyte differentiation. May play a role in thymocyte development By similarity.By similarity

    GO - Biological processi

    1. BMP signaling pathway Source: Ensembl
    2. camera-type eye development Source: Ensembl
    3. cell differentiation Source: Ensembl
    4. forebrain development Source: Ensembl
    5. hemopoiesis Source: Ensembl
    6. mesoderm formation Source: Ensembl
    7. negative regulation of BMP signaling pathway Source: Ensembl
    8. negative regulation of osteoblast differentiation Source: Ensembl
    9. ossification Source: Ensembl
    10. positive regulation of BMP signaling pathway Source: Ensembl
    11. salivary gland morphogenesis Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Twisted gastrulation protein homolog 1
    Gene namesi
    Name:TWSG1
    Synonyms:TSG
    ORF Names:PSEC0250
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 18

    Organism-specific databases

    HGNCiHGNC:12429. TWSG1.

    Subcellular locationi

    Secreted By similarity

    GO - Cellular componenti

    1. extracellular space Source: Ensembl
    2. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37089.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2525Sequence AnalysisAdd
    BLAST
    Chaini26 – 223198Twisted gastrulation protein homolog 1PRO_0000278808Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi52 – 521N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi81 – 811N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    MaxQBiQ9GZX9.
    PaxDbiQ9GZX9.
    PRIDEiQ9GZX9.

    Expressioni

    Developmental stagei

    Expressed in brain throughout development.1 Publication

    Gene expression databases

    ArrayExpressiQ9GZX9.
    BgeeiQ9GZX9.
    CleanExiHS_TWSG1.
    GenevestigatoriQ9GZX9.

    Organism-specific databases

    HPAiHPA014898.

    Interactioni

    Subunit structurei

    Interacts with CHRD and BMP4. This interaction enhances CHRD/BMP4 complex formation. Interacts with BMP7 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi121338. 2 interactions.
    STRINGi9606.ENSP00000262120.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9GZX9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi26 – 7752Cys-richAdd
    BLAST

    Domaini

    The N-terminal domain is sufficient to interact with BMP4.By similarity

    Sequence similaritiesi

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG70213.
    HOGENOMiHOG000044674.
    HOVERGENiHBG055753.
    InParanoidiQ9GZX9.
    OMAiNCTVAFM.
    OrthoDBiEOG7J70GN.
    PhylomeDBiQ9GZX9.
    TreeFamiTF323922.

    Family and domain databases

    InterProiIPR006761. Tsg.
    [Graphical view]
    PANTHERiPTHR12312. PTHR12312. 1 hit.
    PfamiPF04668. Tsg. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9GZX9-1) [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

    MKLHYVAVLT LAILMFLTWL PESLSCNKAL CASDVSKCLI QELCQCRPGE    50
    GNCSCCKECM LCLGALWDEC CDCVGMCNPR NYSDTPPTSK STVEELHEPI 100
    PSLFRALTEG DTQLNWNIVS FPVAEELSHH ENLVSFLETV NQPHHQNVSV 150
    PSNNVHAPYS SDKEHMCTVV YFDDCMSIHQ CKISCESMGA SKYRWFHNAC 200
    CECIGPECID YGSKTVKCMN CMF 223
    Length:223
    Mass (Da):25,017
    Last modified:March 1, 2001 - v1
    Checksum:i34AEB1A836871772
    GO
    Isoform 2 (identifier: Q9GZX9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         75-75: G → D
         76-223: Missing.

    Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:75
    Mass (Da):8,284
    Checksum:i7734E50FBC9CE962
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti35 – 351V → E in BAC11693. (PubMed:16303743)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei75 – 751G → D in isoform 2. 1 PublicationVSP_042538
    Alternative sequencei76 – 223148Missing in isoform 2. 1 PublicationVSP_042539Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF196834 mRNA. Translation: AAG43468.1.
    AJ297391 mRNA. Translation: CAC05581.1.
    AF294628 mRNA. Translation: AAG10076.1.
    AK027629 mRNA. Translation: BAB55246.1. Sequence problems.
    AK075550 mRNA. Translation: BAC11693.1.
    AK315751 mRNA. Translation: BAG38105.1.
    AP001033 Genomic DNA. No translation available.
    CH471113 Genomic DNA. Translation: EAX01606.1.
    CH471113 Genomic DNA. Translation: EAX01607.1.
    BC020490 mRNA. Translation: AAH20490.1.
    CCDSiCCDS11844.1. [Q9GZX9-1]
    RefSeqiNP_065699.1. NM_020648.5. [Q9GZX9-1]
    UniGeneiHs.514685.

    Genome annotation databases

    EnsembliENST00000262120; ENSP00000262120; ENSG00000128791. [Q9GZX9-1]
    ENST00000583147; ENSP00000463331; ENSG00000128791. [Q9GZX9-2]
    GeneIDi57045.
    KEGGihsa:57045.
    UCSCiuc002knz.3. human. [Q9GZX9-1]

    Polymorphism databases

    DMDMi74733506.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF196834 mRNA. Translation: AAG43468.1 .
    AJ297391 mRNA. Translation: CAC05581.1 .
    AF294628 mRNA. Translation: AAG10076.1 .
    AK027629 mRNA. Translation: BAB55246.1 . Sequence problems.
    AK075550 mRNA. Translation: BAC11693.1 .
    AK315751 mRNA. Translation: BAG38105.1 .
    AP001033 Genomic DNA. No translation available.
    CH471113 Genomic DNA. Translation: EAX01606.1 .
    CH471113 Genomic DNA. Translation: EAX01607.1 .
    BC020490 mRNA. Translation: AAH20490.1 .
    CCDSi CCDS11844.1. [Q9GZX9-1 ]
    RefSeqi NP_065699.1. NM_020648.5. [Q9GZX9-1 ]
    UniGenei Hs.514685.

    3D structure databases

    ProteinModelPortali Q9GZX9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121338. 2 interactions.
    STRINGi 9606.ENSP00000262120.

    Polymorphism databases

    DMDMi 74733506.

    Proteomic databases

    MaxQBi Q9GZX9.
    PaxDbi Q9GZX9.
    PRIDEi Q9GZX9.

    Protocols and materials databases

    DNASUi 57045.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000262120 ; ENSP00000262120 ; ENSG00000128791 . [Q9GZX9-1 ]
    ENST00000583147 ; ENSP00000463331 ; ENSG00000128791 . [Q9GZX9-2 ]
    GeneIDi 57045.
    KEGGi hsa:57045.
    UCSCi uc002knz.3. human. [Q9GZX9-1 ]

    Organism-specific databases

    CTDi 57045.
    GeneCardsi GC18P009324.
    H-InvDB HIX0014324.
    HGNCi HGNC:12429. TWSG1.
    HPAi HPA014898.
    MIMi 605049. gene.
    neXtProti NX_Q9GZX9.
    PharmGKBi PA37089.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG70213.
    HOGENOMi HOG000044674.
    HOVERGENi HBG055753.
    InParanoidi Q9GZX9.
    OMAi NCTVAFM.
    OrthoDBi EOG7J70GN.
    PhylomeDBi Q9GZX9.
    TreeFami TF323922.

    Miscellaneous databases

    GeneWikii TWSG1.
    GenomeRNAii 57045.
    NextBioi 62803.
    PROi Q9GZX9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9GZX9.
    Bgeei Q9GZX9.
    CleanExi HS_TWSG1.
    Genevestigatori Q9GZX9.

    Family and domain databases

    InterProi IPR006761. Tsg.
    [Graphical view ]
    PANTHERi PTHR12312. PTHR12312. 1 hit.
    Pfami PF04668. Tsg. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Homologues of Twisted gastrulation are extracellular cofactors in antagonism of BMP signalling."
      Scott I.C., Blitz I.L., Pappano W.N., Maas S.A., Cho K.W.Y., Greenspan D.S.
      Nature 410:475-478(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Aorta.
    2. "Evolutionary conservation, developmental expression, and genomic mapping of mammalian Twisted gastrulation."
      Graf D., Timmons P.M., Hitchins M., Episkopou V., Moore G., Ito T., Fujiyama A., Fisher A.G., Merkenschlager M.
      Mamm. Genome 12:554-560(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DEVELOPMENTAL STAGE.
    3. "Human Twisted gastrulation protein: a new signal pathway for spermatogenesis."
      Li J.M., Sha J.H., Zhou Z.M.
      Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Testis.
    4. "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] (ISOFORMS 1 AND 2).
      Tissue: Teratocarcinoma and Uterus.
    5. "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries."
      Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.
      , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T.
      DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Teratocarcinoma.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    8. "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] (ISOFORM 1).
      Tissue: Lung.

    Entry informationi

    Entry nameiTWSG1_HUMAN
    AccessioniPrimary (citable) accession number: Q9GZX9
    Secondary accession number(s): B2RE08
    , D3DUH9, Q8NBI7, Q96K46
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 6, 2007
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 84 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 18
      Human chromosome 18: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3