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Q16384

- SSX1_HUMAN

UniProt

Q16384 - SSX1_HUMAN

Protein

Protein SSX1

Gene

SSX1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
  1. Functioni

    Could act as a modulator of transcription.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei62 – 632Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare)
    Sitei110 – 1112Breakpoint for translocation to form the SSXT-SSX1 fusion protein

    GO - Molecular functioni

    1. nucleic acid binding Source: InterPro
    2. transcription corepressor activity Source: ProtInc

    GO - Biological processi

    1. regulation of transcription, DNA-templated Source: UniProtKB-KW
    2. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein SSX1
    Alternative name(s):
    Cancer/testis antigen 5.1
    Short name:
    CT5.1
    Synovial sarcoma, X breakpoint 1
    Gene namesi
    Name:SSX1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome X

    Organism-specific databases

    HGNCiHGNC:11335. SSX1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: ProtInc

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving SSX1 may be a cause of synovial sarcoma. Translocation t(X;18)(p11.2;q11.2). The translocation is specifically found in more than 80% of synovial sarcoma. The fusion products SSXT-SSX1 or SSXT-SSX2 are probably responsible for transforming activity. Heterogeneity in the position of the breakpoint can occur (low frequency).

    Keywords - Diseasei

    Proto-oncogene

    Organism-specific databases

    MIMi312820. gene+phenotype.
    Orphaneti3273. Synovial sarcoma.
    PharmGKBiPA36159.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 188188Protein SSX1PRO_0000181828Add
    BLAST

    Proteomic databases

    PaxDbiQ16384.
    PRIDEiQ16384.

    PTM databases

    PhosphoSiteiQ16384.

    Expressioni

    Tissue specificityi

    Expressed at high level in the testis. Expressed at low level in thyroid. Not detected in tonsil, colon, lung, spleen, prostate, kidney, striated and smooth muscles. Detected in rhabdomyosarcoma and fibrosarcoma cell lines. Not detected in mesenchymal and epithelial cell lines.

    Gene expression databases

    BgeeiQ16384.
    CleanExiHS_SSX1.
    GenevestigatoriQ16384.

    Interactioni

    Protein-protein interaction databases

    BioGridi112634. 2 interactions.
    STRINGi9606.ENSP00000366118.

    Structurei

    3D structure databases

    ProteinModelPortaliQ16384.
    SMRiQ16384. Positions 19-70.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini20 – 8364KRAB-relatedPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the SSX family.Curated
    Contains 1 KRAB-related domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG147011.
    HOGENOMiHOG000231461.
    HOVERGENiHBG002056.
    InParanoidiQ16384.
    KOiK15624.
    OMAiRRIQVEH.
    OrthoDBiEOG7DNNX1.
    PhylomeDBiQ16384.
    TreeFamiTF338517.

    Family and domain databases

    InterProiIPR001909. Krueppel-associated_box.
    IPR003655. Krueppel-associated_box-rel.
    IPR028804. SSX.
    IPR019041. SSXRD_motif.
    [Graphical view]
    PANTHERiPTHR14112. PTHR14112. 1 hit.
    PfamiPF09514. SSXRD. 1 hit.
    [Graphical view]
    SMARTiSM00349. KRAB. 1 hit.
    [Graphical view]
    SUPFAMiSSF109640. SSF109640. 1 hit.
    PROSITEiPS50806. KRAB_RELATED. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q16384-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNGDDTFAKR PRDDAKASEK RSKAFDDIAT YFSKKEWKKM KYSEKISYVY    50
    MKRNYKAMTK LGFKVTLPPF MCNKQATDFQ GNDFDNDHNR RIQVEHPQMT 100
    FGRLHRIIPK IMPKKPAEDE NDSKGVSEAS GPQNDGKQLH PPGKANISEK 150
    INKRSGPKRG KHAWTHRLRE RKQLVIYEEI SDPEEDDE 188
    Length:188
    Mass (Da):21,931
    Last modified:December 15, 1998 - v2
    Checksum:iE440D1B2AE3AE9F7
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X86174 mRNA. Translation: CAA60110.1.
    AL683817 Genomic DNA. Translation: CAI41141.1.
    BC001003 mRNA. Translation: AAH01003.1.
    BC125151 mRNA. Translation: AAI25152.1.
    BC128611 mRNA. Translation: AAI28612.1.
    BC133693 mRNA. Translation: AAI33694.1.
    BC150487 mRNA. Translation: AAI50488.1.
    S79325 mRNA. Translation: AAB35378.1.
    CCDSiCCDS14290.1.
    PIRiS55057.
    RefSeqiNP_001265620.1. NM_001278691.1.
    NP_005626.1. NM_005635.3.
    UniGeneiHs.434142.

    Genome annotation databases

    EnsembliENST00000376919; ENSP00000366118; ENSG00000126752.
    GeneIDi6756.
    KEGGihsa:6756.
    UCSCiuc004djb.1. human.

    Polymorphism databases

    DMDMi3915027.

    Keywords - Coding sequence diversityi

    Chromosomal rearrangement

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X86174 mRNA. Translation: CAA60110.1 .
    AL683817 Genomic DNA. Translation: CAI41141.1 .
    BC001003 mRNA. Translation: AAH01003.1 .
    BC125151 mRNA. Translation: AAI25152.1 .
    BC128611 mRNA. Translation: AAI28612.1 .
    BC133693 mRNA. Translation: AAI33694.1 .
    BC150487 mRNA. Translation: AAI50488.1 .
    S79325 mRNA. Translation: AAB35378.1 .
    CCDSi CCDS14290.1.
    PIRi S55057.
    RefSeqi NP_001265620.1. NM_001278691.1.
    NP_005626.1. NM_005635.3.
    UniGenei Hs.434142.

    3D structure databases

    ProteinModelPortali Q16384.
    SMRi Q16384. Positions 19-70.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112634. 2 interactions.
    STRINGi 9606.ENSP00000366118.

    PTM databases

    PhosphoSitei Q16384.

    Polymorphism databases

    DMDMi 3915027.

    Proteomic databases

    PaxDbi Q16384.
    PRIDEi Q16384.

    Protocols and materials databases

    DNASUi 6756.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000376919 ; ENSP00000366118 ; ENSG00000126752 .
    GeneIDi 6756.
    KEGGi hsa:6756.
    UCSCi uc004djb.1. human.

    Organism-specific databases

    CTDi 6756.
    GeneCardsi GC0XP048114.
    HGNCi HGNC:11335. SSX1.
    MIMi 312820. gene+phenotype.
    neXtProti NX_Q16384.
    Orphaneti 3273. Synovial sarcoma.
    PharmGKBi PA36159.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG147011.
    HOGENOMi HOG000231461.
    HOVERGENi HBG002056.
    InParanoidi Q16384.
    KOi K15624.
    OMAi RRIQVEH.
    OrthoDBi EOG7DNNX1.
    PhylomeDBi Q16384.
    TreeFami TF338517.

    Miscellaneous databases

    ChiTaRSi SSX1. human.
    GeneWikii SSX1.
    GenomeRNAii 6756.
    NextBioi 26356.
    PROi Q16384.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q16384.
    CleanExi HS_SSX1.
    Genevestigatori Q16384.

    Family and domain databases

    InterProi IPR001909. Krueppel-associated_box.
    IPR003655. Krueppel-associated_box-rel.
    IPR028804. SSX.
    IPR019041. SSXRD_motif.
    [Graphical view ]
    PANTHERi PTHR14112. PTHR14112. 1 hit.
    Pfami PF09514. SSXRD. 1 hit.
    [Graphical view ]
    SMARTi SM00349. KRAB. 1 hit.
    [Graphical view ]
    SUPFAMi SSF109640. SSF109640. 1 hit.
    PROSITEi PS50806. KRAB_RELATED. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology to the Kruppel-associated box in human synovial sarcoma."
      Crew A.J., Clark J., Fisher C., Gill S., Grimer R., Chand A., Shipley J., Gusterson B.A., Cooper C.S.
      EMBO J. 14:2333-2340(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Fibrosarcoma.
    2. "The DNA sequence of the human X chromosome."
      Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
      , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
      Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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: Placenta and Skin.
    4. "Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in t(X;18)(p11.2;q11.2)-positive synovial sarcomas."
      de Leeuw B., Balemans M., Olde Weghuis D., Geurts van Kessel A.
      Hum. Mol. Genet. 4:1097-1099(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 111-188.
      Tissue: Synovial sarcoma.

    Entry informationi

    Entry nameiSSX1_HUMAN
    AccessioniPrimary (citable) accession number: Q16384
    Secondary accession number(s): A3KN76, Q08AJ2, Q5JQ64
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: December 15, 1998
    Last modified: October 1, 2014
    This is version 117 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 X
      Human chromosome X: 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