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SSX1_HUMAN
ID   SSX1_HUMAN              Reviewed;         188 AA.
AC   Q16384; A3KN76; Q08AJ2; Q5JQ64;
DT   15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT   15-DEC-1998, sequence version 2.
DT   03-AUG-2022, entry version 164.
DE   RecName: Full=Protein SSX1;
DE   AltName: Full=Cancer/testis antigen 5.1;
DE            Short=CT5.1;
DE   AltName: Full=Synovial sarcoma, X breakpoint 1;
GN   Name=SSX1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], AND CHROMOSOMAL TRANSLOCATION WITH SS18.
RC   TISSUE=Fibrosarcoma;
RX   PubMed=7539744; DOI=10.1002/j.1460-2075.1995.tb07228.x;
RA   Crew A.J., Clark J., Fisher C., Gill S., Grimer R., Chand A., Shipley J.,
RA   Gusterson B.A., Cooper C.S.;
RT   "Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology
RT   to the Kruppel-associated box in human synovial sarcoma.";
RL   EMBO J. 14:2333-2340(1995).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15772651; DOI=10.1038/nature03440;
RA   Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA   Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA   Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA   Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA   Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA   Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA   Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA   Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA   Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA   Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA   Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA   Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA   Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA   Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA   Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA   Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA   Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA   Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA   Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA   Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA   Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA   Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA   Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA   Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA   Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA   Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA   Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA   Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA   Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA   Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA   McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA   Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA   Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA   Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA   Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA   Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA   Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA   Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA   Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA   Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA   d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA   Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA   Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA   Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA   Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA   Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA   Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA   Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA   Rogers J., Bentley D.R.;
RT   "The DNA sequence of the human X chromosome.";
RL   Nature 434:325-337(2005).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Placenta, and Skin;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 111-188.
RC   TISSUE=Synovial sarcoma;
RX   PubMed=7655467; DOI=10.1093/hmg/4.6.1097;
RA   de Leeuw B., Balemans M., Olde Weghuis D., Geurts van Kessel A.;
RT   "Identification of two alternative fusion genes, SYT-SSX1 and SYT-SSX2, in
RT   t(X;18)(p11.2;q11.2)-positive synovial sarcomas.";
RL   Hum. Mol. Genet. 4:1097-1099(1995).
RN   [5]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-123, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Erythroleukemia;
RX   PubMed=23186163; DOI=10.1021/pr300630k;
RA   Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA   Mohammed S.;
RT   "Toward a comprehensive characterization of a human cancer cell
RT   phosphoproteome.";
RL   J. Proteome Res. 12:260-271(2013).
CC   -!- FUNCTION: Could act as a modulator of transcription.
CC   -!- INTERACTION:
CC       Q16384; Q96GN5: CDCA7L; NbExp=3; IntAct=EBI-10237585, EBI-5278764;
CC       Q16384; Q9UBF1: MAGEC2; NbExp=3; IntAct=EBI-10237585, EBI-5651487;
CC       Q16384; Q8N3F0: MTURN; NbExp=3; IntAct=EBI-10237585, EBI-11980301;
CC   -!- TISSUE SPECIFICITY: Expressed at high level in the testis. Expressed at
CC       low level in thyroid. Not detected in tonsil, colon, lung, spleen,
CC       prostate, kidney, striated and smooth muscles. Detected in
CC       rhabdomyosarcoma and fibrosarcoma cell lines. Not detected in
CC       mesenchymal and epithelial cell lines.
CC   -!- DISEASE: Note=A chromosomal aberration involving SSX1 may be a cause of
CC       synovial sarcoma. Translocation t(X;18)(p11.2;q11.2). The translocation
CC       is specifically found in more than 80% of synovial sarcoma. The fusion
CC       products SSXT-SSX1 or SSXT-SSX2 are probably responsible for
CC       transforming activity. Heterogeneity in the position of the breakpoint
CC       can occur (low frequency). {ECO:0000269|PubMed:7539744}.
CC   -!- SIMILARITY: Belongs to the SSX family. {ECO:0000305}.
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DR   EMBL; X86174; CAA60110.1; -; mRNA.
DR   EMBL; AL683817; CAI41141.1; -; Genomic_DNA.
DR   EMBL; BC001003; AAH01003.1; -; mRNA.
DR   EMBL; BC125151; AAI25152.1; -; mRNA.
DR   EMBL; BC128611; AAI28612.1; -; mRNA.
DR   EMBL; BC133693; AAI33694.1; -; mRNA.
DR   EMBL; BC150487; AAI50488.1; -; mRNA.
DR   EMBL; S79325; AAB35378.1; -; mRNA.
DR   CCDS; CCDS14290.1; -.
DR   PIR; S55057; S55057.
DR   RefSeq; NP_001265620.1; NM_001278691.1.
DR   RefSeq; NP_005626.1; NM_005635.3.
DR   AlphaFoldDB; Q16384; -.
DR   BioGRID; 112634; 11.
DR   IntAct; Q16384; 5.
DR   STRING; 9606.ENSP00000366118; -.
DR   iPTMnet; Q16384; -.
DR   PhosphoSitePlus; Q16384; -.
DR   BioMuta; SSX1; -.
DR   DMDM; 3915027; -.
DR   MassIVE; Q16384; -.
DR   PaxDb; Q16384; -.
DR   PeptideAtlas; Q16384; -.
DR   PRIDE; Q16384; -.
DR   ProteomicsDB; 60866; -.
DR   Antibodypedia; 25598; 227 antibodies from 22 providers.
DR   DNASU; 6756; -.
DR   Ensembl; ENST00000376919.4; ENSP00000366118.3; ENSG00000126752.8.
DR   GeneID; 6756; -.
DR   KEGG; hsa:6756; -.
DR   MANE-Select; ENST00000376919.4; ENSP00000366118.3; NM_005635.4; NP_005626.1.
DR   UCSC; uc004djb.2; human.
DR   CTD; 6756; -.
DR   DisGeNET; 6756; -.
DR   GeneCards; SSX1; -.
DR   HGNC; HGNC:11335; SSX1.
DR   HPA; ENSG00000126752; Tissue enriched (testis).
DR   MalaCards; SSX1; -.
DR   MIM; 312820; gene+phenotype.
DR   neXtProt; NX_Q16384; -.
DR   OpenTargets; ENSG00000126752; -.
DR   Orphanet; 3273; Synovial sarcoma.
DR   PharmGKB; PA36159; -.
DR   VEuPathDB; HostDB:ENSG00000126752; -.
DR   eggNOG; ENOG502RU1A; Eukaryota.
DR   GeneTree; ENSGT00390000012484; -.
DR   HOGENOM; CLU_097196_1_0_1; -.
DR   InParanoid; Q16384; -.
DR   OMA; CPPGNAN; -.
DR   OrthoDB; 1270676at2759; -.
DR   PhylomeDB; Q16384; -.
DR   TreeFam; TF338517; -.
DR   PathwayCommons; Q16384; -.
DR   SignaLink; Q16384; -.
DR   BioGRID-ORCS; 6756; 48 hits in 635 CRISPR screens.
DR   ChiTaRS; SSX1; human.
DR   GeneWiki; SSX1; -.
DR   GenomeRNAi; 6756; -.
DR   Pharos; Q16384; Tbio.
DR   PRO; PR:Q16384; -.
DR   Proteomes; UP000005640; Chromosome X.
DR   RNAct; Q16384; protein.
DR   Bgee; ENSG00000126752; Expressed in buccal mucosa cell and 40 other tissues.
DR   Genevisible; Q16384; HS.
DR   GO; GO:0005634; C:nucleus; IDA:GO_Central.
DR   GO; GO:0003714; F:transcription corepressor activity; IMP:GO_Central.
DR   GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:ARUK-UCL.
DR   InterPro; IPR003655; aKRAB.
DR   InterPro; IPR001909; KRAB.
DR   InterPro; IPR036051; KRAB_dom_sf.
DR   InterPro; IPR028804; SSX.
DR   InterPro; IPR019041; SSXRD_motif.
DR   PANTHER; PTHR14112; PTHR14112; 1.
DR   Pfam; PF09514; SSXRD; 1.
DR   SMART; SM00349; KRAB; 1.
DR   SUPFAM; SSF109640; SSF109640; 1.
DR   PROSITE; PS50806; KRAB_RELATED; 1.
PE   1: Evidence at protein level;
KW   Chromosomal rearrangement; Phosphoprotein; Proto-oncogene;
KW   Reference proteome; Transcription; Transcription regulation.
FT   CHAIN           1..188
FT                   /note="Protein SSX1"
FT                   /id="PRO_0000181828"
FT   DOMAIN          20..83
FT                   /note="KRAB-related"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00120"
FT   REGION          1..22
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          111..188
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        111..125
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   SITE            62..63
FT                   /note="Breakpoint for translocation to form the SSXT-SSX1
FT                   fusion protein (rare)"
FT                   /evidence="ECO:0000269|PubMed:7539744"
FT   SITE            110..111
FT                   /note="Breakpoint for translocation to form the SSXT-SSX1
FT                   fusion protein"
FT                   /evidence="ECO:0000269|PubMed:7539744"
FT   MOD_RES         123
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
SQ   SEQUENCE   188 AA;  21931 MW;  E440D1B2AE3AE9F7 CRC64;
     MNGDDTFAKR PRDDAKASEK RSKAFDDIAT YFSKKEWKKM KYSEKISYVY MKRNYKAMTK
     LGFKVTLPPF MCNKQATDFQ GNDFDNDHNR RIQVEHPQMT FGRLHRIIPK IMPKKPAEDE
     NDSKGVSEAS GPQNDGKQLH PPGKANISEK INKRSGPKRG KHAWTHRLRE RKQLVIYEEI
     SDPEEDDE
 
 
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