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Q16384 (SSX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 115. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein SSX1
Alternative name(s):
Cancer/testis antigen 5.1
Short name=CT5.1
Synovial sarcoma, X breakpoint 1
Gene names
Name:SSX1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length188 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Could act as a modulator of transcription.

Tissue specificity

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.

Involvement in disease

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).

Sequence similarities

Belongs to the SSX family.

Contains 1 KRAB-related domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 188188Protein SSX1
PRO_0000181828

Regions

Domain20 – 8364KRAB-related

Sites

Site62 – 632Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare)
Site110 – 1112Breakpoint for translocation to form the SSXT-SSX1 fusion protein

Sequences

Sequence LengthMass (Da)Tools
Q16384 [UniParc].

Last modified December 15, 1998. Version 2.
Checksum: E440D1B2AE3AE9F7

FASTA18821,931
        10         20         30         40         50         60 
MNGDDTFAKR PRDDAKASEK RSKAFDDIAT YFSKKEWKKM KYSEKISYVY MKRNYKAMTK 

        70         80         90        100        110        120 
LGFKVTLPPF MCNKQATDFQ GNDFDNDHNR RIQVEHPQMT FGRLHRIIPK IMPKKPAEDE 

       130        140        150        160        170        180 
NDSKGVSEAS GPQNDGKQLH PPGKANISEK INKRSGPKRG KHAWTHRLRE RKQLVIYEEI 


SDPEEDDE 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRS55057.
RefSeqNP_001265620.1. NM_001278691.1.
NP_005626.1. NM_005635.3.
UniGeneHs.434142.

3D structure databases

ProteinModelPortalQ16384.
SMRQ16384. Positions 19-70.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112634. 2 interactions.
STRING9606.ENSP00000366118.

PTM databases

PhosphoSiteQ16384.

Polymorphism databases

DMDM3915027.

Proteomic databases

PaxDbQ16384.
PRIDEQ16384.

Protocols and materials databases

DNASU6756.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000376919; ENSP00000366118; ENSG00000126752.
ENST00000596574; ENSP00000472663; ENSG00000268546.
GeneID6756.
KEGGhsa:6756.
UCSCuc004djb.1. human.

Organism-specific databases

CTD6756.
GeneCardsGC0XP048114.
HGNCHGNC:11335. SSX1.
MIM312820. gene+phenotype.
neXtProtNX_Q16384.
Orphanet3273. Synovial sarcoma.
PharmGKBPA36159.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG147011.
HOGENOMHOG000231461.
HOVERGENHBG002056.
InParanoidQ16384.
KOK15624.
OMARRIQVEH.
OrthoDBEOG7DNNX1.
PhylomeDBQ16384.
TreeFamTF338517.

Gene expression databases

BgeeQ16384.
CleanExHS_SSX1.
GenevestigatorQ16384.

Family and domain databases

InterProIPR001909. Krueppel-associated_box.
IPR003655. Krueppel-associated_box-rel.
IPR028804. SSX.
IPR019041. SSXRD_motif.
[Graphical view]
PANTHERPTHR14112. PTHR14112. 1 hit.
PfamPF09514. SSXRD. 1 hit.
[Graphical view]
SMARTSM00349. KRAB. 1 hit.
[Graphical view]
SUPFAMSSF109640. SSF109640. 1 hit.
PROSITEPS50806. KRAB_RELATED. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSSX1. human.
GeneWikiSSX1.
GenomeRNAi6756.
NextBio26356.
PROQ16384.
SOURCESearch...

Entry information

Entry nameSSX1_HUMAN
AccessionPrimary (citable) accession number: Q16384
Secondary accession number(s): A3KN76, Q08AJ2, Q5JQ64
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 15, 1998
Last modified: April 16, 2014
This is version 115 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM