Reviewed,
UniProtKB/Swiss-Prot Q16384 (SSX1_HUMAN)
Last modified
June 16, 2009.
Version 72.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Protein SSX1 Alternative name(s): Synovial sarcoma, X breakpoint 1 Cancer/testis antigen 5.1 Short name=CT5.1 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 188 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein 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. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Coding sequence diversity | Chromosomal rearrangement |
| Disease | Proto-oncogene |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Biological process | regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | nucleus Traceable author statement. Source: ProtInc |
| Molecular function | nucleic acid binding Inferred from electronic annotation. Source: InterPro transcription corepressor activityTraceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 188 | 188 | Protein SSX1 | PRO_0000181828 | |||||
Regions | |||||||||
| Domain | 20 – 83 | 64 | KRAB-related | ||||||
Sites | |||||||||
| Site | 62 – 63 | 2 | Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare) | ||||||
| Site | 110 – 111 | 2 | Breakpoint for translocation to form the SSXT-SSX1 fusion protein | ||||||
Amino acid modifications | |||||||||
| Modified residue | 181 | 1 | Phosphoserine Ref.5 | ||||||
Sequences
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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: 7539744] [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. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [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: 15489334] [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: 7655467] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 111-188. Tissue: Synovial sarcoma. |
| [5] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-181, MASS SPECTROMETRY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| 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. | |
| IPI | IPI00001519. |
| PIR | S55057. |
| RefSeq | NP_005626.1. |
| UniGene | Hs.434142 Hs.694472 Hs.713144 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | Q16384. |
Proteomic databases | |
| PRIDE | Q16384. |
Genome annotation databases | |
| Ensembl | ENSG00000126752. Homo sapiens. [Contig view] |
| GeneID | 6756. |
| KEGG | hsa:6756. |
Organism-specific databases | |
| GeneCards | GC0XP047958. |
| H-InvDB | HIX0016770. |
| HGNC | HGNC:11335. SSX1. |
| MIM | 312820. gene+phenotype. |
| Orphanet | 3273. Synovialosarcoma. |
| PharmGKB | PA36159. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | Q16384. |
| HOVERGEN | Q16384. |
| OMA | Q16384. RRIQVEH. |
Gene expression databases | |
| Bgee | Q16384. |
| CleanEx | HS_SSX1. |
| GermOnline | ENSG00000126752. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR001909. Krueppel-associated_box. IPR003655. Krueppel-associated_box-rel. IPR019041. SSXRD_motif. [Graphical view] |
| Pfam | PF01352. KRAB. 1 hit. PF09514. SSXRD. 1 hit. [Graphical view] |
| SMART | SM00349. KRAB. 1 hit. [Graphical view] |
| PROSITE | PS50806. KRAB_RELATED. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 26356. |
| SOURCE | Search... |
Entry information
| Entry name | SSX1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q16384 Secondary accession number(s): A3KN76, Q08AJ2, Q5JQ64 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


