• Gene id: 6756

Gene Summary

• Gene Symbol: SSX1   Gene   UCSC   Ensembl
• Aliases: CT5.1, SSRC
• Gene name: SSX family member 1
• Alternate names: protein SSX1, cancer/testis antigen 5.1, cancer/testis antigen family 5, member 1, sarcoma, synovial, X-chromosome-related 1, synovial sarcoma, X breakpoint 1,
• Gene location: Xp11.23 (48255391: 48267443)     Exons: 9     NC_000023.11
• Gene summary(Entrez): The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune respons
• OMIM: 312820

Protein Summary

• Protein general information: Q16384  
  • Name: Protein SSX1 (Cancer/testis antigen 5.1) (CT5.1) (Synovial sarcoma, X breakpoint 1)
  • Length: 188  
  • Mass: 21931
  • 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 detecte
• Sequence:

  MNGDDTFAKRPRDDAKASEKRSKAFDDIATYFSKKEWKKMKYSEKISYVYMKRNYKAMTKLGFKVTLPPFMCNKQ
  ATDFQGNDFDNDHNRRIQVEHPQMTFGRLHRIIPKIMPKKPAEDENDSKGVSEASGPQNDGKQLHPPGKANISEK
  INKRSGPKRGKHAWTHRLRERKQLVIYEEISDPEEDDE

• Structural information:
  • Protein Domains: (20..8-)
    (/note="KRAB-related-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00120"-)
  • Interpro: IPR001909  IPR036051  IPR003655  IPR028804  IPR019041  
  • Prosite: PS50806
  • STRING: ENSP00000366118
• Other Databases: GeneCards:  SSX1  Malacards:  SSX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IMP	molecular function
GO:1903507	negative regulation of nucleic acid-templated transcription	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Synovial sarcoma	KEGG:H00050
Synovial sarcoma	KEGG:H00050
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray