SSX1 (SSX family member 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6756
Gene name SSX family member 1
Gene symbol SSX1
Synonyms (NCBI Gene)
CT5.1SPGFX5SSRC
Chromosome X
Chromosome location Xp11.23
Summary 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
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT025895 hsa-miR-7-5p Microarray 17612493
MIRT1392930 hsa-miR-134 CLIP-seq
MIRT1392931 hsa-miR-223 CLIP-seq
MIRT1392932 hsa-miR-3118 CLIP-seq
MIRT1392933 hsa-miR-3136-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 10072425
GO:0003714 Function Transcription corepressor activity IMP 10072425
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 10072425
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
312820 11335 ENSG00000126752
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16384
Protein name Protein SSX1 (Cancer/testis antigen 5.1) (CT5.1) (Synovial sarcoma, X breakpoint 1)
Protein function Could act as a modulator of transcription (PubMed:7539744). Plays a role in spermatogenesis (PubMed:36796361).
PDB 8HR1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01352 KRAB 22 → 62 KRAB box Family
PF09514 SSXRD 157 → 187 SSXRD motif Motif
Tissue specificity 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 
MNGDDTFAKRPRDDAKASEKRSKAFDDIATYFSKKEWKKMKYSEKISYVYMKRNYKAMTK
LGFKVTLPPFMCNKQATDFQGNDFDNDHNRRIQVEHPQMTFGRLHRIIPKIMPKKPAEDE
NDSKGVSEASGPQNDGKQLHPPGKANISEKINKRSGPKRGKHAWTHRLRERKQLVIYEEI
SDPEEDDE
Sequence length 188
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Transcriptional misregulation in cancer  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Spermatogenic failure, X-linked, 5 Pathogenic rs2059592140, rs781822167 RCV003153260
RCV003153261
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs202098049 RCV005926919
Malignant tumor of esophagus Likely benign rs137896828 RCV005933177
Melanoma Likely benign rs137896828 RCV005933178
SSX1-related disorder Conflicting classifications of pathogenicity; Likely benign rs191372051, rs199717766, rs374281371, rs201360957, rs148967170, rs137896828 RCV003906663
RCV003966438
RCV003979722
RCV003952049
RCV003927069
RCV003937027
Show/Hide Text Mining Associations (17)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinogenesis Associate 20576167
Carcinoma Hepatocellular Associate 15237429, 17186289
Carcinoma Squamous Cell Associate 34177903
Colorectal Neoplasms Associate 15756003
Colorectal Neoplasms Stimulate 37241221
Inflammation Associate 23020131
Melanoma Associate 17186289, 23020131
Multiple Myeloma Associate 17023585, 17186289, 18237105, 20108890
Neoplasm Metastasis Associate 19385976
Neoplasms Associate 10879732, 15641030, 16929165, 17186289, 18296877, 19385976, 20731022, 23138873, 24798046, 34504309, 34895269, 9428816, 9846971