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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SSX1
SSX family member 1
Chromosome X Β· Xp11.23
NCBI Gene: 6756Ensembl: ENSG00000126752.8HGNC: HGNC:11335UniProt: Q16384
53PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transcription corepressor activityprotein bindingnegative regulation of transcription by RNA polymerase IInucleussynovial sarcomaspermatogenic failure, X-linked, 5undifferentiated pleomorphic sarcomarhabdomyosarcoma
✦AI Summary

SSX1 is an X-linked gene encoding a transcriptional modulator involved in spermatogenesis 12. SSX1 functions primarily as a transcription corepressor and exhibits negative regulation of RNA polymerase II-mediated transcription. The gene is best characterized through its fusion with SS18, generating the SS18-SSX1 chimeric protein that drives synovial sarcoma development. SS18-SSX1 acts as a transcription-activating oncoprotein 3 that alters canonical BAF (cBAF) chrX remodeling complexes, promoting degradation of cBAF and expansion of non-canonical BAF (ncBAF) complexes 4. This chrX remodeling dysregulation creates an SS18-SSX1-specific transcriptome driving tumorigenesis 5. Downstream targets include SHCBP1, whose overexpression promotes cell proliferation through MAPK/ERK and PI3K/AKT/mTOR pathway activation 6. Beyond synovial sarcoma, SSX1 fusions with non-canonical partners (EWSR1, MN1, SS18L1) have been identified in rare synovial sarcomas with diagnostic implications 7. Clinically, SSX1-containing fusions represent the primary diagnostic marker for synovial sarcoma 8. Loss-of-function SSX1 mutations cause spermatogenic failure, X-linked, 5, highlighting the gene's essential role in male fertility. Therapeutic targeting of SUMOylation stabilizes cBAF complexes and disrupts SS18-SSX1-driven transcription, offering a novel treatment approach 4.

Sources cited
1
SSX1 acts as a modulator of transcription
PMID: 7539744
2
SSX1 plays a role in spermatogenesis
PMID: 36796361
3
SS18-SSX1 modulates SWI/SNF pathway and drives synovial sarcoma development; miR-214 cooperates as an oncomiR
PMID: 32019274
4
SHCBP1 is a downstream target of SS18-SSX1 promoting cell proliferation via MAPK/ERK and PI3K/AKT/mTOR pathways
PMID: 27572315
5
Novel SSX1 fusions (EWSR1-SSX1, MN1-SSX1, SS18L1-SSX1) identified in synovial sarcoma with diagnostic implications
PMID: 34504309
6
SS18-SSX fusion encodes a chimeric transcription-activating protein driving synovial sarcoma
PMID: 28134577
7
SS18-SSX alters cBAF and ncBAF complexes; SUMOylation inhibition restores cBAF and disrupts SS18-SSX transcriptome
PMID: 41193430
8
SS18-SSX1 fusion gene detection via RT-PCR confirms synovial sarcoma diagnosis
PMID: 15879502
Disease Associationsβ“˜21
synovial sarcomaOpen Targets
0.46Moderate
spermatogenic failure, X-linked, 5Open Targets
0.45Moderate
undifferentiated pleomorphic sarcomaOpen Targets
0.37Weak
rhabdomyosarcomaOpen Targets
0.37Weak
leiomyosarcomaOpen Targets
0.37Weak
malignant peripheral nerve sheath tumorOpen Targets
0.37Weak
biphasic synovial sarcomaOpen Targets
0.37Weak
chordomaOpen Targets
0.37Weak
epithelioid sarcomaOpen Targets
0.37Weak
Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal TumorOpen Targets
0.37Weak
liposarcomaOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
monophasic synovial sarcomaOpen Targets
0.37Weak
neurofibromaOpen Targets
0.37Weak
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
Pleural Sarcomatoid MesotheliomaOpen Targets
0.37Weak
pleural solitary fibrous tumorOpen Targets
0.37Weak
plexiform neurofibromaOpen Targets
0.37Weak
Thyroid Gland Spindle Cell Tumor with Thymus-Like DifferentiationOpen Targets
0.37Weak
neoplasmOpen Targets
0.29Weak
Spermatogenic failure, X-linked, 5UniProt
Pathogenic Variants3
NM_005635.4(SSX1):c.330+1G>APathogenic
Synovial sarcoma|Ovarian serous cystadenocarcinoma
β˜…β˜†β˜†β˜†2025
NM_005635.4(SSX1):c.185_186del (p.Gly62fs)Pathogenic
Spermatogenic failure, X-linked, 5
β˜†β˜†β˜†β˜†2023β†’ Residue 62
NM_005635.4(SSX1):c.164A>G (p.Tyr55Cys)Pathogenic
Spermatogenic failure, X-linked, 5
β˜†β˜†β˜†β˜†2023β†’ Residue 55
View on ClinVar β†—
Related Genes
SPMIP7Shared pathway100%CBY3Shared pathway100%ARRDC5Shared pathway100%C3orf62Shared pathway100%TXNDC8Shared pathway100%TDRPShared pathway100%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Ovary
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SSX1SPMIP7CBY3ARRDC5C3orf62TXNDC8TDRP
PROTEIN STRUCTURE
Preparing viewer…
PDB8HR1 Β· 3.02 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
4.93LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF3.96 [3.21–4.93]
RankingsWhere SSX1 stands among ~20K protein-coding genes
  • #8,500of 20,598
    Most Researched53
  • #4,053of 5,498
    Most Pathogenic Variants3
  • #17,879of 17,882
    Most Constrained (LOEUF)4.93
Genes detectedSSX1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Cooperation between SS18-SSX1 and miR-214 in Synovial Sarcoma Development and Progression.
PMID: 32019274
Cancers (Basel) Β· 2020
1.00
2
Identification of SHCBP1 as a novel downstream target gene of SS18-SSX1 and its functional analysis in progression of synovial sarcoma.
PMID: 27572315
Oncotarget Β· 2016
0.90
3
First cloned human immortalized adipose derived mesenchymal stem-cell line with chimeric SS18-SSX1 gene (SS-iASC).
PMID: 29025595
Cancer Genet Β· 2017
0.80
4
Identification of novel SSX1 fusions in synovial sarcoma.
PMID: 34504309
Mod Pathol Β· 2022
0.70
5
Detection of Rare Variant of SS18-SSX1 Fusion Gene and Mutations of Important Cancer-Related Genes in Synovial Sarcoma of the Lip: Gene Analyses of a Case and Literature Review.
PMID: 25959879
J Oral Maxillofac Surg Β· 2015
0.60