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    SSX1 SSX family member 1 [ Homo sapiens (human) ]

    Gene ID: 6756, updated on 27-Nov-2024

    Summary

    Official Symbol
    SSX1provided by HGNC
    Official Full Name
    SSX family member 1provided by HGNC
    Primary source
    HGNC:HGNC:11335
    See related
    Ensembl:ENSG00000126752 MIM:312820; AllianceGenome:HGNC:11335
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SSRC; CT5.1; SPGFX5
    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 responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX2 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2013]
    Expression
    Restricted expression toward testis (RPKM 3.9) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SSX1 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48255392..48267444)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47664400..47676453)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48114827..48126879)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene S100A11 pseudogene 7 Neighboring gene ornithine aminotransferase pseudogene Neighboring gene S100A11 pseudogene 6 Neighboring gene SSX family member 18, pseudogene Neighboring gene SSX family pseudogene 8

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC5162, MGC150425

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription corepressor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sperm flagellum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    protein SSX1
    Names
    cancer/testis antigen 5.1
    cancer/testis antigen family 5, member 1
    sarcoma, synovial, X-chromosome-related 1
    synovial sarcoma, X breakpoint 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012528.2 RefSeqGene

      Range
      5031..17083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278691.2NP_001265620.1  protein SSX1

      See identical proteins and their annotated locations for NP_001265620.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC245047, BC150487, BE777476, BF211314, BQ774004
      Consensus CDS
      CCDS14290.1
      UniProtKB/Swiss-Prot
      A3KN76, A6NJM6, Q08AJ2, Q16384, Q5JQ64, Q7RTT4
      Conserved Domains (2) summary
      smart00349
      Location:2382
      KRAB; krueppel associated box
      pfam09514
      Location:156187
      SSXRD; SSXRD motif
    2. NM_005635.4NP_005626.1  protein SSX1

      See identical proteins and their annotated locations for NP_005626.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC150487, BQ774004
      Consensus CDS
      CCDS14290.1
      UniProtKB/Swiss-Prot
      A3KN76, A6NJM6, Q08AJ2, Q16384, Q5JQ64, Q7RTT4
      Related
      ENSP00000366118.3, ENST00000376919.4
      Conserved Domains (2) summary
      smart00349
      Location:2382
      KRAB; krueppel associated box
      pfam09514
      Location:156187
      SSXRD; SSXRD motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      48255392..48267444
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      47664400..47676453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)