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    SSX5 SSX family member 5 [ Homo sapiens (human) ]

    Gene ID: 6758, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SSX5provided by HGNC
    Official Full Name
    SSX family member 5provided by HGNC
    Primary source
    HGNC:HGNC:11339
    See related
    Ensembl:ENSG00000165583 MIM:300327; AllianceGenome:HGNC:11339
    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
    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. While some of the related SSX genes are involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas, this gene does not appear to be involved in such translocations. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2013]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See SSX5 in Genome Data Viewer
    Location:
    Xp11.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48186220..48196795, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47596378..47606957, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48045656..48056231, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SSX family member 13, pseudogene Neighboring gene S100A11 pseudogene 5 Neighboring gene ornithine aminotransferase pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 503

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Detection of the SYT-SSX fusion transcripts in formaldehyde-fixed, paraffin-embedded tissue: a reverse transcription polymerase chain reaction amplification assay useful in the diagnosis of synovial sarcoma. Lasota J, et al. Mod Pathol, 1998 Jul. PMID 9688183
    2. SSX cancer testis antigens are expressed in most multiple myeloma patients: co-expression of SSX1, 2, 4, and 5 correlates with adverse prognosis and high frequencies of SSX-positive PCs. Taylor BJ, et al. J Immunother, 2005 Nov-Dec. PMID 16224274
    3. Expression and immunotherapeutic targeting of the SSX family of cancer-testis antigens in prostate cancer. Smith HA, et al. Cancer Res, 2011 Nov 1. PMID 21880588
    4. Expression of cancer-testis antigen (CTA) in tumor tissues and peripheral blood of Chinese patients with hepatocellular carcinoma. Wu LQ, et al. Life Sci, 2006 Jul 17. PMID 16546222
    5. Cancer-testis antigens are commonly expressed in multiple myeloma and induce systemic immunity following allogeneic stem cell transplantation. Atanackovic D, et al. Blood, 2007 Feb 1. PMID 17023585

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC9494

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein SSX5
    Names
    synovial sarcoma, X breakpoint 5

    NCBI Reference Sequences (RefSeq)

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    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_012529.1 RefSeqGene

      Range
      4969..15544
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_021015.4 → NP_066295.3  protein SSX5 isoform a

      See identical proteins and their annotated locations for NP_066295.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC245047, BC016640, BE896093
      Consensus CDS
      CCDS14288.1
      UniProtKB/Swiss-Prot
      O60225
      Related
      ENSP00000312415.1, ENST00000311798.5
      Conserved Domains (3) summary
      cd07765
      Location:65 → 102
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      smart00349
      Location:65 → 123
      KRAB; krueppel associated box
      pfam09514
      Location:197 → 228
      SSXRD; SSXRD motif

    2. NM_175723.2 → NP_783729.1  protein SSX5 isoform b

      See identical proteins and their annotated locations for NP_783729.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AC245047, BC016640, BE896093, U90842
      Consensus CDS
      CCDS14289.1
      UniProtKB/Swiss-Prot
      O60225, Q5JQ59, Q5JQ60, Q96AW3
      Related
      ENSP00000290558.1, ENST00000347757.6
      Conserved Domains (3) summary
      cd07765
      Location:24 → 61
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      smart00349
      Location:23 → 82
      KRAB; krueppel associated box
      pfam09514
      Location:156 → 187
      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
      48186220..48196795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543949.3 → XP_011542251.1  protein SSX5 isoform X1

      See identical proteins and their annotated locations for XP_011542251.1

      UniProtKB/Swiss-Prot
      O60225, Q5JQ59, Q5JQ60, Q96AW3
      Conserved Domains (3) summary
      cd07765
      Location:24 → 61
      KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
      smart00349
      Location:23 → 82
      KRAB; krueppel associated box
      pfam09514
      Location:156 → 187
      SSXRD; SSXRD motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      47596378..47606957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327624.1 → XP_054183599.1  protein SSX5 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60225.3 GenPept UniProtKB/Swiss-Prot:O60225

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