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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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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

Gene LinkOut

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