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SSX4 SSX family member 4 [ Homo sapiens (human) ]

Gene ID: 6759, updated on 19-Sep-2024

Summary

Official Symbol
SSX4provided by HGNC
Official Full Name
SSX family member 4provided by HGNC
Primary source
HGNC:HGNC:11338
See related
Ensembl:ENSG00000268009 MIM:300326; AllianceGenome:HGNC:11338
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
CT5.4
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 spontaneously humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. SSX1, SSX2 and SSX4 genes have been involved in the t(X;18) translocation 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. Chromosome Xp11 contains a segmental duplication resulting in two identical copies of synovial sarcoma, X breakpoint 4, SSX4 and SSX4B, in tail-to-tail orientation. This gene, SSX4, represents the more telomeric copy. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward testis (RPKM 3.3) See more
Orthologs
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Genomic context

See SSX4 in Genome Data Viewer
Location:
Xp11.23
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (48383539..48393347)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (47792507..47802319)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (48242980..48252789)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ornithine aminotransferase pseudogene Neighboring gene ornithine aminotransferase, mitochondrial-like Neighboring gene SSX family member 4B Neighboring gene ornithine aminotransferase pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

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

  • MGC12411, MGC119056

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

Preferred Names
protein SSX4
Names
cancer/testis antigen 5.4
synovial sarcoma, X breakpoint 4

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.

mRNA and Protein(s)

  1. NM_005636.4NP_005627.1  protein SSX4 isoform a

    See identical proteins and their annotated locations for NP_005627.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL606490
    Consensus CDS
    CCDS35240.1
    UniProtKB/Swiss-Prot
    A8MYD4, B2RPE3, O60224, Q3SYD4, Q5JQZ0, Q9UJU9
    Related
    ENSP00000469011.1, ENST00000595689.3
    Conserved Domains (2) summary
    smart00349
    Location:2382
    KRAB; krueppel associated box
    pfam09514
    Location:156187
    SSXRD; SSXRD motif
  2. NM_175729.2NP_783856.1  protein SSX4 isoform b

    See identical proteins and their annotated locations for NP_783856.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the coding region which leads to a frameshift, compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AL606490
    Consensus CDS
    CCDS43934.1
    UniProtKB/Swiss-Prot
    O60224
    Related
    ENSP00000483262.1, ENST00000620320.4
    Conserved Domains (2) summary
    cd07765
    Location:2461
    KRAB_A-box; KRAB (Kruppel-associated box) domain -A box
    smart00349
    Location:2382
    KRAB; krueppel associated box

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
    48383539..48393347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029759.2XP_016885248.1  protein SSX4 isoform X1

    UniProtKB/Swiss-Prot
    A8MYD4, B2RPE3, O60224, Q3SYD4, Q5JQZ0, Q9UJU9
    Conserved Domains (2) summary
    smart00349
    Location:2382
    KRAB; krueppel associated box
    pfam09514
    Location:156187
    SSXRD; SSXRD motif

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    47792507..47802319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054327625.1XP_054183600.1  protein SSX4 isoform X1

    UniProtKB/Swiss-Prot
    A8MYD4, B2RPE3, O60224, Q3SYD4, Q5JQZ0, Q9UJU9