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    CT55 cancer/testis antigen 55 [ Homo sapiens (human) ]

    Gene ID: 54967, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CT55provided by HGNC
    Official Full Name
    cancer/testis antigen 55provided by HGNC
    Primary source
    HGNC:HGNC:26047
    See related
    Ensembl:ENSG00000169551 MIM:301105; AllianceGenome:HGNC:26047
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPGFX7; CXorf48; BJHCC20A
    Summary
    Involved in spermatogenesis. Located in acrosomal vesicle and sperm flagellum. Implicated in X-linked spermatogenic failure 7. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 1.5) See more
    Orthologs
    all
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    Genomic context

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    See CT55 in Genome Data Viewer
    Location:
    Xq26.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (135156536..135171827, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (133482335..133497625, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (134290461..134305751, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene SMIM10L2B antisense RNA 1 Neighboring gene zinc finger protein 449 pseudogene Neighboring gene uncharacterized LOC124905295 Neighboring gene cancer/testis antigen 55 pseudogene Neighboring gene cancer/testis antigen 55 pseudogene Neighboring gene uncharacterized LOC124905298

    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
    • 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. Cancer/Testis Antigen 55 is required for cancer cell proliferation and mitochondrial DNA maintenance. Aurrière J, et al. Mitochondrion, 2022 May. PMID 35189384, Free PMC Article
    2. CXorf48 is a potential therapeutic target for achieving treatment-free remission in CML patients. Matsushita M, et al. Blood Cancer J, 2017 Sep 1. PMID 28862699, Free PMC Article
    3. Deficiency of cancer/testis antigen gene CT55 causes male infertility in humans and mice. Zhang G, et al. Cell Death Differ, 2023 Feb. PMID 36481789, Free PMC Article
    4. Novel BRCA2-interacting protein BJ-HCC-20A inhibits the induction of apoptosis in response to DNA damage. Tomiyoshi G, et al. Cancer Sci, 2008 Apr. PMID 18307534, Free PMC Article
    5. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deficiency of cancer/testis antigen gene CT55 causes male infertility in humans and mice.
      Title: Deficiency of cancer/testis antigen gene CT55 causes male infertility in humans and mice.
    2. the relapse rate of CXorf48-specific CTL-negative patients was 63.6%, compared to 0% in CXorf48-specific CTL-positive patients. These results indicate that CXorf48 could be a promising therapeutic target of LSCs for immunotherapy to obtain durable treatment-free remission in CML patients.
      Title: CXorf48 is a potential therapeutic target for achieving treatment-free remission in CML patients.
    3. A novel BRCA2-interacting protein, BJ-HCC-20A, which is reported to be a potential cancer-testis antigen, was identified.
      Title: Novel BRCA2-interacting protein BJ-HCC-20A inhibits the induction of apoptosis in response to DNA damage.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spermatogenic failure, X-linked, 7
    MedGen: C5829567 OMIM: 301106 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20527

    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 spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cancer/testis antigen 55
    Names
    BRCA2-interacting protein
    tumor antigen BJ-HCC-20

    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.

    mRNA and Protein(s)

    1. NM_001031705.3 → NP_001026875.1  cancer/testis antigen 55 isoform 1

      See identical proteins and their annotated locations for NP_001026875.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer isoform (1).
      Source sequence(s)
      AF520814, AY352211
      Consensus CDS
      CCDS35400.1
      UniProtKB/Swiss-Prot
      Q8WUE5, Q9NWY8
      Related
      ENSP00000276241.6, ENST00000276241.11
      Conserved Domains (1) summary
      pfam14444
      Location:182 → 233
      S1-like; S1-like

    2. NM_017863.2 → NP_060333.1  cancer/testis antigen 55 isoform 2

      See identical proteins and their annotated locations for NP_060333.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the C-terminus compared to isoform 1.
      Source sequence(s)
      AY352211
      Consensus CDS
      CCDS14647.1
      UniProtKB/Swiss-Prot
      Q8WUE5
      Related
      ENSP00000343893.2, ENST00000344129.2
      Conserved Domains (1) summary
      pfam14444
      Location:182 → 233
      S1-like; S1-like

    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
      135156536..135171827 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      133482335..133497625 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WUE5.1 GenPept UniProtKB/Swiss-Prot:Q8WUE5

    Gene LinkOut

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