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WRAP53

Chr 17p13.1

WD repeat containing antisense to TP53

Aliases:
FLJ10385, TCAB1
MANE:
ENST00000396463.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult solid tumours cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood solid tumours

    BIALLELIC, autosomal or pseudoautosomal
  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Cytopenia - NOT Fanconi anaemia

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Haematological malignancies cancer susceptibility

    BIALLELIC, autosomal or pseudoautosomal
  • Haematological malignancies for rare disease

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • dyskeratosis congenita

    0.78
  • neurodegenerative disease

    0.55
  • hereditary neoplastic syndrome

    0.47
  • Inherited cancer-predisposing syndrome

    0.47
  • acute myeloid leukemia with minimal differentiation

    0.46
  • Alzheimer disease

    0.45
  • Parkinson disease

    0.44
  • multiple sclerosis

    0.44
  • lysosomal storage disease

    0.44
  • inherited bone marrow failure syndrome

    0.42

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Telomerase Cajal body protein 1

RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (PubMed:29695869, PubMed:29804836). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC) (PubMed:19285445, PubMed:20351177, PubMed:29695869, PubMed:29804836). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes (PubMed:19179534, PubMed:20351177, PubMed:26170453, PubMed:29695869). In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex (PubMed:27525486, PubMed:29804836). Acts by specifically binding the CAB box of the TERC RNA and controlling the folding of the CR4/CR5 region of the TERC RNA, a critical step for telomerase activity (PubMed:29804836). In addition, also controls telomerase holoenzyme complex localization to Cajal body (PubMed:22547674). During S phase, required for delivery of TERC to telomeres during S phase and for telomerase activity (PubMed:29804836). In addition to its role in telomere maintenance, also required for Cajal body formation, probably by mediating localization of scaRNAs to Cajal bodies (PubMed:19285445, PubMed:21072240). Also plays a role in DNA repair: phosphorylated by ATM in response to DNA damage and relocalizes to sites of DNA double-strand breaks to promote the repair of DNA double-strand breaks (PubMed:25512560, PubMed:27715493). Acts by recruiting the ubiquitin ligase RNF8 to DNA breaks and promote both homologous recombination (HR) and non-homologous end joining (NHEJ) (PubMed:25512560, PubMed:27715493)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.