CENPS

Chr 1

centromere protein S

Also known as: APITD1, CENP-S, FAAP16, MHF1

NCBI Gene: 378708 ENSG00000175279 UniProt: Q8N2Z9

The protein is a DNA-binding component of the Fanconi anemia core complex required for DNA damage response and also functions as part of the kinetochore complex essential for proper chromosome segregation during cell division. Mutations cause Fanconi anemia, an autosomal recessive disorder characterized by bone marrow failure, developmental abnormalities, and increased cancer predisposition. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene was identified in the neuroblastoma tumor suppressor candidate region on chromosome 1p36. It contains a TFIID-31 domain, similar to that found in TATA box-binding protein-associated factor, TAF(II)31, which is required for p53-mediated transcription activation. This gene was expressed at very low levels in neuroblastoma tumors, and was shown to reduce cell growth in neuroblastoma cells, suggesting that it may have a role in a cell death pathway. The protein is a component of multiple complexes, including the Fanconi anemia (FA) core complex, the APITD1/CENPS complex, and the CENPA-CAD (nucleosome distal) complex. Known functions include an involvement with chromatin associations of the FA core complex, and a role in the stable assembly of the outer kinetochore. Alternative splicing of this gene results in multiple transcript variants. Naturally occurring read-through transcripts also exist between this gene and the downstream cortistatin (CORT) gene, as represented in GeneID:100526739. An APITD1-related pseudogene has been identified on chromosome 7. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.71

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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