Nuclear Protein, Ataxia-Telangiectasia Locus

Alternative Names

  • NPAT
  • E14 Gene
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OMIM Number

601448

Gene Map Locus
11q22.3

Description

The NPAT gene encodes a protein required for the G1/S transition of the mitotic cell cycle. This protein acts as a cyclin E-CDK2 phosphorylation substrate and its effects on cell-cycle progression are enhanced by the co-expression of cyclin E and CDK2. NPAT can function as a transcription coactivator as well as a corepressor, and is responsible for activating the transcription of the histone H2A, histone H2B, histone H3 and histone H4 genes. It is required for regulating the promoters of the ATM, MIZF and PRKDC genes. It is believed that NPAT carries out its transcriptional activity in part by recruiting the NuA4 histone acetyltransferase (HAT) complex to target gene promoters.

Molecular Genetics

The NPAT gene is located on the long arm of chromosome 11. It spans a length of 65.4 kb of DNA and its coding sequence is spread across 20 exons. The gene encodes a 154 kDa protein product composed of 1427 amino acids. While NPAT is ubiquitously expressed in the human body, overexpression is seen in the lung, pancreas and peripheral blood mononuclear cells.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Monies et al. (2017) discussed the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, an 8-year-old female, presented with psychomotor retardation, seizure disorder and Angelman syndrome. Whole exome sequencing helped identify a heterozygous mutation (c.3644C>T, p.S1215L) in exon 17 of the patient’s NPAT gene. This gene mutation was considered a candidate for pathogenicity due to several reasons: it was a novel variant predicted to be deleterious, the NPAT gene had a low %HI score in DECIPHER and it encoded a protein involved in chromatin remodeling, a mechanism commonly affected in neurodevelopmental disorders. The authors noted that further studies are required to confirm this association.  

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