Phosphatidylinositol 4-Phosphate 5-Kinase, Type I, Alpha

Alternative Names

  • PIP5K1A
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OMIM Number

603275

Gene Map Locus
1q21.3

Description

The PIP5K1A gene encodes a Phosphatidylinositol 4-phosphate 5-kinase that carries out the phosphorylation of phosphatidylinositol 4-phosphate to create phosphatidylinositol 4,5-bisphosphate. The enzyme localizes at nuclear speckles and forms a complex with TUT1, a poly(A) polymerase. This complex controls the expression of certain mRNAs such as cytoprotective enzymes and oxidative stress response genes. By carrying out its kinase activity, the PIP5K1A protein is also involved in several key biological processes such as phospholipid biosynthesis, actin cytoskeleton reorganization, cell chemotaxis and migration, signal transduction, phagocytosis and keratinocyte differentiation.  

Molecular Genetics

The PIP5K1A gene is located on the long arm of chromosome 1 at position 1q21.3. The gene spans a length of 51.5 kb of DNA and its coding sequence is contained in 20 exons. The protein product encoded by this gene has a molecular mass of 62.6 kDa and is made up of 562 amino acids. Multiple isoforms of the PIP5K1A protein exist due to alternative splicing. While the gene is widely expressed in the human body, it is found to be overexpressed in the heart, placenta, testis, skeletal muscle, kidney, pancreas, frontal cortex and plasma.  

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Anazi et al. (2016) examined 337 Intellectual Disability (ID) patients and found the diagnostic yield of genomic tools to be higher than standard clinical evaluations (58% vs 16%). By using exome sequencing, the authors uncovered a homozygous c.1078C>T (p.Arg360*) mutation in the PIP5K1A gene of a 14 year old Saudi boy. It was considered pathogenic as the gene is enriched in the brain and the mutation is a loss-of-function variant that segregates fully with the phenotype. The patient was born to first-degree consanguineous parents and suffered from global developmental delay, short stature, GH deficiency, hyperopia, chronic diarrhea and brain abnormalities. He exhibited dysmorphic features such as a prominent forehead, straight eyebrows, synophrys, deeply set eyes, upslanted palpebral fissures, overbite, smooth upper lip, everted lower lip and widely spaced hypoplastic nipples. 

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