Centre for Arab Genomic Studies a Division of Sheikh Hamdan Award for Medical Sciences

Centre for Arab Genomic Studies A Division of Sheikh Hamdan Award for Medical Sciences

The Catalogue for Transmission Genetics in Arabs CTGA Database

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

Alternative Names expressed in the human body, it is found to be PIP5K1A overexpressed in the heart, placenta, testis, skeletal muscle, kidney, pancreas, frontal cortex and Record Category plasma. Gene locus Epidemiology in the Arab World WHO-ICD Saudi Arabia N/A to gene loci Anazi et al. (2016) examined 337 Intellectual Disability (ID) patients and found the diagnostic Incidence per 100,000 Live Births yield of genomic tools to be higher than standard N/A to gene loci clinical evaluations (58% vs 16%). By using exome sequencing, the authors uncovered a homozygous OMIM Number c.1078C>T (p.Arg360*) mutation in the PIP5K1A 603275 gene of a 14 year old Saudi boy. It was considered pathogenic as the gene is enriched in the brain and Mode of Inheritance the mutation is a loss-of-function variant that N/A to gene loci segregates fully with the phenotype. The patient was born to first-degree consanguineous parents Gene Map Locus and suffered from global developmental delay, 1q21.3 short stature, GH deficiency, hyperopia, chronic diarrhea and brain abnormalities. He exhibited Description dysmorphic features such as a prominent forehead, The PIP5K1A gene encodes a Phosphatidylinositol straight eyebrows, synophrys, deeply set eyes, 4-phosphate 5-kinase that carries out the upslanted palpebral fissures, overbite, smooth upper phosphorylation of phosphatidylinositol 4- lip, everted lower lip and widely spaced hypoplastic phosphate to create phosphatidylinositol 4,5- nipples. bisphosphate. The enzyme localizes at nuclear speckles and forms a complex with TUT1, a References poly(A) polymerase. This complex controls the Anazi S, Maddirevula S, Faqeih E, Alsedairy H, expression of certain mRNAs such as Alzahrani F, Shamseldin HE, Patel N, Hashem M, cytoprotective enzymes and oxidative stress Ibrahim N, Abdulwahab F, Ewida N, Alsaif HS, Al response genes. By carrying out its kinase activity, Sharif H, Alamoudi W, Kentab A, Bashiri FA, the PIP5K1A protein is also involved in several key Alnaser M, AlWadei AH, Alfadhel M, Eyaid W, biological processes such as phospholipid Hashem A, Al Asmari A, Saleh MM, AlSaman A, biosynthesis, actin cytoskeleton reorganization, cell Alhasan KA, Alsughayir M, Al Shammari M, chemotaxis and migration, signal transduction, Mahmoud A, Al-Hassnan ZN, Al-Husain M, phagocytosis and keratinocyte differentiation. Osama Khalil R, Abd El Meguid N, Masri A, Ali R, Ben-Omran T, El Fishway P, Hashish A, Ercan Molecular Genetics Sencicek A, State M, Alazami AM, Salih MA, The PIP5K1A gene is located on the long arm of Altassan N, Arold ST, Abouelhoda M, Wakil SM, chromosome 1 at position 1q21.3. The gene spans a Monies D, Shaheen R, Alkuraya FS. Clinical length of 51.5 kb of DNA and its coding sequence genomics expands the morbid genome of is contained in 20 exons. The protein product intellectual disability and offers a high diagnostic encoded by this gene has a molecular mass of 62.6 yield. Mol Psychiatry. 2016 Jul 19. PMID: kDa and is made up of 562 amino acids. Multiple 27431290. isoforms of the PIP5K1A protein exist due to alternative splicing. While the gene is widely Related CTGA Records

External Links Contributors http://www.genecards.org/cgi- Sayeeda Hana bin/carddisp.pl?gene=PIP5K1A 21.01.2017