Gene Symbol: POC1A
Description: POC1 centriolar protein A
Alias: PIX2, SOFT, WDR51A, POC1 centriolar protein homolog A, WD repeat domain 51A, WD repeat-containing protein 51A, proteome of centriole protein 1A
Hames R, Hames R, Prosser S, Euteneuer U, Lopes C, Moore W, et al
. Pix1 and Pix2 are novel WD40 microtubule-associated proteins that colocalize with mitochondria in Xenopus germ plasm and centrosomes in human cells. Exp Cell Res. 2008;314:574-89 pubmed
..In humans, two proteins, Pix1 and Pix2, are expressed at varying levels in different cancer cell lines...
Keller L, Geimer S, Romijn E, Yates J, Zamora I, Marshall W. Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control. Mol Biol Cell. 2009;20:1150-66 pubmed publisher
..Together, these data suggest that POC1 is involved in early steps of centriole duplication as well as in the later steps of centriole length control. ..
Rzehak P, Covic M, Saffery R, Reischl E, Wahl S, Grote V, et al
. DNA-Methylation and Body Composition in Preschool Children: Epigenome-Wide-Analysis in the European Childhood Obesity Project (CHOP)-Study. Sci Rep. 2017;7:14349 pubmed publisher
..Probes in genes SNED1(IRE-BP1), KLHL6, WDR51A(POC1A), CYTH4-ELFN2, CFLAR, PRDM14, SOS1, ZNF643(ZFP69B), ST6GAL1, C3orf70, CILP2, MLLT4 and ncRNA LOC101929268 ..
Pearson C, Osborn D, Giddings T, Beales P, Winey M. Basal body stability and ciliogenesis requires the conserved component Poc1. J Cell Biol. 2009;187:905-20 pubmed publisher
..A second dynamic population assembles throughout the cell cycle. Our experiments identify novel roles for Poc1 in centriole stability and ciliogenesis. ..
Shaheen R, Faqeih E, Shamseldin H, Noche R, Sunker A, Alshammari M, et al
. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012;91:330-6 pubmed publisher
..In three families affected by a distinct form of PD, we identified a founder truncating mutation in POC1A. This gene is one of two vertebrate paralogs of POC1, which encodes one of the most abundant proteins in the ..
Venoux M, Tait X, Hames R, Straatman K, Woodland H, Fry A. Poc1A and Poc1B act together in human cells to ensure centriole integrity. J Cell Sci. 2013;126:163-75 pubmed publisher
..isoform-specific antibodies and RNAi depletion, we have examined the function of the two related human proteins, Poc1A and Poc1B...
Chen J, Segni M, Payne F, Huang Doran I, Sleigh A, Adams C, et al
. Truncation of POC1A associated with short stature and extreme insulin resistance. J Mol Endocrinol. 2015;55:147-58 pubmed publisher
..extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three protein products of the gene...
Koparir A, Karatas O, Yuceturk B, Yuksel B, Bayrak A, Gerdan O, et al
. Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. Hum Mol Genet. 2015;24:5378-87 pubmed publisher
b>POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome...
Sarig O, Nahum S, Rapaport D, Ishida Yamamoto A, Fuchs Telem D, Qiaoli L, et al
. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet. 2012;91:337-42 pubmed publisher
..512T>C [p.Leu171Pro]) in POC1A (centriolar protein homolog A). This mutation was found to cosegregate with the disease phenotype in two families...