Genomes and Genes
Gene Symbol: PACS1
Description: phosphofurin acidic cluster sorting protein 1
Alias: MRD17, SHMS, phosphofurin acidic cluster sorting protein 1, PACS-1, cytosolic sorting protein PACS-1
- Jenkins P, Zhang L, Thomas G, Martens J. PACS-1 mediates phosphorylation-dependent ciliary trafficking of the cyclic-nucleotide-gated channel in olfactory sensory neurons. J Neurosci. 2009;29:10541-51 pubmed publisher..These results provide a mechanism for the subunit-dependent ciliary trafficking of the CNG channel and offer insight into the mechanisms of ciliary transport...
- Hung C, Thomas L, Ruby C, Atkins K, Morris N, Knight Z, et al. HIV-1 Nef assembles a Src family kinase-ZAP-70/Syk-PI3K cascade to downregulate cell-surface MHC-I. Cell Host Microbe. 2007;1:121-33 pubmed..The discovery of this Nef-SFK-ZAP-70/Syk-PI3K signaling pathway explains the hierarchal role of the Nef motifs in effecting immunoevasion. ..
- Köttgen M, Benzing T, Simmen T, Tauber R, Buchholz B, Feliciangeli S, et al. Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. EMBO J. 2005;24:705-16 pubmed..Furthermore, PACS proteins may represent a novel molecular mechanism for ion channel trafficking, directing acidic cluster-containing ion channels to distinct subcellular compartments. ..
- Sachan V, Lodge R, Mihara K, Hamelin J, Power C, Gelman B, et al. HIV-induced neuroinflammation: impact of PAR1 and PAR2 processing by Furin. Cell Death Differ. 2019;: pubmed publisher..proteins, likely due to the intermediary trafficking role of phospho-Furin acidic cluster sorting protein 1 (PACS1)...
- van der Donk R, Jansen S, Schuurs Hoeijmakers J, Koolen D, Goltstein L, Hoischen A, et al. Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders. Genet Med. 2018;: pubmed publisher..Facial features were extracted from photos of ID patients harboring a pathogenic variant in three novel ID genes (PACS1, PPM1D, and PHIP) using algorithms that model human facial dysmorphism, and facial recognition...
- Brasacchio D, Busuttil R, Noori T, Johnstone R, Boussioutas A, Trapani J. Down-regulation of a pro-apoptotic pathway regulated by PCAF/ADA3 in early stage gastric cancer. Cell Death Dis. 2018;9:442 pubmed publisher..pathway to apoptosis via epigenetic regulation of phosphofurin acidic cluster sorting proteins 1 and 2 (PACS1, PACS2), we analyzed PCAF, ADA3, and PACS1/2 expression in 99 patient-matched surgical samples ranging from normal ..
- Olson H, Jean Marçais N, Yang E, Heron D, Tatton Brown K, van der Zwaag P, et al. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. Am J Hum Genet. 2018;102:995-1007 pubmed publisher..PACS2 is an important PACS1 paralog and encodes a multifunctional sorting protein involved in nuclear gene expression and pathway traffic ..
- Pefkianaki M, Schneider A, Capasso J, Wasserman B, Bardakjian T, Levin A. Ocular manifestations of PACS1 mutation. J AAPOS. 2018;22:323-325 pubmed publisherHeterozygous mutation in the PACS1 (phosphofurin acidic cluster sorting proteins 1) gene is a known cause of developmental delay, multiple congenital anomalies, dysmorphism, and ocular abnormalities...
- Leavitt S, SchOn A, Klein J, Manjappara U, Chaiken I, Freire E. Interactions of HIV-1 proteins gp120 and Nef with cellular partners define a novel allosteric paradigm. Curr Protein Pept Sci. 2004;5:1-8 pubmed..A better understanding of these interactions would lead to improved strategies for inhibitor design against these viral targets. ..
- Hinners I, Wendler F, Fei H, Thomas L, Thomas G, Tooze S. AP-1 recruitment to VAMP4 is modulated by phosphorylation-dependent binding of PACS-1. EMBO Rep. 2003;4:1182-9 pubmed
- Pal S, Mishra M, Sudhakar D, Siddiqui M. In-silico designing of a potent analogue against HIV-1 Nef protein and protease by predicting its interaction network with host cell proteins. J Pharm Bioallied Sci. 2013;5:66-73 pubmed publisher..The newly designed analogue (LOPI1) is showing significant in silico interaction with Nef protein and protease and can be taken forward as a potent drug lead, which may finally emerge out to be even better than the standard Lopinavir. ..
- Dirk B, Jacob R, Johnson A, Pawlak E, Cavanagh P, Van Nynatten L, et al. Viral bimolecular fluorescence complementation: a novel tool to study intracellular vesicular trafficking pathways. PLoS ONE. 2015;10:e0125619 pubmed publisher..In summary, viral BiFC is a unique tool designed to analyze the interaction between Nef and host cellular proteins by mapping the sub-cellular locations of their interactions during viral infection. ..
- Stove V, Naessens E, Stove C, Swigut T, Plum J, Verhasselt B. Signaling but not trafficking function of HIV-1 protein Nef is essential for Nef-induced defects in human intrathymic T-cell development. Blood. 2003;102:2925-32 pubmed..These results point to sites in Nef to target therapeutically for restoration of thymopoiesis in HIV infection. ..
- Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, et al. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. Clin Genet. 2017;: pubmed publisherA novel causative variant (c.608G>A, p.Arg203Gln) in PACS1.
- Song Q, Song J, Wang Y, Wang S, Yang Y, Meng X, et al. Association Study of Three Gene Polymorphisms Recently Identified by a Genome-Wide Association Study with Obesity-Related Phenotypes in Chinese Children. Obes Facts. 2017;10:179-190 pubmed publisher..The pooled odds ratios of the A-allele of rs564343 in PACS1 for obesity and severe obesity were 1.180 (p = 0.03) and 1.312 (p = 0.004), respectively...
- Budhiraja S, Liu H, Couturier J, Malovannaya A, Qin J, Lewis D, et al. Mining the human complexome database identifies RBM14 as an XPO1-associated protein involved in HIV-1 Rev function. J Virol. 2015;89:3557-67 pubmed publisher..This study validates the nuclear complexome database as a reference that can be mined to identify viral cofactors. ..
- Dikeakos J, Thomas L, Kwon G, Elferich J, Shinde U, Thomas G. An interdomain binding site on HIV-1 Nef interacts with PACS-1 and PACS-2 on endosomes to down-regulate MHC-I. Mol Biol Cell. 2012;23:2184-97 pubmed publisher..Our results provide insight into the molecular basis of Nef action and suggest new strategies to combat HIV-1. ..
- Schuurs Hoeijmakers J, Landsverk M, Foulds N, Kukolich M, Gavrilova R, Greville Heygate S, et al. Clinical delineation of the PACS1-related syndrome--Report on 19 patients. Am J Med Genet A. 2016;170:670-5 pubmed publisherWe report on 19 individuals with a recurrent de novo c.607C>T mutation in PACS1. This specific mutation gives rise to a recognizable intellectual disability syndrome...
- Thomas G, Aslan J, Thomas L, Shinde P, Shinde U, Simmen T. Caught in the act - protein adaptation and the expanding roles of the PACS proteins in tissue homeostasis and disease. J Cell Sci. 2017;130:1865-1876 pubmed publisher..These discoveries suggest that investigation of the evolving PACS protein family provides a rich opportunity for insight into vertebrate cell and organ homeostasis. ..
- Sun M, Zhang H. Par3 and aPKC regulate BACE1 endosome-to-TGN trafficking through PACS1. Neurobiol Aging. 2017;60:129-140 pubmed publisher..phosphorylation of BACE1 on Ser498, which in turn promotes the interaction between BACE1 and phosphofurin acidic cluster sorting protein 1 and facilitates the retrograde trafficking of BACE1 to the TGN...
- Wheeler E, Huang N, Bochukova E, Keogh J, Lindsay S, Garg S, et al. Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nat Genet. 2013;45:513-7 pubmed publisher..971 severely obese children and 1,990 controls identified 4 new loci associated with severe obesity (LEPR, PRKCH, PACS1 and RMST)...
- Schuurs Hoeijmakers J, Oh E, Vissers L, Swinkels M, Gilissen C, Willemsen M, et al. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet. 2012;91:1122-7 pubmed publisher..Exome sequencing in both families identified identical de novo mutations in PACS1, suggestive of causality...
- Scott G, Gu F, Crump C, Thomas L, Wan L, Xiang Y, et al. The phosphorylation state of an autoregulatory domain controls PACS-1-directed protein traffic. EMBO J. 2003;22:6234-44 pubmed..These results suggest that coordinated signaling events regulate transport within the TGN/endosomal system through the phosphorylation state of both cargo and the sorting machinery. ..
- Baugh L, Garcia J, Foster J. Functional characterization of the human immunodeficiency virus type 1 Nef acidic domain. J Virol. 2008;82:9657-67 pubmed publisher..Our results are consistent with an alternative model in which (62)EEEE(65) plays a stabilizing role in the formation of a ternary complex between Nef, the MHC-I cytoplasmic domain, and AP-1. ..
- Schmidt V, Sporbert A, Rohe M, Reimer T, Rehm A, Andersen O, et al. SorLA/LR11 regulates processing of amyloid precursor protein via interaction with adaptors GGA and PACS-1. J Biol Chem. 2007;282:32956-64 pubmed..Thus, our findings identified altered routing of sorLA as a major cellular mechanism contributing to abnormal APP processing and enhanced amyloid beta-peptide formation. ..
- Brasacchio D, Alsop A, Noori T, Lufti M, Iyer S, Simpson K, et al. Epigenetic control of mitochondrial cell death through PACS1-mediated regulation of BAX/BAK oligomerization. Cell Death Differ. 2017;24:961-970 pubmed publisher..Here we show that PCAF and ADA3 regulate the expression of PACS1, whose protein product is a key component of the machinery that sorts proteins among the trans-Golgi network and ..
- Burgert T, Schmidt V, Caglayan S, Lin F, Füchtbauer A, Füchtbauer E, et al. SORLA-dependent and -independent functions for PACS1 in control of amyloidogenic processes. Mol Cell Biol. 2013;33:4308-20 pubmed publisher..We focused on the interaction of SORLA with phosphofurin acidic cluster sorting protein 1 (PACS1), an adaptor that shuttles proteins between the trans-Golgi network (TGN) and endosomes...