AP1S1

Summary

Gene Symbol: AP1S1
Description: adaptor related protein complex 1 subunit sigma 1
Alias: AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A, AP-1 complex subunit sigma-1A, HA1 19 kDa subunit, adapter-related protein complex 1 sigma-1A subunit, adaptor protein complex AP-1 subunit sigma-1A, adaptor related protein complex 1 sigma 1 subunit, adaptor-related protein complex 1 subunit sigma-1A, clathrin assembly protein complex 1 sigma-1A small chain, clathrin coat assembly protein AP19, clathrin-associated/assembly/adaptor protein, small 1 (19kD), golgi adaptor HA1/AP1 adaptin sigma-1A subunit, sigma1A subunit of AP-1 clathrin adaptor complex, sigma1A-adaptin
Species: human
Products:     AP1S1

Top Publications

  1. Saba T, Montpetit A, Verner A, Rioux P, Hudson T, Drouin R, et al. An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22. Hum Genet. 2005;116:167-71 pubmed
    Erythrokeratodermia variabilis 3 (Kamouraska type) or EKV3 is a newly described autosomal recessive disorder observed in patients from the Bas St-Laurent region of Quebec...
  2. Janvier K, Craig H, Hitchin D, Madrid R, Sol Foulon N, Renault L, et al. HIV-1 Nef stabilizes the association of adaptor protein complexes with membranes. J Biol Chem. 2003;278:8725-32 pubmed
    ..The stabilization of these complexes on membranes may underlie the pleiotropic effects of Nef on protein trafficking within the endosomal system. ..
  3. Bresnahan P, Yonemoto W, Ferrell S, Williams Herman D, Geleziunas R, Greene W. A dileucine motif in HIV-1 Nef acts as an internalization signal for CD4 downregulation and binds the AP-1 clathrin adaptor. Curr Biol. 1998;8:1235-8 pubmed
    ..Our findings also reveal an evolutionary difference between HIV-1 and HIV-2/SIV in which the Nef proteins utilize structurally distinct motifs for binding cellular adaptors. ..
  4. Greenberg M, DeTulleo L, Rapoport I, Skowronski J, Kirchhausen T. A dileucine motif in HIV-1 Nef is essential for sorting into clathrin-coated pits and for downregulation of CD4. Curr Biol. 1998;8:1239-42 pubmed
    ..Thus, the dileucine motif in HIV-1 is required for CD4 downregulation and for interaction with clathrin adaptor complexes. ..
  5. Page L, Robinson M. Targeting signals and subunit interactions in coated vesicle adaptor complexes. J Cell Biol. 1995;131:619-30 pubmed
    ..beta-adaptin, AP50, and AP17; while that of the TGN adaptor complex is gamma-adaptin, beta'-adaptin, AP47, and AP19. To search for adaptor targeting signals, we have constructed chimeras between alpha-adaptin and gamma-adaptin ..
  6. Roeth J, Williams M, Kasper M, Filzen T, Collins K. HIV-1 Nef disrupts MHC-I trafficking by recruiting AP-1 to the MHC-I cytoplasmic tail. J Cell Biol. 2004;167:903-13 pubmed
    ..In sum, our evidence suggests that binding of AP-1 to the Nef-MHC-I complex is an important step required for inhibition of antigen presentation by HIV. ..
  7. Doray B, Ghosh P, Griffith J, Geuze H, Kornfeld S. Cooperation of GGAs and AP-1 in packaging MPRs at the trans-Golgi network. Science. 2002;297:1700-3 pubmed
    ..MPRs that are defective in binding to GGAs are poorly incorporated into AP-1-containing clathrin-coated vesicles. Thus, the GGAs and AP-1 interact to package MPRs into AP-1-containing coated vesicles. ..
  8. Craig H, Pandori M, Guatelli J. Interaction of HIV-1 Nef with the cellular dileucine-based sorting pathway is required for CD4 down-regulation and optimal viral infectivity. Proc Natl Acad Sci U S A. 1998;95:11229-34 pubmed
    ..The data also suggest that an influence on the distribution of cellular transmembrane proteins may mechanistically unite two previously distinct properties of Nef: down-regulation of CD4 and enhancement of viral infectivity. ..
  9. Annunziato K, Jantzen C, Gronske M, Cooper K. Subtle morphometric, behavioral and gene expression effects in larval zebrafish exposed to PFHxA, PFHxS and 6:2 FTOH. Aquat Toxicol. 2019;208:126-137 pubmed publisher
    ..Gene expression was the most sensitive endpoint with significant increased tgfb1a, bdnf, and ap1s1 expression observed with PFHxA exposure...

More Information

Publications37

  1. Incecik F, Bisgin A, Yilmaz M. MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features. Metab Brain Dis. 2018;33:2065-2068 pubmed publisher
    b>MEDNIK syndrome is an autosomal recessive rare disease as one of the most recently described copper metabolism disorder characterized by intellectual disability, ichthyosis, hearing loss, peripheral neuropathy, enteropathy and ..
  2. Babinský M, Fiala R, Kejnovská I, Bednářová K, Marek R, Sagi J, et al. Loss of loop adenines alters human telomere d[AG3(TTAG3)3] quadruplex folding. Nucleic Acids Res. 2014;42:14031-41 pubmed publisher
    ..conformational effects of AP sites substituted for 2'-deoxyadenosine in the first (ap7), second (ap13) or third (ap19) loop of the quadruplex formed in K(+) by the human telomere DNA 5'-d[AG3(TTAG3)3]...
  3. Poels K, Verellen D, Van de Vondel I, El Mazghari R, Depuydt T, de Ridder M. Fiducial marker and marker-less soft-tissue detection using fast MV fluoroscopy on a new generation EPID: investigating the influence of pulsing artifacts and artifact suppression techniques. Med Phys. 2014;41:101911 pubmed publisher
    ..5 Hz, a new commercially available PerkinElmer EPID (XRD 1642 AP19) with a maximum frame rate of 30 Hz and a new scintillator (Kyokko PI200) with improved sensitivity (light output) ..
  4. Bugel S, Wehmas L, La Du J, Tanguay R. Phenotype anchoring in zebrafish reveals a potential role for matrix metalloproteinases (MMPs) in tamoxifen's effects on skin epithelium. Toxicol Appl Pharmacol. 2016;296:31-41 pubmed publisher
    ..Expression of c-fos, c-jun, and ap1s1 were also moderately elevated (3-7 fold), consistent with AP-1 activity--a transcription factor that regulates MMP ..
  5. Su X, Liang H, Wang H, Chen G, Jiang H, Wu Q, et al. Over-expression of microRNA-1 causes arrhythmia by disturbing intracellular trafficking system. Sci Rep. 2017;7:46259 pubmed publisher
    ..Also, the qRT-PCR and western blot results validated that Stx6, Braf, Ube3a, Mapk8ip3, Ap1s1, Ccz1 and Gja1, which are the trafficking-related genes, were significantly down-regulated in the miR-1 Tg mice...
  6. FOLSCH H, Ohno H, Bonifacino J, Mellman I. A novel clathrin adaptor complex mediates basolateral targeting in polarized epithelial cells. Cell. 1999;99:189-98 pubmed
    ..We conclude that basolateral sorting is mediated by an epithelial cell-specific version of the AP-1 complex containing mu1B...
  7. Jia X, Weber E, Tokarev A, Lewinski M, Rizk M, Suarez M, et al. Structural basis of HIV-1 Vpu-mediated BST2 antagonism via hijacking of the clathrin adaptor protein complex 1. elife. 2014;3:e02362 pubmed publisher
    ..The ability of Vpu to hijack AP-dependent trafficking pathways suggests a potential common theme for Vpu-mediated downregulation of host proteins.DOI: http://dx.doi.org/10.7554/eLife.02362.001. ..
  8. Kulpa D, Del Cid N, Peterson K, Collins K. Adaptor protein 1 promotes cross-presentation through the same tyrosine signal in major histocompatibility complex class I as that targeted by HIV-1. J Virol. 2013;87:8085-98 pubmed publisher
    ..Thus, we provide evidence for two separable cross-presentation pathways, only one of which is targeted by HIV...
  9. Vermeire J, Vanbillemont G, Witkowski W, Verhasselt B. The Nef-infectivity enigma: mechanisms of enhanced lentiviral infection. Curr HIV Res. 2011;9:474-89 pubmed
    ..Hereby we aim to contribute to a better understanding of this highly conserved and therapeutically attractive Nef function. ..
  10. Berlioz Torrent C, Shacklett B, Erdtmann L, Delamarre L, Bouchaert I, Sonigo P, et al. Interactions of the cytoplasmic domains of human and simian retroviral transmembrane proteins with components of the clathrin adaptor complexes modulate intracellular and cell surface expression of envelope glycoproteins. J Virol. 1999;73:1350-61 pubmed
  11. Benichou S, Benmerah A. [The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway]. Med Sci (Paris). 2003;19:100-6 pubmed
    ..In addition, these viral factors represent valuable tools to study the pathway they are perturbing. ..
  12. Lefrancois S, Janvier K, Boehm M, Ooi C, Bonifacino J. An ear-core interaction regulates the recruitment of the AP-3 complex to membranes. Dev Cell. 2004;7:619-25 pubmed
    ..These observations suggest a new regulatory mechanism for the recruitment of AP-3 to membranes involving delta-ear-sigma3 interactions. ..
  13. Kirchhausen T. Clathrin. Annu Rev Biochem. 2000;69:699-727 pubmed
    ..This review summarizes and illustrates the recent structural results and outlines what is known about coated-vesicle assembly in the context of this information. ..
  14. Boehm M, Aguilar R, Bonifacino J. Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs). EMBO J. 2001;20:6265-76 pubmed
    ..These observations establish AP-4 as an ARF1 effector and suggest a novel mode of interaction between ARF1 and an AP complex involving both constitutive and regulated interactions. ..
  15. Peyrard M, Parveneh S, Lagercrantz S, Ekman M, Fransson I, Sahlén S, et al. Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG). Genomics. 1998;50:275-80 pubmed
    ..In addition, we localized genes for two other components of the AP-1 adaptor, i.e., the medium (AP47) and small (AP19) subunits, to chromosomes 19 and 7, respectively...
  16. Checkley M, Luttge B, Freed E. HIV-1 envelope glycoprotein biosynthesis, trafficking, and incorporation. J Mol Biol. 2011;410:582-608 pubmed publisher
    ..Here, we review our current understanding of HIV-1 Env glycoprotein trafficking and incorporation into virions. ..
  17. Coleman S, Van Damme N, Day J, Noviello C, Hitchin D, Madrid R, et al. Leucine-specific, functional interactions between human immunodeficiency virus type 1 Nef and adaptor protein complexes. J Virol. 2005;79:2066-78 pubmed
    ..This binding likely underlies the unusual ability of Nef to induce the stabilization of these complexes on endosomal membranes, an activity that correlates with enhancement of viral replication. ..
  18. Tzitzivacos D, Tiemessen C, Stevens W, Papathanasopoulos M. Viral genetic determinants of nonprogressive HIV type 1 subtype C infection in antiretroviral drug-naive children. AIDS Res Hum Retroviruses. 2009;25:1141-8 pubmed publisher
    ..For example, LT46 Nef is unable to bind AP-1 and AP-2 and therefore is inactive on CD4 endocytosis. The biological relevance of these findings requires further investigation. ..
  19. Leong W, Chow V. Transcriptomic and proteomic analyses of rhabdomyosarcoma cells reveal differential cellular gene expression in response to enterovirus 71 infection. Cell Microbiol. 2006;8:565-80 pubmed
    ..Thus, microarray, real-time RT-PCR and proteomic analyses can elucidate the global view of the numerous and complex cellular responses that contribute towards EV71 pathogenesis. ..
  20. Coleman S, Hitchin D, Noviello C, Guatelli J. HIV-1 Nef stabilizes AP-1 on membranes without inducing ARF1-independent de novo attachment. Virology. 2006;345:148-55 pubmed
    ..We conclude that Nef stabilizes AP complexes on endosomal membranes after ARF1-dependent attachment. This stabilization may facilitate coat formation and stimulate the trafficking of multiple cellular proteins. ..
  21. Hirst J, Lindsay M, Robinson M. GGAs: roles of the different domains and comparison with AP-1 and clathrin. Mol Biol Cell. 2001;12:3573-88 pubmed
    ..Together with results from other studies, our findings suggest that the GGAs act as monomeric adaptors, with the four domains involved in cargo selection, membrane localization, clathrin binding, and accessory protein recruitment. ..
  22. Wyss S, Berlioz Torrent C, Boge M, Blot G, Honing S, Benarous R, et al. The highly conserved C-terminal dileucine motif in the cytosolic domain of the human immunodeficiency virus type 1 envelope glycoprotein is critical for its association with the AP-1 clathrin adaptor [correction of adapter]. J Virol. 2001;75:2982-92 pubmed
    ..Finally, the C-terminal dileucine was shown to assist the membrane-proximal Y712 motif in restricting the cell surface expression of Env. ..
  23. Hirst J, Lui W, Bright N, Totty N, Seaman M, Robinson M. A family of proteins with gamma-adaptin and VHS domains that facilitate trafficking between the trans-Golgi network and the vacuole/lysosome. J Cell Biol. 2000;149:67-80 pubmed
    ..These results indicate that the function of the GGAs is to facilitate the trafficking of proteins between the TGN and the vacuole, or its mammalian equivalent, the lysosome. ..
  24. Kirchhausen T, Davis A, Frucht S, Greco B, Payne G, Tubb B. AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast. J Biol Chem. 1991;266:11153-7 pubmed
    AP17 and AP19 are the smallest polypeptide chain components of AP-2 and AP-1, the clathrin-associated protein complexes found in coated structures of the plasma membrane and Golgi apparatus of mammalian cells...
  25. Montpetit A, Cote S, Brustein E, Drouin C, Lapointe L, Boudreau M, et al. Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord. PLoS Genet. 2008;4:e1000296 pubmed publisher
    ..Here, we describe the first mutation in the human AP1S1 gene, encoding the small subunit sigma1A of the AP-1 complex...
  26. Herbein G, Varin A, Larbi A, Fortin C, Mahlknecht U, Fulop T, et al. Nef and TNFalpha are coplayers that favor HIV-1 replication in monocytic cells and primary macrophages. Curr HIV Res. 2008;6:117-29 pubmed
  27. Martinelli D, Travaglini L, Drouin C, Ceballos Picot I, Rizza T, Bertini E, et al. MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy. Brain. 2013;136:872-81 pubmed publisher
    b>MEDNIK syndrome-acronym for mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia-is caused by AP1S1 gene mutations, encoding ?1A, the small subunit of the adaptor protein 1 complex, which plays a crucial role in ..
  28. Takatsu H, Sakurai M, Shin H, Murakami K, Nakayama K. Identification and characterization of novel clathrin adaptor-related proteins. J Biol Chem. 1998;273:24693-700 pubmed
    ..similarly to gamma1-adaptin, gamma2-adaptin is capable of interacting not only with the sigma1 chain (called as sigma1A in this paper), the small chain of the AP-1 complex, but also with a novel sigma1-like protein, designated as ..