Genomes and Genes
Gene Symbol: AP1S2
Description: adaptor related protein complex 1 subunit sigma 2
Alias: DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B, AP-1 complex subunit sigma-2, adapter-related protein complex 1 sigma-1B subunit, adaptor protein complex AP-1 sigma-1B subunit, adaptor related protein complex 1 sigma 2 subunit, adaptor-related protein complex 1 subunit sigma-1B, clathrin adaptor complex AP1 sigma 1B subunit, clathrin assembly protein complex 1 sigma-1B small chain, golgi adaptor HA1/AP1 adaptin sigma-1B subunit, sigma1B-adaptin
- Vitiello M, Tuccoli A, D Aurizio R, Sarti S, Giannecchini L, Lubrano S, et al. Context-dependent miR-204 and miR-211 affect the biological properties of amelanotic and melanotic melanoma cells. Oncotarget. 2017;8:25395-25417 pubmed publisher..in amelanotic melanoma cells, where it acts as an effector of vemurafenib's anti-motility activity by targeting AP1S2. Conversely, miR-211, a known transcriptional target of MITF, is induced in melanotic melanoma cells, where it ..
- Shaheen R, Sebai M, Patel N, Ewida N, Kurdi W, Altweijri I, et al. The genetic landscape of familial congenital hydrocephalus. Ann Neurol. 2017;81:890-897 pubmed publisher..Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ)...
- 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. ..
- Cacciagli P, Desvignes J, Girard N, Delepine M, Zelenika D, Lathrop M, et al. AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome). Eur J Hum Genet. 2014;22:363-8 pubmed publisherb>MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis...
- Mulley J, Kerr B, Stevenson R, Lubs H. Nomenclature guidelines for X-linked mental retardation. Am J Med Genet. 1992;43:383-91 pubmed..Prior approval of availability for proposed gene symbols must be obtained from the Nomenclature Committee of the Human Gene Mapping Workshops. ..
- 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. ..
- 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. ..
- 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
- 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...
- Carpenter N, Brown W, Qu Y, Keenan K. Regional localization of a nonspecific X-linked mental retardation gene (MRX59) to Xp21.2-p22.2. Am J Med Genet. 1999;85:266-70 pubmedLinkage analysis was performed on a four-generation family with nonspecific mental retardation (MRX59)...
- 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..The yeast sequence predicts Yap17p, a protein with 147 amino acids and a Mr of 17,373 that is slightly more related to the mammalian AP17 chain than to its AP19 counterpart. ..
- Tarpey P, Stevens C, Teague J, Edkins S, O Meara S, Avis T, et al. Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation. Am J Hum Genet. 2006;79:1119-24 pubmed..mental retardation (XLMR), we identified two nonsense mutations and one consensus splice-site mutation in the AP1S2 gene on Xp22 in three families. Affected individuals in these families showed mild-to-profound mental retardation...
- Saillour Y, Zanni G, Des Portes V, Heron D, Guibaud L, Iba Zizen M, et al. Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. J Med Genet. 2007;44:739-44 pubmed..2. In total, 60 candidate genes located in this region, including AP1S2, which was recently shown to be involved in mental retardation, were screened for mutations...
- Borck G, Molla Herman A, Boddaert N, Encha Razavi F, Philippe A, Robel L, et al. Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome. Hum Mutat. 2008;29:966-74 pubmed publisherMutations in the AP1S2 gene, encoding the sigma1B subunit of the clathrin-associated adaptor protein complex (AP)-1, have been recently identified in five X-linked mental retardation (XLMR) families, including the original family with ..
- 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. ..
- Santos da Silva E, Mulinge M, Perez Bercoff D. The frantic play of the concealed HIV envelope cytoplasmic tail. Retrovirology. 2013;10:54 pubmed publisher..It also considers the cellular and viral proteins that have been described to interact with the gp41-CT, with a particular focus on subtype-related polymorphisms. ..
- Baltes J, Larsen J, Radhakrishnan K, Geumann C, Kratzke M, Petersen C, et al. ?1B adaptin regulates adipogenesis by mediating the sorting of sortilin in adipose tissue. J Cell Sci. 2014;127:3477-87 pubmed publisher..Vertebrates express three AP1 ?1 subunit isoforms - ?1A, ?1B and ?1C (also known as AP1S1, AP1S2 and AP1S3, respectively). ?1B-deficient mice display impaired recycling of synaptic vesicles and lipodystrophy...
- 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..in this paper), the small chain of the AP-1 complex, but also with a novel sigma1-like protein, designated as sigma1B, which shows an 87% amino acid identity to sigma1A; and that, unlike gamma1-adaptin, it is unable to interact ..
- 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. ..
- 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. ..