AP2S1

Summary

Gene Symbol: AP2S1
Description: adaptor related protein complex 2 subunit sigma 1
Alias: AP17, CLAPS2, FBH3, FBHOk, HHC3, AP-2 complex subunit sigma, HA2 17 kDa subunit, adaptor protein complex AP-2 subunit sigma, adaptor related protein complex 2 sigma 1 subunit, clathrin assembly protein 2 sigma small chain, clathrin coat assembly protein AP17, clathrin coat-associated protein AP17, clathrin-associated/assembly/adaptor protein, small 2 (17kD), plasma membrane adaptor AP-2 17 kDa protein, sigma2-adaptin
Species: human
Products:     AP2S1

Top Publications

  1. 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
    b>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...
  2. Garcia J, Miller A. Serine phosphorylation-independent downregulation of cell-surface CD4 by nef. Nature. 1991;350:508-11 pubmed
    ..Also, nef can downregulate a CD4 triple mutant (Ser----Ala) that is neither phosphorylated nor down-regulated by phorbol esters, indicating that nef is acting by a different mechanism. ..
  3. Jin Y, Cai C, Mezei M, Ohlmeyer M, Sanchez R, Burakoff S. Identification of a novel binding site between HIV type 1 Nef C-terminal flexible loop and AP2 required for Nef-mediated CD4 downregulation. AIDS Res Hum Retroviruses. 2013;29:725-31 pubmed publisher
  4. Collins B, McCoy A, Kent H, Evans P, Owen D. Molecular architecture and functional model of the endocytic AP2 complex. Cell. 2002;109:523-35 pubmed
    ..A model for AP2 recruitment and activation is proposed. ..
  5. Lloyd S, Pannett A, Dixon P, Whyte M, Thakker R. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. Am J Hum Genet. 1999;64:189-95 pubmed
    ..search, using chromosome-specific sets of microsatellite polymorphisms, in an Oklahoma family with an FBH variant (FBHOk), for which linkage to 3q and 19p had been excluded...
  6. Silva R, Berton M, Grigoletto L, Carvalho F, Silva R, Peripolli E, et al. Genomic regions and enrichment analyses associated with carcass composition indicator traits in Nellore cattle. J Anim Breed Genet. 2019;136:118-133 pubmed publisher
    ..0% of the additive genetic variance were used. Genes identified within the significant windows, such as FOXA3, AP2S1, FKRP, NPASI and ATP6V1G1, were found to be related with MS, while OMA1 and FFGY with BS and FP traits...
  7. Tenhola S, Hendy G, Valta H, Canaff L, Lee B, Wong B, et al. Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation. J Clin Endocrinol Metab. 2015;100:2515-8 pubmed publisher
    ..Further DNA analysis of adaptor protein-2 σ subunit (AP2S1) showed a heterozygous missense mutation c.44 G>T, resulting in a p...
  8. Marx S. Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology. J Clin Endocrinol Metab. 2017;102:3933-3936 pubmed publisher
    ..FHH reflects heterozygous germline mutation of CASR, GNA11, or AP2S1. These mutations inactivate the CaSRs in the parathyroid cell...
  9. Mayr B, Schnabel D, Dörr H, Schöfl C. GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts. Eur J Endocrinol. 2016;174:R189-208 pubmed publisher
    ..Mutations of the CASR, the G protein alpha 11 (GNA11) and the adaptor-related protein complex 2 sigma 1 subunit (AP2S1) genes can shift the set point for calcium sensing causing hyper- or hypo-calcemic disorders...

More Information

Publications43

  1. Hannan F, Babinsky V, Thakker R. Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis. J Mol Endocrinol. 2016;57:R127-42 pubmed publisher
    ..11 (Gα11) subunit, lead to FHH type 2 and ADH type 2, respectively; whilst loss-of-function mutations of AP2S1 on chromosome 19q13...
  2. Li Y, Wang O, Quan T, Xia W, Jiang Y, Li M, et al. [A genomic study of adult-onset idiopathic hypoparathyroidism in Chinese by targeted next-generation sequencing]. Zhonghua Nei Ke Za Zhi. 2016;55:604-8 pubmed publisher
    ..Targeted NGS was performed to screen 11 related genes, including AIRE, AP2S1, CASR, CLDN16, FAM111A, GATA3, GCM2, PTH, TBCE, TBX1 and TRPM6. A novel homozygosis mutation of GCMB gene[c...
  3. Wang X, Liu Q, Wu Y, Huang J. Litopenaeus vannamei clathrin coat AP17 involved in white spot syndrome virus infection. Fish Shellfish Immunol. 2016;52:309-16 pubmed publisher
    ..By sequence analysis, clathrin coat AP17 is an ? subunit of AP-2 complex which is involved in clathrin-mediated endocytosis...
  4. Xia J, Qi X, Wu Y, Zhu B, Xu L, Zhang L, et al. Genome-wide association study identifies loci and candidate genes for meat quality traits in Simmental beef cattle. Mamm Genome. 2016;27:246-55 pubmed publisher
    ..SNPs were in or near eleven genes which have been reported previously, including TMEM236, SORL1, TRDN, S100A10, AP2S1, KCTD16, LOC506594, DHX15, LAMA4, PREX1, and BRINP3...
  5. Pearse B, Smith C, Owen D. Clathrin coat construction in endocytosis. Curr Opin Struct Biol. 2000;10:220-8 pubmed
  6. Yano H, Lee F, Kong H, Chuang J, Arevalo J, Perez P, et al. Association of Trk neurotrophin receptors with components of the cytoplasmic dynein motor. J Neurosci. 2001;21:RC125 pubmed
    ..The association of Trk receptors with components of cytoplasmic dynein suggests that transport of neurotrophins during vesicular trafficking may occur through a direct interaction of the Trk receptor with the dynein motor machinery. ..
  7. Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou M, et al. Diseases associated with calcium-sensing receptor. Orphanet J Rare Dis. 2017;12:19 pubmed publisher
    ..diagnosis consists in the hypocalciuric hypercalcaemia syndrome, types 2 (involving GNA11 gene) and 3 (involving AP2S1 gene); hyperparathyroidism; abnormalities of vitamin D metabolism, involving CYP24A1 and SLC34A1 genes; and ..
  8. Byland R, Vance P, Hoxie J, Marsh M. A conserved dileucine motif mediates clathrin and AP-2-dependent endocytosis of the HIV-1 envelope protein. Mol Biol Cell. 2007;18:414-25 pubmed
  9. Winterpacht A, Endele S, Enklaar T, Fuhry M, Zabel B. Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3. Cytogenet Cell Genet. 1996;75:132-5 pubmed
    ..The cDNA is highly conserved between rat and human. Human AP17, gene symbol CLAPS2 (clathrin-associated/assembly/adaptor protein, small 3, 17 kDa), was assigned to chromosome region 19q13...
  10. Ren X, Park S, Bonifacino J, Hurley J. How HIV-1 Nef hijacks the AP-2 clathrin adaptor to downregulate CD4. elife. 2014;3:e01754 pubmed publisher
    ..DOI: http://dx.doi.org/10.7554/eLife.01754.001. ..
  11. Kirchhausen T, Nathanson K, Matsui W, Vaisberg A, Chow E, Burne C, et al. Structural and functional division into two domains of the large (100- to 115-kDa) chains of the clathrin-associated protein complex AP-2. Proc Natl Acad Sci U S A. 1989;86:2612-6 pubmed
    ..AP-2 was purified as an assembly of several polypeptide chains (alpha, beta, AP50, and AP17), of which only the alpha and beta chains (100-115 kDa) show significant heterogeneity...
  12. Hannan F, Howles S, Rogers A, Cranston T, Gorvin C, Babinsky V, et al. Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects. Hum Mol Genet. 2015;24:5079-92 pubmed publisher
    ..Thus, our studies demonstrate AP2σ2 mutations to result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue. ..
  13. Hendy G, Canaff L, Newfield R, Tripto Shkolnik L, Wong B, Lee B, et al. Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. J Clin Endocrinol Metab. 2014;99:E1311-5 pubmed publisher
    ..mutations in the adaptor-related protein complex 2, ?-2 subunit that interacts with the CaSR and is encoded by the AP2S1 gene...
  14. Batonick M, Favre M, Boge M, Spearman P, Honing S, Thali M. Interaction of HIV-1 Gag with the clathrin-associated adaptor AP-2. Virology. 2005;342:190-200 pubmed
    ..Together these data attribute a role to the AP-2 complex in the regulation of HIV-1 assembly/release. ..
  15. Rosenthal J, Chen H, Slepnev V, Pellegrini L, Salcini A, Di Fiore P, et al. The epsins define a family of proteins that interact with components of the clathrin coat and contain a new protein module. J Biol Chem. 1999;274:33959-65 pubmed
    ..The epsins define a new protein family implicated in membrane dynamics at the cell surface. ..
  16. Lambert A, Grybek V, Francou B, Esterle L, Bertrand G, Bouligand J, et al. Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. J Clin Endocrinol Metab. 2014;99:E469-73 pubmed publisher
    ..Recurrent missense mutations in AP2S1, a calcium-sensing receptor regulator, have been recently identified in familial hyperparathyroidism...
  17. Krieger J, Taylor P, Gajadhar A, Guha A, Moran M, McGlade C. Identification and selected reaction monitoring (SRM) quantification of endocytosis factors associated with Numb. Mol Cell Proteomics. 2013;12:499-514 pubmed publisher
    ..Hence, quantitative mass spectrometric analysis of Numb protein-protein interactions has provided new insights into the assembly and regulation of protein complexes important in development and cancer. ..
  18. Bukrinskaya A. HIV-1 matrix protein: a mysterious regulator of the viral life cycle. Virus Res. 2007;124:1-11 pubmed
    ..It is suggested that two MA fractions possess diverse functions and are involved in different stages of virus morphogenesis as key regulators of the viral life cycle. ..
  19. Marx S. Familial Hypocalciuric Hypercalcemia as an Atypical Form of Primary Hyperparathyroidism. J Bone Miner Res. 2017;: pubmed publisher
    ..Methods I analyzed selected articles about calcium-sensing receptors, FHH, PHPT, CASR, GNA11, and AP2S1. Results FHH usually results from a heterozygous germline inactivating mutation of the CASR, and less frequently ..
  20. Stove V, Van de Walle I, Naessens E, Coene E, Stove C, Plum J, et al. Human immunodeficiency virus Nef induces rapid internalization of the T-cell coreceptor CD8alphabeta. J Virol. 2005;79:11422-33 pubmed
    ..The Nef-mediated internalization of receptors, such as CD4, major histocompatibility complex class I, CD28, and CD8alphabeta, may contribute to the subversion of the host immune system and progression towards AIDS. ..
  21. Vendeville A, Rayne F, Bonhoure A, Bettache N, Montcourrier P, Beaumelle B. HIV-1 Tat enters T cells using coated pits before translocating from acidified endosomes and eliciting biological responses. Mol Biol Cell. 2004;15:2347-60 pubmed
    ..Hence, Tat enters T cells essentially like diphtheria toxin, using clathrin-mediated endocytosis before low-pH-induced and Hsp90-assisted endosomal translocation. Cell responses are then induced from the cytosol. ..
  22. Holzmann K, Pöltl A, Sauermann G. A novel spliced transcript of human CLAPS2 encoding a protein alternative to clathrin adaptor protein AP17. Gene. 1998;220:39-44 pubmed
    ..AP17, encoded by human CLAPS2 cDNA, is the small chain of the major clathrin adaptor complex AP-2 associated with mammalian plasma membranes...
  23. Rogers A, Nesbit M, Hannan F, Howles S, Gorvin C, Cranston T, et al. Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3). J Clin Endocrinol Metab. 2014;99:E1300-5 pubmed publisher
    ..Loss-of-function mutations of adaptor protein-2 sigma subunit (AP2? 2), encoded by AP2S1, cause FHH3, and we therefore sought for gain-of-function AP2S1 mutations that may cause an additional form of ADH,..
  24. Miller S, Mathiasen S, Bright N, Pierre F, Kelly B, Kladt N, et al. CALM regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature. Dev Cell. 2015;33:163-75 pubmed publisher
    ..CALM is thus a major factor in controlling CCV size and maturation and hence in determining the rates of endocytic cargo uptake. ..
  25. Page L, Robinson M. Targeting signals and subunit interactions in coated vesicle adaptor complexes. J Cell Biol. 1995;131:619-30 pubmed
    ..The subunit composition of the plasma membrane adaptor complex is alpha-adaptin, beta-adaptin, AP50, and AP17; while that of the TGN adaptor complex is gamma-adaptin, beta'-adaptin, AP47, and AP19...
  26. Lu W, Ziff E. PICK1 interacts with ABP/GRIP to regulate AMPA receptor trafficking. Neuron. 2005;47:407-21 pubmed
    ..We suggest that the PICK1 interaction with ABP/GRIP is a critical step in controlling GluR2 trafficking. ..
  27. Boll W, Rapoport I, Brunner C, Modis Y, Prehn S, Kirchhausen T. The mu2 subunit of the clathrin adaptor AP-2 binds to FDNPVY and YppØ sorting signals at distinct sites. Traffic. 2002;3:590-600 pubmed
    ..These results suggest the possibility that low-density lipoprotein receptor uptake may be modulated specifically and independently of other proteins in the clathrin pathway. ..
  28. Dutta D, Chakraborty S, Bandyopadhyay C, Valiya Veettil M, Ansari M, Singh V, et al. EphrinA2 regulates clathrin mediated KSHV endocytosis in fibroblast cells by coordinating integrin-associated signaling and c-Cbl directed polyubiquitination. PLoS Pathog. 2013;9:e1003510 pubmed publisher
  29. Marx S, Lourenço D. Familial Hyperparathyroidism - Disorders of Growth and Secretion in Hormone-Secretory Tissue. Horm Metab Res. 2017;49:805-815 pubmed publisher
    ..It reflects germline heterozygous mutation in CASR, GNA11, or AP2S1. 2) Neonatal severe primary hyperparathyroidism is severest of the six syndromes...
  30. Szalat A, Shpitzen S, Tsur A, Zalmon Koren I, Shilo S, Tripto Shkolnik L, et al. Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. Endocrine. 2017;55:741-747 pubmed publisher
    ..of three genes: the calcium-sensing receptor (CaSR) defining FHH-type 1, the adaptor-related protein complex 2 (AP2S1) related to FHH-type 3 or the G-protein subunit alpha11 (GNA11) associated with FHH-type 2...
  31. Hovden S, Rejnmark L, Ladefoged S, Nissen P. AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. Eur J Endocrinol. 2017;176:177-185 pubmed
    ..Recently, mutations affecting codon 15 in the gene AP2S1 have been shown to cause FHH type 3 in up to 26% of CASR-negative FHH patients...
  32. Nesbit M, Hannan F, Howles S, Reed A, Cranston T, Thakker C, et al. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet. 2013;45:93-7 pubmed publisher
    ..Here we show that missense mutations of AP2 σ subunit (AP2S1) affecting Arg15, which forms key contacts with dileucine-based motifs of CCV cargo proteins, result in familial ..
  33. 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. ..
  34. 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