AP1S1 explained

AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.^{[1] [2] [3]}

Function

The protein encoded by this gene is part of the clathrin coat assembly complex which links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. This protein, as well as beta-prime-adaptin, gamma-adaptin, and the medium (mu) chain AP47, form the AP-1 assembly protein complex located at the Golgi vesicle. Two alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported.^[3]

A mutation in the AP1S1 causes the rare familial MEDNIK syndrome described in 2008.^[4]

Interactions

AP1S1 has been shown to interact with AP1G1^{[5] [6]} and RAB10.^[7]

Further reading

• Kirchhausen T . Clathrin . Annual Review of Biochemistry . 69 . 699–727 . 2000 . 10966473 . 10.1146/annurev.biochem.69.1.699 .
• Geyer M, Fackler OT, Peterlin BM . Structure--function relationships in HIV-1 Nef . EMBO Reports . 2 . 7 . 580–5 . Jul 2001 . 11463741 . 1083955 . 10.1093/embo-reports/kve141 .
• Bénichou S, Benmerah A . [The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway] . Médecine/Sciences . 19 . 1 . 100–6 . Jan 2003 . 12836198 . 10.1051/medsci/2003191100 . free .
• Kirchhausen T, Davis AC, Frucht S, Greco BO, Payne GS, Tubb B . AP17 and AP19, the mammalian small chains of the clathrin-associated protein complexes show homology to Yap17p, their putative homolog in yeast . The Journal of Biological Chemistry . 266 . 17 . 11153–7 . Jun 1991 . 10.1016/S0021-9258(18)99141-6 . 2040623 . free .
• Craig HM, Pandori MW, Guatelli JC . Interaction of HIV-1 Nef with the cellular dileucine-based sorting pathway is required for CD4 down-regulation and optimal viral infectivity . Proceedings of the National Academy of Sciences of the United States of America . 95 . 19 . 11229–34 . Sep 1998 . 9736718 . 21624 . 10.1073/pnas.95.19.11229 . 1998PNAS...9511229C . free .
• Bresnahan PA, Yonemoto W, Ferrell S, Williams-Herman D, Geleziunas R, Greene WC . A dileucine motif in HIV-1 Nef acts as an internalization signal for CD4 downregulation and binds the AP-1 clathrin adaptor . Current Biology . 8 . 22 . 1235–8 . Nov 1998 . 9811606 . 10.1016/S0960-9822(07)00517-9 . 16541580 . free . 1998CBio....8.1235B .
• 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 . Current Biology . 8 . 22 . 1239–42 . Nov 1998 . 9811611 . 10.1016/S0960-9822(07)00518-0 . 14272751 . free . 1998CBio....8.1239G .
• Toward a complete human genome sequence . Genome Research . 8 . 11 . 1097–108 . Nov 1998 . 9847074 . 10.1101/gr.8.11.1097 . Sanger Centre . The . Washington University Genome Sequencing Cente . The . free .
• Berlioz-Torrent C, Shacklett BL, Erdtmann L, Delamarre L, Bouchaert I, Sonigo P, Dokhelar MC, Benarous R . 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 . Journal of Virology . 73 . 2 . 1350–61 . Feb 1999 . 9882340 . 103959 . 10.1128/JVI.73.2.1350-1361.1999.
• Fölsch H, Ohno H, Bonifacino JS, Mellman I . A novel clathrin adaptor complex mediates basolateral targeting in polarized epithelial cells . Cell . 99 . 2 . 189–98 . Oct 1999 . 10535737 . 10.1016/S0092-8674(00)81650-5 . 15288582 . free .
• Wyss S, Berlioz-Torrent C, Boge M, Blot G, Höning S, Benarous R, Thali M . 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] . Journal of Virology . 75 . 6 . 2982–92 . Mar 2001 . 11222723 . 115924 . 10.1128/JVI.75.6.2982-2992.2001 .
• Boehm M, Aguilar RC, Bonifacino JS . Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs) . The EMBO Journal . 20 . 22 . 6265–76 . Nov 2001 . 11707398 . 125733 . 10.1093/emboj/20.22.6265 .
• Janvier K, Craig H, Hitchin D, Madrid R, Sol-Foulon N, Renault L, Cherfils J, Cassel D, Benichou S, Guatelli J . HIV-1 Nef stabilizes the association of adaptor protein complexes with membranes . The Journal of Biological Chemistry . 278 . 10 . 8725–32 . Mar 2003 . 12486136 . 10.1074/jbc.M210115200 . free .

Notes and References

1. Peyrard M, Parveneh S, Lagercrantz S, Ekman M, Fransson I, Sahlén S, Dumanski JP . Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG) . Genomics . 50 . 2 . 275–80 . Jun 1998 . 9653655 . 10.1006/geno.1998.5289 .
2. Takatsu H, Sakurai M, Shin HW, Murakami K, Nakayama K . Identification and characterization of novel clathrin adaptor-related proteins . The Journal of Biological Chemistry . 273 . 38 . 24693–700 . Sep 1998 . 9733768 . 10.1074/jbc.273.38.24693 . free .
3. Web site: Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit.
4. Montpetit A, Côté S, Brustein E, Drouin CA, Lapointe L, Boudreau M, Meloche C, Drouin R, Hudson TJ, Drapeau P, Cossette P . Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord . PLOS Genetics . 4 . 12 . e1000296 . Dec 2008 . 19057675 . 2585812 . 10.1371/journal.pgen.1000296 . Van Heyningen . Veronica . free .
5. Fölsch H, Ohno H, Bonifacino JS, Mellman I . A novel clathrin adaptor complex mediates basolateral targeting in polarized epithelial cells . Cell . 99 . 2 . 189–98 . Oct 1999 . 10535737 . 10.1016/S0092-8674(00)81650-5 . 15288582 . free .
6. Page LJ, Robinson MS . Targeting signals and subunit interactions in coated vesicle adaptor complexes . The Journal of Cell Biology . 131 . 3 . 619–30 . Nov 1995 . 7593184 . 2120623 . 10.1083/jcb.131.3.619 .
7. Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D . Large-scale mapping of human protein-protein interactions by mass spectrometry . Molecular Systems Biology . 3 . 1 . 89 . 2007 . 17353931 . 1847948 . 10.1038/msb4100134 .