AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.[1][2][3]
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 [edit]
AP1S1 has been shown to interact with AP1G1[2][5][6] and RAB10.[7]
References [edit]
- ^ Peyrard M, Parveneh S, Lagercrantz S, Ekman M, Fransson I, Sahlen S, Dumanski JP (October 1998). "Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG)". Genomics 50 (2): 275–80. doi:10.1006/geno.1998.5289. PMID 9653655.
- ^ a b Takatsu H, Sakurai M, Shin HW, Murakami K, Nakayama K (October 1998). "Identification and characterization of novel clathrin adaptor-related proteins". J Biol Chem 273 (38): 24693–700. doi:10.1074/jbc.273.38.24693. PMID 9733768.
- ^ a b "Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit".
- ^ Montpetit A, Côté S, Brustein E, Drouin CA, Lapointe L, Boudreau M, Meloche C, Drouin R, Hudson TJ, Drapeau P, Cossette P (December 2008). "Disruption of AP1S1, Causing a Novel Neurocutaneous Syndrome, Perturbs Development of the Skin and Spinal Cord". In Van Heyningen, Veronica. PLoS Genet. 4 (12): e1000296. doi:10.1371/journal.pgen.1000296. PMC 2585812. PMID 19057675.
- ^ Fölsch, H; Ohno H, Bonifacino J S, Mellman I (October 1999). "A novel clathrin adaptor complex mediates basolateral targeting in polarized epithelial cells". Cell (UNITED STATES) 99 (2): 189–98. doi:10.1016/S0092-8674(00)81650-5. ISSN 0092-8674. PMID 10535737.
- ^ Page, L J; Robinson M S (November 1995). "Targeting signals and subunit interactions in coated vesicle adaptor complexes". J. Cell Biol. (UNITED STATES) 131 (3): 619–30. doi:10.1083/jcb.131.3.619. ISSN 0021-9525. PMC 2120623. PMID 7593184.
- ^ Ewing, Rob M; Chu Peter, Elisma Fred, Li Hongyan, Taylor Paul, Climie Shane, McBroom-Cerajewski Linda, Robinson Mark D, O'Connor Liam, Li Michael, Taylor Rod, Dharsee Moyez, Ho Yuen, Heilbut Adrian, Moore Lynda, Zhang Shudong, Ornatsky Olga, Bukhman Yury V, Ethier Martin, Sheng Yinglun, Vasilescu Julian, Abu-Farha Mohamed, Lambert Jean-Philippe, Duewel Henry S, Stewart Ian I, Kuehl Bonnie, Hogue Kelly, Colwill Karen, Gladwish Katharine, Muskat Brenda, Kinach Robert, Adams Sally-Lin, Moran Michael F, Morin Gregg B, Topaloglou Thodoros, Figeys Daniel (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. (England) 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
Further reading [edit]
- Kirchhausen T (2000). "Clathrin.". Annu. Rev. Biochem. 69: 699–727. doi:10.1146/annurev.biochem.69.1.699. PMID 10966473.
- Geyer M, Fackler OT, Peterlin BM (2001). "Structure--function relationships in HIV-1 Nef.". EMBO Rep. 2 (7): 580–5. doi:10.1093/embo-reports/kve141. PMC 1083955. PMID 11463741.
- Bénichou S, Benmerah A (2003). "[The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway]". Med Sci (Paris) 19 (1): 100–6. doi:10.1051/medsci/2003191100. PMID 12836198.
- Kirchhausen T, Davis AC, Frucht S, et al. (1991). "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. 266 (17): 11153–7. PMID 2040623.
- Craig HM, Pandori MW, Guatelli JC (1998). "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. 95 (19): 11229–34. doi:10.1073/pnas.95.19.11229. PMC 21624. PMID 9736718.
- Bresnahan PA, Yonemoto W, Ferrell S, et al. (1999). "A dileucine motif in HIV-1 Nef acts as an internalization signal for CD4 downregulation and binds the AP-1 clathrin adaptor.". Curr. Biol. 8 (22): 1235–8. doi:10.1016/S0960-9822(07)00517-9. PMID 9811606.
- Greenberg M, DeTulleo L, Rapoport I, et al. (1999). "A dileucine motif in HIV-1 Nef is essential for sorting into clathrin-coated pits and for downregulation of CD4.". Curr. Biol. 8 (22): 1239–42. doi:10.1016/S0960-9822(07)00518-0. PMID 9811611.
- "Toward a complete human genome sequence.". Genome Res. 8 (11): 1097–108. 1999. doi:10.1101/gr.8.11.1097. PMID 9847074.
- Berlioz-Torrent C, Shacklett BL, Erdtmann L, et al. (1999). "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. 73 (2): 1350–61. PMC 103959. PMID 9882340.
- Fölsch H, Ohno H, Bonifacino JS, Mellman I (1999). "A novel clathrin adaptor complex mediates basolateral targeting in polarized epithelial cells.". Cell 99 (2): 189–98. doi:10.1016/S0092-8674(00)81650-5. PMID 10535737.
- Wyss S, Berlioz-Torrent C, Boge M, et al. (2001). "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. 75 (6): 2982–92. doi:10.1128/JVI.75.6.2982-2992.2001. PMC 115924. PMID 11222723.
- Boehm M, Aguilar RC, Bonifacino JS (2002). "Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs).". EMBO J. 20 (22): 6265–76. doi:10.1093/emboj/20.22.6265. PMC 125733. PMID 11707398.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Janvier K, Craig H, Hitchin D, et al. (2003). "HIV-1 Nef stabilizes the association of adaptor protein complexes with membranes.". J. Biol. Chem. 278 (10): 8725–32. doi:10.1074/jbc.M210115200. PMID 12486136.
- Hillier LW, Fulton RS, Fulton LA, et al. (2003). "The DNA sequence of human chromosome 7.". Nature 424 (6945): 157–64. doi:10.1038/nature01782. PMID 12853948.
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