호모 사피엔스 종의 단백질 코드 유전자
AP-1 복합 서브유닛 시그마-1A 는 사람에게서 AP1S1 [5] [6] [7] 단백질 이다.
기능. 이 유전자에 의해 암호화된 단백질은 클래트린을 코팅된 소포의 수용체와 연결 하는 클래트린 외피 집합체 복합체의 일부입니다. 이 소포들은 세포내막증 및 골지처리에 관여한다. 이 단백질은 베타 프라임 아답틴, 감마 아답틴 및 중간 사슬 AP47과 함께 골지 소포에 위치한 AP-1 조립 단백질 복합체를 형성한다. 이 유전자의 두 가지 대체 스플라이스된 전사 변이가 [7]
AP1S1의 돌연변이는 2008년에 [8] 가족성 MEDNIK 증후군을 일으킨다.
상호 작용 AP1S1은 AP1G1 [6] [9] [10] RAB10과 [11] 것 으로 나타났습니다.
레퍼런스 ^ a b c GRCh38: 앙상블 릴리즈 89: ENSG00000106367 - 앙상블 , 2017년 5월^ a b c GRCm38: 앙상블 릴리즈 89: ENSMUSG00000004849 - 앙상블 , 2017년 5월^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Peyrard M, Parveneh S, Lagercrantz S, Ekman M, Fransson I, Sahlén S, Dumanski JP (Jun 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 (Sep 1998). "Identification and characterization of novel clathrin adaptor-related proteins" . The Journal of Biological Chemistry . 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 (Dec 2008). Van Heyningen V (ed.). "Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord" . PLOS Genetics . 4 (12): e1000296. doi :10.1371/journal.pgen.1000296 . PMC 2585812 PMID 19057675 . ^ Fölsch H, Ohno H, Bonifacino JS, Mellman I (Oct 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 . 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"[The HIV nef and the Kaposi-sarcoma-associated virus K3/K5 proteins: "parasites"of the endocytosis pathway]" . Médecine/Sciences . 19 (1): 100–6. doi :10.1051/medsci/2003191100 PMID 12836198 . Kirchhausen T, Davis AC, Frucht S, Greco BO, Payne GS, Tubb B (Jun 1991). "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. doi :10.1016/S0021-9258(18)99141-6 PMID 2040623 . Craig HM, Pandori MW, Guatelli JC (Sep 1998). "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. Bibcode :1998PNAS...9511229C . doi :10.1073/pnas.95.19.11229 PMC 21624 PMID 9736718 . Bresnahan PA, Yonemoto W, Ferrell S, Williams-Herman D, Geleziunas R, Greene WC (Nov 1998). "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. doi :10.1016/S0960-9822(07)00517-9 PMID 9811606 . S2CID 16541580 . Greenberg M, DeTulleo L, Rapoport I, Skowronski J, Kirchhausen T (Nov 1998). "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. doi :10.1016/S0960-9822(07)00518-0 PMID 9811611 . S2CID 14272751 . Sanger Centre, The; Washington University Genome Sequencing Cente, The (Nov 1998). "Toward a complete human genome sequence" . Genome Research . 8 (11): 1097–108. doi :10.1101/gr.8.11.1097 PMID 9847074 . Berlioz-Torrent C, Shacklett BL, Erdtmann L, Delamarre L, Bouchaert I, Sonigo P, Dokhelar MC, Benarous R (Feb 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" . Journal of Virology . 73 (2): 1350–61. doi :10.1128/JVI.73.2.1350-1361.1999 . PMC 103959 PMID 9882340 . Fölsch H, Ohno H, Bonifacino JS, Mellman I (Oct 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 . S2CID 15288582 . Wyss S, Berlioz-Torrent C, Boge M, Blot G, Höning S, Benarous R, Thali M (Mar 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]" . Journal of Virology . 75 (6): 2982–92. doi :10.1128/JVI.75.6.2982-2992.2001 . PMC 115924 PMID 11222723 . Boehm M, Aguilar RC, Bonifacino JS (Nov 2001). "Functional and physical interactions of the adaptor protein complex AP-4 with ADP-ribosylation factors (ARFs)" . The EMBO Journal . 20 (22): 6265–76. doi :10.1093/emboj/20.22.6265 . PMC 125733 PMID 11707398 . Janvier K, Craig H, Hitchin D, Madrid R, Sol-Foulon N, Renault L, Cherfils J, Cassel D, Benichou S, Guatelli J (Mar 2003). "HIV-1 Nef stabilizes the association of adaptor protein complexes with membranes" . The Journal of Biological Chemistry . 278 (10): 8725–32. doi :10.1074/jbc.M210115200 PMID 12486136 .
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