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Protein-coding gene in the species Homo sapiens
AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene .[5] [6] [7]
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.[7]
A mutation in the AP1S1 causes the rare familial MEDNIK syndrome described in 2008.[8]
AP1S1 has been shown to interact with AP1G1 [6] [9] [10] RAB10 .[11]
^ a b c GRCh38: Ensembl release 89: ENSG00000106367 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004849 – Ensembl , May 2017^ "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 . S2CID 15288582 . ^ ^ 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 (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry" . Molecular Systems Biology . 3 (1): 89. doi :10.1038/msb4100134 . PMC 1847948 PMID 17353931 .
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