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PDB 1w63 EBI.jpg
Available structures
PDB Ortholog search: PDBe RCSB
Aliases AP1S1, AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A, WUGSC:H_DJ0747G18.2, adaptor related protein complex 1 sigma 1 subunit
External IDs MGI: 1098244 HomoloGene: 20342 GeneCards: 1174
RNA expression pattern
PBB GE AP1S1 205195 at tn.png

PBB GE AP1S1 205196 s at tn.png

PBB GE AP1S1 209635 at tn.png
More reference expression data
Species Human Mouse
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC) Chr 7: 101.15 – 101.16 Mb Chr 5: 137.03 – 137.05 Mb
PubMed search [1] [2]
View/Edit Human View/Edit Mouse

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]


AP1S1 has been shown to interact with AP1G1[2][5][6] and RAB10.[7]


  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "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 (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. 
  5. ^ 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. 
  6. ^ Page LJ, Robinson MS (Nov 1995). "Targeting signals and subunit interactions in coated vesicle adaptor complexes". The Journal of Cell Biology 131 (3): 619–30. doi:10.1083/jcb.131.3.619. PMC 2120623. PMID 7593184. 
  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 (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. 

Further reading[edit]