AP1S1

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Template:Short description Template:Cs1 config An Error has occurred retrieving Wikidata item for infobox 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[2][5][6] and RAB10.[7]

References

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  1. ^ Page Module:Citation/CS1/styles.css has no content.Peyrard M, Parveneh S, Lagercrantz S, Ekman M, Fransson I, Sahlén S, et al. (Jun 1998). "Cloning, expression pattern, and chromosomal assignment to 16q23 of the human gamma-adaptin gene (ADTG)". Genomics. 50 (2): 275–280. doi:10.1006/geno.1998.5289. PMID 9653655.
  2. ^ a b Page Module:Citation/CS1/styles.css has no content.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): 24693–24700. doi:10.1074/jbc.273.38.24693. PMID 9733768.
  3. ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: AP1S1 adaptor-related protein complex 1, sigma 1 subunit".
  4. ^ Page Module:Citation/CS1/styles.css has no content.Montpetit A, Côté S, Brustein E, Drouin CA, Lapointe L, Boudreau M, et al. (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. ^ Page Module:Citation/CS1/styles.css has no content.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): 189–198. doi:10.1016/S0092-8674(00)81650-5. PMID 10535737. S2CID 15288582.
  6. ^ Page Module:Citation/CS1/styles.css has no content.Page LJ, Robinson MS (Nov 1995). "Targeting signals and subunit interactions in coated vesicle adaptor complexes". The Journal of Cell Biology. 131 (3): 619–630. doi:10.1083/jcb.131.3.619. PMC 2120623. PMID 7593184.
  7. ^ Page Module:Citation/CS1/styles.css has no content.Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (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

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