Protein-coding gene in the species Homo sapiens
AP-1 complex subunit sigma-1A is aprotein that in humans is encoded by theAP1S1 gene .[ 5] [ 6] [ 7]
The protein encoded by this gene is part of the clathrin coat assembly complex which linksclathrin 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 familialMEDNIK syndrome described in 2008.[ 8]
AP1S1 has been shown tointeract withAP1G1 [ 6] [ 9] [ 10] RAB10 .[ 11]
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