Neha Patil

AP1S1

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Species  Human
Entrez  1174
Human  Mouse
Ensembl  ENSG00000106367
AP1S1
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: AP1S1

AP-1 complex subunit sigma-1A is a protein that in humans is encoded by the AP1S1 gene.

Contents

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.

A mutation in the AP1S1 causes the rare familial MEDNIK syndrome described in 2008.

Interactions

AP1S1 has been shown to interact with AP1G1 and RAB10.

References

AP1S1 Wikipedia


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