AP1S1

Chr 7AR

adaptor related protein complex 1 subunit sigma 1

Also known as: AP19, CLAPS1, EKV3, MEDNIK, SIGMA1A

NCBI Gene: 1174 ENSG00000106367 UniProt: P61966 OMIM: 603531

The AP1S1 protein is a subunit of the clathrin-associated adaptor protein complex 1 that mediates protein sorting in the late-Golgi/trans-Golgi network and endosomes by recruiting clathrin to membranes and recognizing sorting signals in transmembrane cargo molecules. Mutations cause MEDNIK syndrome, a multisystem disorder affecting mental retardation, enteropathy, deafness, neuropathy, ichthyosis, and keratoderma. This condition follows autosomal recessive inheritance.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

MEDNIK syndromeMIM #609313

Clinical highlights

Gene-disease validity (ClinGen)

MEDNIK syndrome · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.86

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — AP1S1