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MGP000575

UniProt Annotations

Entry Information
Gene Nameadaptor-related protein complex 1, sigma 1 subunit
Protein EntryAP1S1_HUMAN
UniProt IDP61966
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P61966-1, Q00382-1; Sequence=Displayed; Name=2; IsoId=P61966-2, Q00382-2; Sequence=VSP_000171;
DiseaseMental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (MEDNIK) [MIM:609313]: A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea. {ECO:0000269|PubMed:19057675}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionSubunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. {ECO:0000269|PubMed:9733768}.
InductionUp-regulated in response to enterovirus 71 (EV71) infection. {ECO:0000269|PubMed:16548883}.
Sequence CautionSequence=AAD45829.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
SimilarityBelongs to the adaptor complexes small subunit family. {ECO:0000305}.
Subcellular LocationGolgi apparatus {ECO:0000269|PubMed:9733768}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:9733768}; Peripheral membrane protein {ECO:0000269|PubMed:9733768}; Cytoplasmic side {ECO:0000269|PubMed:9733768}. Membrane, clathrin-coated pit {ECO:0000269|PubMed:9733768}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
SubunitAdaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta- type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3).
Tissue SpecificityWidely expressed. {ECO:0000269|PubMed:9733768}.
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