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MGP003741

UniProt Annotations

Entry Information
Gene Nameadaptor-related protein complex 1, sigma 2 subunit
Protein EntryAP1S2_HUMAN
UniProt IDP56377
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P56377-1; Sequence=Displayed; Name=2; IsoId=P56377-2; Sequence=VSP_053671, VSP_053672; Note=No experimental confirmation available.;
DiseaseMental retardation, X-linked, syndromic 5 (MRXS5) [MIM:304340]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRXS5 is characterized by highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain, both between and within families. {ECO:0000269|PubMed:17186471}. 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.
Sequence CautionSequence=AAG44595.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the adaptor complexes small subunit family. {ECO:0000305}.
Subcellular LocationGolgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. 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). Binds to MUC1.
Tissue SpecificityWidely expressed.
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