Entity Details

Primary name AP2S1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP53680
EntryNameAP2S1_HUMAN
FullNameAP-2 complex subunit sigma
TaxID9606
Evidenceevidence at protein level
Length142
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesAP2S1

GO terms

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GOName
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0006886 intracellular protein transport
GO:0016192 vesicle-mediated transport
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II
GO:0030100 regulation of endocytosis
GO:0030122 AP-2 adaptor complex
GO:0030666 endocytic vesicle membrane
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0032802 low-density lipoprotein particle receptor catabolic process
GO:0034383 low-density lipoprotein particle clearance
GO:0035615 clathrin adaptor activity
GO:0036020 endolysosome membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0045334 clathrin-coated endocytic vesicle
GO:0048013 ephrin receptor signaling pathway
GO:0048268 clathrin coat assembly
GO:0050690 regulation of defense response to virus by virus
GO:0060071 Wnt signaling pathway, planar cell polarity pathway
GO:0061024 membrane organization
GO:0072583 clathrin-dependent endocytosis

Subcellular Location

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Subcellular Location
Cell membrane
Membrane

Domains

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DomainNameCategoryType
IPR000804 Clathrin adaptor complex, small chainSiteConserved site
IPR011012 Longin-like domain superfamilyFamilyHomologous superfamily
IPR016635 Adaptor protein complex, sigma subunitFamilyFamily
IPR022775 AP complex, mu/sigma subunitDomainDomain
IPR027156 AP-2 complex subunit sigmaFamilyFamily

Diseases

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Disease IDSourceNameDescription
600740 OMIMHypocalciuric hypercalcemia, familial 3 (HHC3)A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. The disease is caused by variants affecting the gene represented in this entry.