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InnateDB Protein
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IDBP-59080.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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AP2S1
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Protein Name
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adaptor-related protein complex 2, sigma 1 subunit
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Synonyms
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AP17; CLAPS2; FBH3; FBHOk; HHC3;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000263271
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InnateDB Gene
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IDBG-59076 (AP2S1)
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Protein Structure
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| Function |
Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein Transport via Transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin- coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L-[LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif (By similarity). May also play a role in extracellular calcium homeostasis. {ECO:0000250, ECO:0000269PubMed:14745134, ECO:0000269PubMed:15473838, ECO:0000269PubMed:19033387, ECO:0000269PubMed:23222959}.
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| Subcellular Localization |
Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO:0000250}.
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| Disease Associations |
Hypocalciuric hypercalcemia, familial 3 (HHC3) [MIM:600740]: 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. {ECO:0000269PubMed:23222959}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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| Tissue Specificity |
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| Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
| Experimentally validated |
| Total |
18
[view]
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| Protein-Protein |
17
[view]
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| Protein-DNA |
1
[view]
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| Protein-RNA |
0
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| DNA-DNA |
0
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| RNA-RNA |
0
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| DNA-RNA |
0
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| Predicted by orthology |
| Total |
1 [view]
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Molecular Function |
| Accession |
GO Term |
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GO:0008565
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protein transporter activity
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| Biological Process |
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| Cellular Component |
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| PDB ID |
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| InterPro |
IPR011012
Longin-like domain
IPR016635
Adaptor protein complex, sigma subunit
IPR022775
AP complex, mu/sigma subunit
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| PFAM |
PF01217
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| PRINTS |
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| PIRSF |
PIRSF015588
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| SMART |
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| TIGRFAMs |
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| Modification |
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| SwissProt |
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| PhosphoSite |
PhosphoSite-P53680
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| TrEMBL |
X6R390
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| UniProt Splice Variant |
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| Entrez Gene |
1175
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| UniGene |
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| RefSeq |
NP_001288007
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| HUGO |
HGNC:565
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| OMIM |
602242
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| CCDS |
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| HPRD |
03762
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| IMGT |
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| EMBL |
AC008622
AC098794
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| GenPept |
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Version 5.4