RBCC Red Blood Cell Collection

AP2S1_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Membrane associated protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: AP2S1 , AP17, CLAPS2
Protein names and data: AP2S1_HUMAN , AP-2 complex subunit sigma , Adapter-related protein complex 2 subunit sigma; Adaptor protein complex AP-2 subunit sigma; Clathrin assembly protein 2 sigma small chain; Clathrin coat assembly protein AP17; Clathrin coat-associated protein AP17; HA2 17 kDa subunit; Plasma membrane adaptor AP-2 17 kDa protein; Sigma2-adaptin Lenght: 142 a.a.
Mass: 17018 Da
fasta formatted sequence
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.
Disease: ( OMIM: 600740 602242 ) 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: 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 (By similarity).

Genetic variants

15 - 15 R -> C (in HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild- type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium). VAR_069570
15 - 15 R -> H (in HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild- type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium). VAR_069571
15 - 15 R -> L (in HHC3; there is a rightward shift in Ca(2+)concentration-response curves with the mutant compared to wild- type, indicating a decrease in the sensitivity of cells expressing CASR to extracellular calcium). VAR_069572

Database cross-references

UniProt: P53680
Ensembl: ENST00000263270
Ensembl: ENST00000601649
MIM: 600740
MIM: 602242
neXtProt: NX_P53680
Antibodypedia: P53680 (may not find the protein thus also not any antibody)
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