AP2S1
entrez
1175
canonical
uniprot
P53680
canonical
ensembl
ENSG00000042753
resolver
ensp
ENSP00000263270
resolver
ensp
ENSP00000263271
resolver
ensp
ENSP00000470176
resolver
ensp
ENSP00000470898
resolver
ensp
ENSP00000471340
resolver
enst
ENST00000352203
resolver
enst
ENST00000599990
resolver
enst
ENST00000601498
resolver
genesymbol
AP2S1
resolver
genesymbol_syn
AP17
resolver
genesymbol_syn
CLAPS2
resolver
hgnc
HGNC:565
resolver
uniprot
B2R4Z4
resolver
uniprot
M0QYZ2
resolver
uniprot
M0R0N4
resolver
uniprot
O75977
resolver
uniprot
Q6PK67
resolver
uniprot
X6R390
resolver
uniprot_entry
AP2S1_HUMAN
resolver
uniprot_entry
M0QYZ2_HUMAN
resolver
uniprot_entry
M0R0N4_HUMAN
resolver
uniprot_entry
X6R390_HUMAN
resolver
uniprot_sec
B2R4Z4
resolver
uniprot_sec
O75977
resolver
uniprot_sec
Q6PK67
resolver
amino_acid_sequence
MIRFILIQNRAGKTRLAKWYMQFDDDEKQKLIEEVHAVVTVRDAKHTNFVEFRNFKIIYRRYAGLYFCICVDVNDNNLAYLEAIHNFVEVLNEYFHNVCELDLVFNFYKVYTVVDEMFLAGEIRETSQTKVLKQLLMLQSLE
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:23222959, ECO:0000269|PubMed:24081735}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:14745134, ECO:0000269|PubMed:15473838, ECO:0000269|PubMed:19033387, ECO:0000269|PubMed:23222959}.
uniprot
proteins
mass_dalton
17018
uniprot
proteins
protein_family
Adaptor complexes small subunit family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14745134
uniprot
proteins
pubmed
15473838
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19033387
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23222959
uniprot
proteins
pubmed
24081735
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
33859415
uniprot
proteins
pubmed
9040778
uniprot
proteins
pubmed
9767099
uniprot
proteins
sequence_length
142
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P63010}. Membrane, coated pit {ECO:0000269|PubMed:33859415}; Peripheral membrane protein {ECO:0000305|PubMed:33859415}; Cytoplasmic side {ECO:0000305|PubMed:33859415}. 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|UniProtKB:P63010}.
uniprot
proteins