AP2M1
entrez
1173
canonical
uniprot
Q96CW1
canonical
ensembl
ENSG00000161203
resolver
ensp
ENSP00000292807
resolver
ensp
ENSP00000371894
resolver
ensp
ENSP00000403362
resolver
enst
ENST00000411763
resolver
genesymbol
AP2M1
resolver
genesymbol_syn
CLAPM1
resolver
genesymbol_syn
KIAA0109
resolver
hgnc
HGNC:564
resolver
uniprot
A6NE12
resolver
uniprot
B4DNB9
resolver
uniprot
D3DNT1
resolver
uniprot
E9PFW3
resolver
uniprot
P20172
resolver
uniprot
P53679
resolver
uniprot_entry
AP2M1_HUMAN
resolver
uniprot_entry
B4DNB9_HUMAN
resolver
uniprot_entry
E9PFW3_HUMAN
resolver
uniprot_sec
A6NE12
resolver
uniprot_sec
D3DNT1
resolver
uniprot_sec
P20172
resolver
uniprot_sec
P53679
resolver
amino_acid_sequence
MIGGLFIYNHKGEVLISRVYRDDIGRNAVDAFRVNVIHARQQVRSPVTNIARTSFFHVKRSNIWLAAVTKQNVNAAMVFEFLYKMCDVMAAYFGKISEENIKNNFVLIYELLDEILDFGYPQNSETGALKTFITQQGIKSQHQTKEEQSQITSQVTGQIGWRREGIKYRRNELFLDVLESVNLLMSPQGQVLSAHVSGRVVMKSYLSGMPECKFGMNDKIVIEKQGKGTADETSKSGKQSIAIDDCTFHQCVRLSKFDSERSISFIPPDGEFELMRYRTTKDIILPFRVIPLVREVGRTKLEVKVVIKSNFKPSLLAQKIEVRIPTPLNTSGVQVICMKGKAKYKASENAIVWKIKRMAGMKESQISAEIELLPTNDKKKWARPPISMNFEVPFAPSGLKVRYLKVFEPKLNYSDHDVIKWVRYIGRSGIYETRC
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 60, with seizures (MRD60) [MIM:618587]: An autosomal dominant disorder characterized by global developmental delay apparent in the first six months of life, followed by onset of seizures between 21 months and 4 years. Disease features include moderate-to-severe intellectual disability, poor speech, delayed walking, and ataxia. {ECO:0000269|PubMed:31104773}. 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) (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). 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 (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). 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 (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis (PubMed:16581796). AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface (PubMed:12694563, PubMed:12952941, PubMed:14745134, PubMed:14985334, PubMed:15473838, PubMed:31104773). 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 (By similarity). AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non-clathrin pathway (PubMed:19033387). During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 mu subunit binds to transmembrane cargo proteins; it recognizes the Y-X-X-Phi motifs (By similarity). The surface region interacting with to the Y-X-X-Phi motif is inaccessible in cytosolic AP-2, but becomes accessible through a conformational change following phosphorylation of AP-2 mu subunit at Thr-156 in membrane-associated AP-2 (PubMed:11877457). The membrane-specific phosphorylation event appears to involve assembled clathrin which activates the AP-2 mu kinase AAK1 (PubMed:11877457). Plays a role in endocytosis of frizzled family members upon Wnt signaling (By similarity). {ECO:0000250|UniProtKB:P84092, ECO:0000269|PubMed:11877457, ECO:0000269|PubMed:12694563, ECO:0000269|PubMed:12952941, ECO:0000269|PubMed:14745134, ECO:0000269|PubMed:14985334, ECO:0000269|PubMed:15473838, ECO:0000269|PubMed:16581796, ECO:0000269|PubMed:19033387, ECO:0000269|PubMed:23676497, ECO:0000269|PubMed:31104773}.
uniprot
proteins
mass_dalton
49655
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Thr-156 increases the affinity of the AP-2 complex for cargo membrane proteins during the initial stages of endocytosis. {ECO:0000269|PubMed:11877457}.
uniprot
proteins
protein_family
Adaptor complexes medium subunit family
uniprot
proteins
pubmed
10910768
uniprot
proteins
pubmed
11583591
uniprot
proteins
pubmed
11877457
uniprot
proteins
pubmed
12032142
uniprot
proteins
pubmed
12694563
uniprot
proteins
pubmed
12952941
uniprot
proteins
pubmed
14745134
uniprot
proteins
pubmed
14985334
uniprot
proteins
pubmed
15473838
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16581796
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17643423
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19033387
uniprot
proteins
pubmed
19419997
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23529131
uniprot
proteins
pubmed
23676497
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25066864
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31104773
uniprot
proteins
pubmed
33436498
uniprot
proteins
pubmed
7788527
uniprot
proteins
sequence_length
435
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:31104773}. Membrane, coated pit {ECO:0000269|PubMed:31104773}; 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|UniProtKB:P84091}.
uniprot
proteins