AP1S1
entrez
1174
canonical
uniprot
P61966
canonical
ensembl
ENSG00000106367
resolver
ensp
ENSP00000336666
resolver
genesymbol
AP1S1
resolver
genesymbol_syn
AP19
resolver
genesymbol_syn
CLAPS1
resolver
hgnc
HGNC:559
resolver
uniprot
B2R5D8
resolver
uniprot
P82267
resolver
uniprot
Q00382
resolver
uniprot
Q53YA7
resolver
uniprot
Q9BTN4
resolver
uniprot
Q9UDW9
resolver
uniprot_entry
AP1S1_HUMAN
resolver
uniprot_sec
B2R5D8
resolver
uniprot_sec
P82267
resolver
uniprot_sec
Q00382
resolver
uniprot_sec
Q53YA7
resolver
uniprot_sec
Q9BTN4
resolver
uniprot_sec
Q9UDW9
resolver
amino_acid_sequence
MMRFMLLFSRQGKLRLQKWYLATSDKERKKMVRELMQVVLARKPKMCSFLEWRDLKVVYKRYASLYFCCAIEGQDNELITLELIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLMGGDVQDTSKKSVLKAIEQADLLQEEDESPRSVLEEMGLA
uniprot
proteins
disease_involvement
DISEASE: MEDNIK syndrome (MEDNIK) [MIM:609313]: A disorder characterized by erythematous skin lesions and hyperkeratosis, severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss, together with elevated very-long-chain fatty acids and severe congenital diarrhea. {ECO:0000269|PubMed:19057675}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. {ECO:0000269|PubMed:9733768}.
uniprot
proteins
mass_dalton
18733
uniprot
proteins
protein_family
Adaptor complexes small subunit family
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16548883
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19057675
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
9733768
uniprot
proteins
sequence_length
158
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:9733768}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:9733768}; Peripheral membrane protein {ECO:0000269|PubMed:9733768}; Cytoplasmic side {ECO:0000269|PubMed:9733768}. Membrane, clathrin-coated pit {ECO:0000269|PubMed:9733768}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
uniprot
proteins