AP1S2
entrez
8905
canonical
uniprot
P56377
canonical
ensembl
ENSG00000182287
resolver
ensp
ENSP00000328789
resolver
ensp
ENSP00000369645
resolver
ensp
ENSP00000389474
resolver
ensp
ENSP00000500066
resolver
ensp
ENSP00000500483
resolver
ensp
ENSP00000500695
resolver
ensp
ENSP00000500737
resolver
ensp
ENSP00000500798
resolver
ensp
ENSP00000500850
resolver
ensp
ENSP00000648479
resolver
ensp
ENSP00000714452
resolver
ensp
ENSP00000744530
resolver
enst
ENST00000380291
resolver
enst
ENST00000450644
resolver
enst
ENST00000479184
resolver
enst
ENST00000671830
resolver
enst
ENST00000672063
resolver
enst
ENST00000672987
resolver
enst
ENST00000673445
resolver
enst
ENST00000673591
resolver
genesymbol
AP1S2
resolver
hgnc
HGNC:560
resolver
uniprot
A0A5F9ZHW1
resolver
uniprot
A0A5F9ZHX2
resolver
uniprot
A0A5F9ZI43
resolver
uniprot
A6NH01
resolver
uniprot
B4DSU4
resolver
uniprot
H7BZG6
resolver
uniprot
O95326
resolver
uniprot
Q549M9
resolver
uniprot
Q9H2N6
resolver
uniprot_entry
A0A5F9ZHW1_HUMAN
resolver
uniprot_entry
A0A5F9ZHX2_HUMAN
resolver
uniprot_entry
A0A5F9ZI43_HUMAN
resolver
uniprot_entry
A6NH01_HUMAN
resolver
uniprot_entry
AP1S2_HUMAN
resolver
uniprot_entry
H7BZG6_HUMAN
resolver
uniprot_entry
Q549M9_HUMAN
resolver
uniprot_sec
B4DSU4
resolver
uniprot_sec
O95326
resolver
uniprot_sec
Q9H2N6
resolver
amino_acid_sequence
MQFMLLFSRQGKLRLQKWYVPLSDKEKKKITRELVQTVLARKPKMCSFLEWRDLKIVYKRYASLYFCCAIEDQDNELITLEIIHRYVELLDKYFGSVCELDIIFNFEKAYFILDEFLLGGEVQETSKKNVLKAIEQADLLQEEAETPRSVLEEIGLT
uniprot
proteins
disease_involvement
DISEASE: Pettigrew syndrome (PGS) [MIM:304340]: An X-linked syndrome characterized by intellectual disability and additional highly variable features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:17186471}. 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.
uniprot
proteins
mass_dalton
18615
uniprot
proteins
protein_family
Adaptor complexes small subunit family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15471854
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17186471
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
9733768
uniprot
proteins
sequence_length
157
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.
uniprot
proteins