AP4S1
entrez
11154
canonical
uniprot
Q9Y587
canonical
ensembl
ENSG00000100478
resolver
ensp
ENSP00000334484
resolver
ensp
ENSP00000438170
resolver
ensp
ENSP00000450768
resolver
ensp
ENSP00000451479
resolver
ensp
ENSP00000451609
resolver
ensp
ENSP00000452383
resolver
ensp
ENSP00000750663
resolver
genesymbol
AP4S1
resolver
hgnc
HGNC:575
resolver
uniprot
G3V2N8
resolver
uniprot
Q6IAQ4
resolver
uniprot
Q86U36
resolver
uniprot
Q9BVE7
resolver
uniprot_entry
AP4S1_HUMAN
resolver
uniprot_sec
G3V2N8
resolver
uniprot_sec
Q6IAQ4
resolver
uniprot_sec
Q86U36
resolver
uniprot_sec
Q9BVE7
resolver
amino_acid_sequence
MIKFFLMVNKQGQTRLSKYYEHVDINKRTLLETEVIKSCLSRSNEQCSFIEYKDFKLIYRQYAALFIVVGVNDTENEMAIYEFIHNFVEVLDEYFSRVSELDIMFNLDKVHIILDEMVLNGCIVETNRARILAPLLILDKMSES
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 52, autosomal recessive (SPG52) [MIM:614067]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development. Some patients may have seizures. {ECO:0000269|PubMed:21620353}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal (Probable). {ECO:0000269|PubMed:10066790, ECO:0000269|PubMed:10436028, ECO:0000305|PubMed:10066790, ECO:0000305|PubMed:10436028}.
uniprot
proteins
mass_dalton
17005
uniprot
proteins
protein_family
Adaptor complexes small subunit family
uniprot
proteins
pubmed
10066790
uniprot
proteins
pubmed
10436028
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21620353
uniprot
proteins
sequence_length
144
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000305|PubMed:10436028}; Peripheral membrane protein {ECO:0000305}.
uniprot
proteins