AP4B1
entrez
10717
canonical
uniprot
Q9Y6B7
canonical
ensembl
ENSG00000134262
resolver
ensp
ENSP00000256658
resolver
ensp
ENSP00000358577
resolver
ensp
ENSP00000358580
resolver
ensp
ENSP00000358582
resolver
ensp
ENSP00000358584
resolver
ensp
ENSP00000393622
resolver
ensp
ENSP00000518949
resolver
ensp
ENSP00000533179
resolver
ensp
ENSP00000533183
resolver
ensp
ENSP00000533189
resolver
ensp
ENSP00000605593
resolver
ensp
ENSP00000605595
resolver
ensp
ENSP00000605602
resolver
ensp
ENSP00000605603
resolver
ensp
ENSP00000640454
resolver
ensp
ENSP00000640458
resolver
ensp
ENSP00000682847
resolver
enst
ENST00000369564
resolver
enst
ENST00000369567
resolver
enst
ENST00000432415
resolver
enst
ENST00000713647
resolver
enst
ENST00000935534
resolver
enst
ENST00000935536
resolver
enst
ENST00000935543
resolver
enst
ENST00000970395
resolver
genesymbol
AP4B1
resolver
hgnc
HGNC:572
resolver
uniprot
A0AAQ5BGI8
resolver
uniprot
B1ALD0
resolver
uniprot
B1ALD1
resolver
uniprot
B1ALD3
resolver
uniprot
B3KSJ4
resolver
uniprot
B4DTG3
resolver
uniprot
B7Z4X3
resolver
uniprot
Q59EJ4
resolver
uniprot
Q96CL6
resolver
uniprot_entry
A0AAQ5BGI8_HUMAN
resolver
uniprot_entry
AP4B1_HUMAN
resolver
uniprot_entry
B1ALD1_HUMAN
resolver
uniprot_entry
B1ALD3_HUMAN
resolver
uniprot_entry
B3KSJ4_HUMAN
resolver
uniprot_entry
B4DTG3_HUMAN
resolver
uniprot_sec
B1ALD0
resolver
uniprot_sec
B7Z4X3
resolver
uniprot_sec
Q59EJ4
resolver
uniprot_sec
Q96CL6
resolver
amino_acid_sequence
MPYLGSEDVVKELKKALCNPHIQADRLRYRNVIQRVIRYMTQGLDMSGVFMEMVKASATVDIVQKKLVYLYMCTYAPLKPDLALLAINTLCKDCSDPNPMVRGLALRSMCSLRMPGVQEYIQQPILNGLRDKASYVRRVAVLGCAKMHNLHGDSEVDGALVNELYSLLRDQDPIVVVNCLRSLEEILKQEGGVVINKPIAHHLLNRMSKLDQWGQAEVLNFLLRYQPRSEEELFDILNLLDSFLKSSSPGVVMGATKLFLILAKMFPHVQTDVLVRVKGPLLAACSSESRELCFVALCHVRQILHSLPGHFSSHYKKFFCSYSEPHYIKLQKVEVLCELVNDENVQQVLEELRGYCTDVSADFAQAAIFAIGGIARTYTDQCVQILTELLGLRQEHITTVVVQTFRDLVWLCPQCTEAVCQALPGCEENIQDSEGKQALIWLLGVHGERIPNAPYVLEDFVENVKSETFPAVKMELLTALLRLFLSRPAECQDMLGRLLYYCIEEEKDMAVRDRGLFYYRLLLVGIDEVKRILCSPKSDPTLGLLEDPAERPVNSWASDFNTLVPVYGKAHWATISKCQGAERCDPELPKTSSFAASGPLIPEENKERVQELPDSGALMLVPNRQLTADYFEKTWLSLKVAHQQVLPWRGEFHPDTLQMALQVVNIQTIAMSRAGSRPWKAYLSAQDDTGCLFLTELLLEPGNSEMQISVKQNEARTETLNSFISVLETVIGTIEEIKS
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 47, autosomal recessive (SPG47) [MIM:614066]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG47 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe intellectual disability with poor or absent speech development. {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
83260
uniprot
proteins
mutagenesis
MUTAGEN 635; /note="W->A: Decreased interaction with TEPSIN."; /evidence="ECO:0000269|PubMed:26542808"; MUTAGEN 669; /note="I->A: Decreased interaction with TEPSIN; when associated with S-670."; /evidence="ECO:0000269|PubMed:26756312"; MUTAGEN 670; /note="A->S: Decreased interaction with TEPSIN; when associated with A-669."; /evidence="ECO:0000269|PubMed:26756312"; MUTAGEN 682; /note="Y->A,V: Decreased interaction with TEPSIN."; /evidence="ECO:0000269|PubMed:26542808, ECO:0000269|PubMed:26756312
uniprot
proteins
protein_family
Adaptor complexes large subunit family
uniprot
proteins
pubmed
10066790
uniprot
proteins
pubmed
10436028
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21620353
uniprot
proteins
pubmed
22472443
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26542808
uniprot
proteins
pubmed
26756312
uniprot
proteins
sequence_length
739
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:10066790, ECO:0000269|PubMed:10436028, ECO:0000269|PubMed:22472443}; Peripheral membrane protein {ECO:0000269|PubMed:10066790}.
uniprot
proteins