AP4M1
entrez
9179
canonical
uniprot
O00189
canonical
ensembl
ENSG00000221838
resolver
ensp
ENSP00000352603
resolver
ensp
ENSP00000393723
resolver
ensp
ENSP00000401613
resolver
ensp
ENSP00000403663
resolver
ensp
ENSP00000412185
resolver
ensp
ENSP00000518888
resolver
ensp
ENSP00000519097
resolver
ensp
ENSP00000577454
resolver
ensp
ENSP00000577455
resolver
ensp
ENSP00000589044
resolver
ensp
ENSP00000589046
resolver
ensp
ENSP00000680920
resolver
enst
ENST00000359593
resolver
enst
ENST00000421755
resolver
enst
ENST00000429084
resolver
enst
ENST00000438383
resolver
enst
ENST00000445295
resolver
enst
ENST00000713591
resolver
enst
ENST00000713791
resolver
enst
ENST00000907395
resolver
enst
ENST00000907396
resolver
enst
ENST00000918985
resolver
genesymbol
AP4M1
resolver
genesymbol_syn
MUARP2
resolver
hgnc
HGNC:574
resolver
uniprot
C9JC87
resolver
uniprot
C9JWL4
resolver
uniprot
D6W5U1
resolver
uniprot
H7C0A0
resolver
uniprot
Q8WV65
resolver
uniprot
Q9UHK9
resolver
uniprot_entry
AP4M1_HUMAN
resolver
uniprot_entry
C9JC87_HUMAN
resolver
uniprot_entry
C9JWL4_HUMAN
resolver
uniprot_entry
H7C0A0_HUMAN
resolver
uniprot_sec
D6W5U1
resolver
uniprot_sec
Q8WV65
resolver
uniprot_sec
Q9UHK9
resolver
amino_acid_sequence
MISQFFILSSKGDPLIYKDFRGDSGGRDVAELFYRKLTGLPGDESPVVMHHHGRHFIHIRHSGLYLVVTTSENVSPFSLLELLSRLATLLGDYCGSLGEGTISRNVALVYELLDEVLDYGYVQTTSTEMLRNFIQTEAVVSKPFSLFDLSSVGLFGAETQQSKVAPSSAASRPVLSSRSDQSQKNEVFLDVVERLSVLIASNGSLLKVDVQGEIRLKSFLPSGSEMRIGLTEEFCVGKSELRGYGPGIRVDEVSFHSSVNLDEFESHRILRLQPPQGELTVMRYQLSDDLPSPLPFRLFPSVQWDRGSGRLQVYLKLRCDLLSKSQALNVRLHLPLPRGVVSLSQELSSPEQKAELAEGALRWDLPRVQGGSQLSGLFQMDVPGPPGPPSHGLSTSASPLGLGPASLSFELPRHTCSGLQVRFLRLAFRPCGNANPHKWVRHLSHSDAYVIRI
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 50, autosomal recessive (SPG50) [MIM:612936]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG50 affected individuals present postnatally with early infantile hypotonia, delayed psychomotor development, strabismus, lack of independent walking and severe intellectual disability. They develop progressive spasticity of all limbs with generalized hypertonia, hyperreflexia, and extensor plantar responses by the end of the first year of life. Speech is absent or limited. Pseudobulbar signs, such as drooling, stereotypic laughter, and exaggerated jaw jerk, are part of the clinical picture. {ECO:0000269|PubMed:19559397}. 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, PubMed:11139587, PubMed:11802162, PubMed:20230749). 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 (PubMed:11139587, PubMed:20230749). It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons (By similarity). Within AP-4, the mu-type subunit AP4M1 is directly involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos (PubMed:10436028, PubMed:11139587, PubMed:20230749, PubMed:26544806). The adaptor protein complex 4 (AP-4) may also recognize other types of sorting signal (By similarity). {ECO:0000250|UniProtKB:E2RED8, ECO:0000250|UniProtKB:Q2PWT8, ECO:0000250|UniProtKB:Q9JKC7, ECO:0000269|PubMed:10066790, ECO:0000269|PubMed:10436028, ECO:0000269|PubMed:11139587, ECO:0000269|PubMed:11802162, ECO:0000269|PubMed:20230749, ECO:0000269|PubMed:26544806}.
uniprot
proteins
mass_dalton
49977
uniprot
proteins
mutagenesis
MUTAGEN 255; /note="F->A: Abolishes interaction with APP."; /evidence="ECO:0000269|PubMed:20230749"; MUTAGEN 283; /note="R->D: Strongly reduced interaction with APP."; /evidence="ECO:0000269|PubMed:20230749
uniprot
proteins
protein_family
Adaptor complexes medium subunit family
uniprot
proteins
pubmed
10066790
uniprot
proteins
pubmed
10436028
uniprot
proteins
pubmed
11139587
uniprot
proteins
pubmed
11802162
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19559397
uniprot
proteins
pubmed
20230749
uniprot
proteins
pubmed
26544806
uniprot
proteins
pubmed
29180427
uniprot
proteins
pubmed
32073997
uniprot
proteins
pubmed
9013859
uniprot
proteins
sequence_length
453
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:20230749, ECO:0000269|PubMed:29180427, ECO:0000269|PubMed:32073997}; Peripheral membrane protein {ECO:0000305|PubMed:32073997}. Early endosome {ECO:0000269|PubMed:20230749}. Note=Found in soma and dendritic shafts of neuronal cells. {ECO:0000250|UniProtKB:Q2PWT8}.
uniprot
proteins