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Details on Person UniProt:Q9UPM8 AP4E1

Class:IdReferenceGeneProduct:49324
_chainChangeLogchain:1-1137 added on Fri February 6 2015
_displayNameUniProt:Q9UPM8 AP4E1
_timestamp2024-11-03 19:35:06
chainchain:1-1137
checksum1784E886EC922875
commentFUNCTION 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).SUBUNIT Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1) (PubMed:10066790, PubMed:10436028). Interacts with TEPSIN (PubMed:26542808). Interacts with GRIA2; probably indirect it mediates the somatodendritic localization of GRIA2 in neurons (By similarity).INTERACTION Widely expressed.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the adaptor complexes large subunit family.
descriptionrecommendedName: fullName evidence="12"AP-4 complex subunit epsilon-1 alternativeName: AP-4 adaptor complex subunit epsilon alternativeName: Adaptor-related protein complex 4 subunit epsilon-1 alternativeName: Epsilon subunit of AP-4 alternativeName: Epsilon-adaptin
geneNameAP4E1
identifierQ9UPM8
isSequenceChangedFALSE
keywordAlternative splicing
Golgi apparatus
Hereditary spastic paraplegia
Membrane
Neurodegeneration
Phosphoprotein
Protein transport
Proteomics identification
Reference proteome
Transport
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameAP4E1
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8988822] ENSEMBL:ENSG00000081014 AP4E1 [Homo sapiens]
secondaryIdentifierAP4E1_HUMAN
A0AVD6
A1L4A9
A6NNX7
H0YKX4
Q68D31
Q9Y588
sequenceLength1137
species[Species:48887] Homo sapiens
(isoformParent)[ReferenceIsoform:8976368] UniProt:Q9UPM8-1 AP4E1 [Homo sapiens]
[ReferenceIsoform:8976369] UniProt:Q9UPM8-2 AP4E1 [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:434209] AP4E1 [cytoplasmic vesicle membrane] [Homo sapiens]
[EntityWithAccessionedSequence:434338] AP4E1 [Golgi membrane] [Homo sapiens]
[EntityWithAccessionedSequence:5229075] AP4E1 [endosome lumen] [Homo sapiens]
[EntityWithAccessionedSequence:5229094] AP4E1 [trans-Golgi network membrane] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q9UPM8 AP4E1 (49324)