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Details on Person UniProt:O00203 AP3B1
| Class:Id | ReferenceGeneProduct:49312 |
|---|---|
| _chainChangeLog | chain:1-1094 added on Fri February 6 2015 |
| _displayName | UniProt:O00203 AP3B1 |
| _timestamp | 2025-05-21 22:00:14 |
| chain | chain:1-1094 |
| checksum | AC683CE18EF90555 |
| comment | FUNCTION Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) 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. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.SUBUNIT Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2) (Probable). AP-3 associates with the BLOC-1 complex (By similarity). Interacts with KIF3A; interaction is direct; interaction is impaired by pyrophosphorylation of AP3B1 (PubMed:19934039).INTERACTION Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.ALTERNATIVE PRODUCTS Ubiquitously expressed.PTM Phosphorylated on serine residues.PTM Pyrophosphorylation by 5-diphosphoinositol pentakisphosphate (5-IP7) impairs interaction with KIF3A (PubMed:19934039). Serine pyrophosphorylation is achieved by Mg(2+)-dependent, but enzyme independent transfer of a beta-phosphate from a inositol pyrophosphate to a pre-phosphorylated serine residue (PubMed:19934039).DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the adaptor complexes large subunit family.SEQUENCE CAUTION Wrong choice of CDS.ONLINE INFORMATION AP3B1 mutation dbONLINE INFORMATION AP3B1 mutations |
| description | recommendedName: AP-3 complex subunit beta-1 alternativeName: Adaptor protein complex AP-3 subunit beta-1 alternativeName: Adaptor-related protein complex 3 subunit beta-1 alternativeName: Beta-3A-adaptin alternativeName: Clathrin assembly protein complex 3 beta-1 large chain |
| geneName | AP3B1 ADTB3A |
| identifier | O00203 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Albinism Alternative splicing Cytoplasmic vesicle Disease variant Golgi apparatus Hermansky-Pudlak syndrome Membrane Phosphoprotein Protein transport Proteomics identification Reference proteome Transport |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9948485] Weiser, Joel, 2025-05-21 |
| name | AP3B1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8957907] ENSEMBL:ENSG00000132842 AP3B1 [Homo sapiens] |
| secondaryIdentifier | AP3B1_HUMAN E5RJ68 O00580 Q7Z393 Q9HD66 |
| sequenceLength | 1094 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:401089] UniProt:O00203-1 AP3B1 [Homo sapiens] [ReferenceIsoform:8976367] UniProt:O00203-3 AP3B1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:434197] AP3B1 [cytoplasmic vesicle membrane] [Homo sapiens] [EntityWithAccessionedSequence:434335] AP3B1 [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:6802269] AP3B1(1-859)-BRAF(381-766) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:6802516] AP3B1(1-859)-p-BRAF(381-766) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:8958463] AP3B1 [extracellular region] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:O00203 AP3B1 (49312)
