UniProt:O00203 AP3B1

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
crossReference
databaseName UniProt
dbId 49312
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
displayName UniProt:O00203 AP3B1
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:9948485] Weiser, Joel, 2025-05-21
moleculeType Protein
name
  • AP3B1
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • AP3B1_HUMAN
  • E5RJ68
  • O00580
  • Q7Z393
  • Q9HD66
sequenceLength 1094
species [Species:48887] Homo sapiens
stId uniprot:O00203
url http://purl.uniprot.org/uniprot/O00203
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