Reactome: A Curated Pathway Database
THIS SITE IS USED FOR CURATION AND TESTING
IT IS NOT STABLE, IS LINKED TO AN INCOMPLETE DATA SET, AND IS NOT MONITORED FOR PERFORMANCE. WE STRONGLY RECOMMEND THE USE OF OUR PUBLIC SITE

Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

If you have an ORCID ID that is not listed on this page, please forward this information to us and we will update your Reactome pathway records.

Name Email address

Details on Person UniProt:O00203 AP3B1

Class:IdReferenceGeneProduct:49312
_chainChangeLogchain:1-1094 added on Fri February 6 2015
_displayNameUniProt:O00203 AP3B1
_timestamp2025-05-21 22:00:14
chainchain:1-1094
checksumAC683CE18EF90555
commentFUNCTION 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
descriptionrecommendedName: 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
geneNameAP3B1
ADTB3A
identifierO00203
isSequenceChangedFALSE
keyword3D-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
nameAP3B1
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8957907] ENSEMBL:ENSG00000132842 AP3B1 [Homo sapiens]
secondaryIdentifierAP3B1_HUMAN
E5RJ68
O00580
Q7Z393
Q9HD66
sequenceLength1094
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]
[Change default viewing format]
No pathways have been reviewed or authored by UniProt:O00203 AP3B1 (49312)