Entity Details

Primary name AP3B1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO00203
EntryNameAP3B1_HUMAN
FullNameAP-3 complex subunit beta-1
TaxID9606
Evidenceevidence at protein level
Length1094
SequenceStatuscomplete
DateCreated2001-09-26
DateModified2021-06-02

Ontological Relatives

GenesAP3B1

GO terms

Show/Hide Table
GOName
GO:0000902 cell morphogenesis
GO:0002224 toll-like receptor signaling pathway
GO:0002244 hematopoietic progenitor cell differentiation
GO:0003016 respiratory system process
GO:0005739 mitochondrion
GO:0005765 lysosomal membrane
GO:0005794 Golgi apparatus
GO:0006464 cellular protein modification process
GO:0006622 protein targeting to lysosome
GO:0006882 cellular zinc ion homeostasis
GO:0006886 intracellular protein transport
GO:0006954 inflammatory response
GO:0007040 lysosome organization
GO:0007283 spermatogenesis
GO:0007338 single fertilization
GO:0007596 blood coagulation
GO:0008089 anterograde axonal transport
GO:0016020 membrane
GO:0016182 synaptic vesicle budding from endosome
GO:0016192 vesicle-mediated transport
GO:0019903 protein phosphatase binding
GO:0030123 AP-3 adaptor complex
GO:0030131 clathrin adaptor complex
GO:0030665 clathrin-coated vesicle membrane
GO:0030742 GTP-dependent protein binding
GO:0030851 granulocyte differentiation
GO:0032438 melanosome organization
GO:0034394 protein localization to cell surface
GO:0042789 mRNA transcription by RNA polymerase II
GO:0045202 synapse
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048007 antigen processing and presentation, exogenous lipid antigen via MHC class Ib
GO:0048490 anterograde synaptic vesicle transport
GO:0048872 homeostasis of number of cells
GO:0050790 regulation of catalytic activity
GO:0051138 positive regulation of NK T cell differentiation
GO:0060155 platelet dense granule organization
GO:0060425 lung morphogenesis
GO:0090152 establishment of protein localization to mitochondrial membrane involved in mitochondrial fission
GO:0098773 skin epidermis development
GO:1904115 axon cytoplasm

Subcellular Location

Show/Hide Table
Subcellular Location
Cytoplasmic vesicle
Golgi apparatus

Domains

Show/Hide Table
DomainNameCategoryType
IPR002553 Clathrin/coatomer adaptor, adaptin-like, N-terminalDomainDomain
IPR015151 Beta-adaptin appendage, C-terminal subdomainDomainDomain
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR026739 AP complex subunit betaFamilyFamily
IPR026740 AP-3 complex subunit betaFamilyFamily
IPR029390 AP-3 complex subunit beta, C-terminal domainDomainDomain
IPR029394 AP-3 complex subunit beta 1, serine-rich domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
608233 OMIMHermansky-Pudlak syndrome 2 (HPS2)A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. HPS2 differs from the other forms of HPS in that it includes immunodeficiency in its phenotype and patients with HPS2 have an increased susceptibility to infections. The disease is caused by variants affecting the gene represented in this entry.
203300 OMIMHermansky-Pudlak syndrome 1 (HPS1)A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.

Interactions

36 interactions

InteractorPartnerSourcesPublicationsLink
AP3B1_HUMANKIF3A_HUMANDIP19934039 details
AP3B1_HUMANANK3_HUMANDIP19934039 details
AP3B1_HUMANIDLC_HUMANIntAct32814053 details
AP3B1_HUMANBAG6_HUMANIntAct32814053 details
AP3B1_HUMANOPTN_HUMANIntAct32814053 details
AP3B1_HUMANSYUA_HUMANIntAct32814053 details
AP3B1_HUMANHD_HUMANIntAct32814053 details
AP3B1_HUMANZNT3_HUMANBioGRID, HPRD14657250 details
AP3B1_HUMANARF5_HUMANBioGRID11926829 details
AP3B1_HUMANARF6_HUMANBioGRID, HPRD11926829 details
AP3B1_HUMANAP3D1_HUMANBioGRID15469849 22863883 22939629 26344197 details
AP3B1_HUMANATR_HUMANBioGRID10608806 details
AP3B1_HUMANATM_HUMANBioGRID10608806 details
AP3B1_HUMANGKAP1_HUMANBioGRID26871637 details
AP3B1_HUMANARF1_HUMANBioGRID, HPRD11926829 15469849 details
AP3B1_HUMANBUB1B_HUMANHPRD12419313 details
AP3B1_HUMANBUB1_HUMANHPRD12419313 details
AP3B1_HUMANLRRK2_HUMANIntAct, MINT24725412 27424887 details
AP3B1_HUMANCC154_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANNOLC1_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANE2AK1_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANMCM3_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANDPOD1_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANATRX_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANMFAP1_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANPR38A_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANNAF1_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANEAF1_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANRBM14_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANDDX20_HUMANBioGRID, IntAct27173435 unassigned1312 details
AP3B1_HUMANAP3S2_HUMANBioGRID, HPRD9182526 details
AP3B1_HUMANSEPT7_HUMANBioGRID25380047 details
AP3B1_HUMANLRSM1_HUMANBioGRID25380047 details
AP3B1_HUMANARRC_HUMANHPRD11877451 details
AP3B1_HUMANKC1A_HUMANHPRD12062430 details
AP3B1_HUMANCLH1_HUMANHPRD9545220 details