Ap3b1 Gene Summary [Mouse]
Predicted to enable GTP-dependent protein binding activity and protein phosphatase binding activity. Involved in anterograde synaptic vesicle transport. Acts upstream of with a positive effect on positive regulation of transcription by RNA polymerase II. Acts upstream of or within with a negative effect on mRNA transcription by RNA polymerase II and regulation of catalytic activity. Acts upstream of or within several processes, including establishment of protein localization to organelle; hemopoiesis; and vesicle organization. Is active in microvesicle. Used to study Hermansky-Pudlak syndrome 2 and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 2; interstitial lung disease; neutropenia; and pulmonary fibrosis. Orthologous to human AP3B1 (adaptor related protein complex 3 subunit beta 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ap3b1 |
| Official Name | adaptor-related protein complex 3, beta 1 subunit [Source:MGI Symbol;Acc:MGI:1333879] |
| Ensembl ID | ENSMUSG00000021686 |
| Bio databases IDs | |
| Aliases | adaptor-related protein complex 3, beta 1 subunit |
| Synonyms | adaptor-related protein complex 3, beta 1 subunit, adaptor related protein complex 3 subunit beta 1, adaptor related protein complex 3 subunit β 1, adaptor-related protein complex 3, β 1 subunit, ADTB3, ADTB3A, AP-3, AP-3 beta3, AP-3 Beta Subunit, AP-3 cargo, AP-3 β Subunit, AU015684, beta3A, HPS, HPS2, PE, pearl, rim2, Tsap4 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Ap3b1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- cAMP-GEFII binding domain
- GTP-dependent protein binding
- clathrin binding domain
- Clathrin-adaptor complex-3 beta-1 subunit C-terminal
- protein phosphatase binding
- protein binding
- HEAT repeats
- appendage domain
- ear domain
- hinge domain
- zinc finger domain
- Adaptin N terminal region
- transporter
Pathways
Biological processes and signaling networks where the Ap3b1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- major depression
- Hermansky-Pudlak syndrome type 2
- autoinflammatory disorder
- wheeze
- metabolic syndrome X
- acute myeloid leukemia
- osteoarthritis
- HIV infection
- Hermansky-Pudlak syndrome
role in cell
- quantity
- differentiation
- morphology
- activation in
- phosphorylation in
- morphogenesis
- organization
- activation
- transport
- accumulation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- plasma membrane fraction
- membrane fraction
- microvesicles
- Golgi Apparatus
- trans Golgi network
- dense core granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ap3b1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein localization at cell surface
- protein modification process
- anterograde axon cargo transport
- cellular zinc ion homeostasis
- blood coagulation
- establishment of protein localization in mitochondrial membrane involved in mitochondrial fission
- protein targeting to lysosome
- intracellular protein transport
- positive regulation of transcription from RNA polymerase II promoter
- single fertilization
- hemopoietic progenitor cell differentiation
- lung morphogenesis
- inflammatory response
- vesicle-mediated transport
- cargo loading into clathrin-coated vesicle, AP-3-mediated
- mRNA transcription from RNA polymerase II promoter
- platelet dense granule organization
- lysosome organization
- cell morphogenesis
- spermatogenesis
- intracellular transport
- antigen processing and presentation, exogenous lipid antigen via MHC class Ib
- respiratory system process
- toll-like receptor signaling pathway
- melanosome organization
- homeostasis of number of cells
- granulocyte differentiation
- positive regulation of NK T cell differentiation
- anterograde synaptic vesicle transport
Cellular Component
Where in the cell the gene product is active
- early endosome
- mitochondrion
- membrane
- clathrin adaptor complex
- Golgi apparatus
- AP-3 adaptor complex
- lysosomal membrane
- clathrin coated vesicle membrane
Molecular Function
What the gene product does at the molecular level
- protein phosphatase binding
- protein binding
- GTP-dependent protein binding