AP3B1 Gene Summary [Human]
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is part of the heterotetrameric AP-3 protein complex which interacts with the scaffolding protein clathrin. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
Details
| Type | Protein Coding |
| Official Symbol | AP3B1 |
| Official Name | adaptor related protein complex 3 subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:566] |
| Ensembl ID | ENSG00000132842 |
| Bio databases IDs | |
| Aliases | adaptor related protein complex 3 subunit beta 1, beta-3A |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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 human 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