Ap3d1 - adaptor-related protein complex 3, delta 1 subunit Gene
Also Known as mh; Ap3d; Bolvr; mocha; mBLVR1
Species: Mus musculus
Summary
Involved in anterograde synaptic vesicle transport; neurotransmitter receptor transport, postsynaptic endosome to lysosome; and synaptic vesicle budding from endosome. Acts upstream of or within several processes, including antigen processing and presentation, exogenous lipid antigen via MHC class Ib; positive regulation of NK T cell differentiation; and synaptic vesicle membrane organization. Located in endosome; postsynapse; and terminal bouton. Is active in glutamatergic synapse and presynapse. Is expressed in central nervous system and retina. Used to study Hermansky-Pudlak syndrome 1; Hermansky-Pudlak syndrome 2; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome. Orthologous to human AP3D1 (adaptor related protein complex 3 subunit delta 1). [provided by Alliance of Genome Resources, Apr 2022]
Ap3d1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_007460.2 | NP_031486.1 | AP-3 complex subunit delta-1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25808614 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axon |
IDA
IDA: Inferred from direct assay
|
20089890 | MGI |
| located in endosome membrane |
IDA
IDA: Inferred from direct assay
|
16162817 | MGI |
| is active in glutamatergic synapse |
IDA
IDA: Inferred from direct assay
|
24217640 | MGI |
| is active in glutamatergic synapse |
IEP
IEP: Inferred from expression pattern
|
24217640 | MGI |
| is active in glutamatergic synapse |
IMP
IMP: Inferred from mutant phenotype
|
24217640 | MGI |
| is active in postsynapse |
IDA
IDA: Inferred from direct assay
|
20089890 | MGI |
| is active in presynapse |
IDA
IDA: Inferred from direct assay
|
20089890 | MGI |
| is active in presynaptic endosome |
IDA
IDA: Inferred from direct assay
|
19144828 | MGI |
| located in terminal bouton |
IDA
IDA: Inferred from direct assay
|
20089890 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
AP-3 complex subunit delta-1 |
|
|