Gene

AP3D1

Species
Homo sapiens
Symbol
AP3D1
Name
adaptor related protein complex 3 subunit delta 1
Synonyms
  • adapter-related protein complex 3 subunit delta-1
  • adaptin, delta
Biotype
protein coding gene
Automated Description
Involved in endosome to melanosome transport; protein localization to membrane; and zinc ion import into lysosome. Located in endosome membrane. Implicated in Hermansky-Pudlak syndrome.
RGD Description
The protein encoded by this gene is a subunit of the AP3 adaptor-like complex, which is not clathrin-associated, but is associated with the golgi region, as well as more peripheral structures. The AP-3 complex facilitates the budding of vesicles from the golgi membrane, and may be directly involved in trafficking to lysosomes. This subunit is implicated in intracellular biogenesis and trafficking of pigment granules, and possibly platelet dense granules and neurotransmitter vesicles. Defects in this gene are a cause of a new type of Hermansky-Pudlak syndrome. [provided by RefSeq, Feb 2017]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR22781
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
2.11M2.12M2.13M2.14M2.15M2.16M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions