adaptor-related protein complex 4, beta 1 subunit
Symbol
AP4B1
(may also be known as: None)
Organism
Human
Description
This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Orthologs
| Symbol | Species | |
|---|---|---|
| ap4b1 | Danio rerio | |
| Ap4b1 | Mus musculus | |
| Ap4b1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0006810 | transport | biological_process | |
| GO:0006886 | intracellular protein transport | biological_process | |
| GO:0016192 | vesicle-mediated transport | biological_process | |
| GO:0005625 | soluble fraction | cellular_component | |
| GO:0005794 | Golgi apparatus | cellular_component | |
| GO:0005802 | trans-Golgi network | cellular_component | |
| GO:0030117 | membrane coat | cellular_component | |
| GO:0030131 | clathrin adaptor complex | cellular_component | |
| GO:0005215 | transporter activity | molecular_function | |
| GO:0005488 | binding | molecular_function | |
| GO:0008565 | protein transporter activity | molecular_function | |