AP4B1
AP4B1 Gene Summary
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]
Details
| Type | Protein Coding |
| Official Symbol | AP4B1 |
| Official Name | adaptor related protein complex 4 subunit beta 1 [Source:HGNC Symbol;Acc:HGNC:572] |
| Ensembl ID | ENSG00000134262 |
| Bio databases IDs | |
| Aliases | adaptor related protein complex 4 subunit beta 1, beta 4 subunit of AP-4, AP-4 complex subunit beta-1 |
| Synonyms | 1810038H16RIK,adaptor related protein complex 4 subunit beta 1,adaptor related protein complex 4 subunit β 1,adaptor-related protein complex AP-4, beta 1,adaptor-related protein complex AP-4, β 1,Ap4b4,Ap4 β 4,BETA-4,CPSQ5,SPG47,β-4 |
| Species | Human, Homo sapiens |
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 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- non-SMC mitotic condensation complex subunit 1
- protein binding
- Adaptin N terminal region
- HEAT repeats
- Beta2-adaptin appendage, C-terminal sub-domain
Pathways
Biological processes and signaling networks where the AP4B1 gene 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.
binds
- AP4E1
- FHIP1A
- HNF4A
- HSPA8
- ATG9A
- POTEE
- XPO1
- TEPSIN
- AP4S1
- AP4M1
disease
- epithelial cancer
- spastic paraplegia
- autosomal recessive spastic paraplegia type 47
- epithelial basal cell carcinoma
- hereditary disorder
- hereditary spastic paraplegia
- breast carcinoma
- AP4-deficiency syndrome
- skin neoplasm
- skin neoplasia
regulated by
- GABA
regulates
- NFkB (complex)
- ATG9A
- DAGLB
role in cell
- activation in
- accumulation in
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- endosomes
- cytosol
- trans Golgi network
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the AP4B1 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- protein targeting
- vesicle-mediated transport
- protein localization
- intracellular protein transport
CELLULAR COMPONENT
Where in the cell the gene product is active
- trans-Golgi network
- endosome lumen
- cytosol
- clathrin adaptor complex
- AP-4 adaptor complex
- trans-Golgi network membrane
MOLECULAR FUNCTION
What the gene product does at the molecular level
- protein binding
- clathrin binding