AP5Z1 Gene Summary [Human]
This gene was identified by genome-wide screen for genes involved in homologous recombination DNA double-strand break repair (HR-DSBR). The encoded protein was found in a complex with other proteins that have a role in HR-DSBR. Knockdown of this gene reduced homologous recombination, and mutations in this gene were found in patients with spastic paraplegia. It was concluded that this gene likely encodes a helicase (PMID:20613862). [provided by RefSeq, Jan 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | AP5Z1 |
| Official Name | adaptor related protein complex 5 subunit zeta 1 [Source:HGNC Symbol;Acc:HGNC:22197] |
| Ensembl ID | ENSG00000242802 |
| Bio databases IDs | |
| Aliases | adaptor related protein complex 5 subunit zeta 1 |
| Synonyms | adaptor related protein complex 5 subunit zeta 1, adaptor related protein complex 5 subunit ζ 1, adaptor-related protein complex 5, zeta 1 subunit, adaptor-related protein complex 5, ζ 1 subunit, C330006K01Rik, KIAA0415, SPG48, zeta, ζ |
| 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 AP5Z1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- AP-5 complex subunit, vesicle trafficking
Pathways
Biological processes and signaling networks where the AP5Z1 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
- autosomal recessive spastic paraplegia type 48
- hereditary spastic paraplegia
- retinal dystrophy
- peripheral arterial disease
- hereditary disorder
- restless legs syndrome
role in cell
- autophagy by
- development
- assembly
- organization
- transport
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- lysosome
- nucleoplasm
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AP5Z1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vesicle-mediated transport
- protein transport
- endosomal transport
- double-strand break repair via homologous recombination
Cellular Component
Where in the cell the gene product is active
- nucleus
- AP-type membrane coat adaptor complex
- cytoplasm
- nuclear speck
- late endosome
- AP-5 adaptor complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding