Gene
ap4e1
- ID
- ZDB-GENE-061221-3
- Name
- adaptor related protein complex 4 subunit epsilon 1
- Symbol
- ap4e1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to enable cargo adaptor activity. Predicted to be involved in intracellular protein transport and vesicle-mediated transport. Predicted to act upstream of or within protein transport. Predicted to be located in Golgi apparatus and membrane. Predicted to be part of AP-4 adaptor complex. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 51 and stuttering. Orthologous to human AP4E1 (adaptor related protein complex 4 subunit epsilon 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa8426 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa11955 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19357 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa32509 | Allele with one point mutation | Unknown | Splice Site | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-ap4e1 | Pembridge et al., 2022 | |
| CRISPR2-ap4e1 | Pembridge et al., 2022 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 51 | Alliance | Spastic paraplegia 51, autosomal recessive | 613744 |
| stuttering | Alliance | Stuttering, familial persistent, 1 | 184450 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR002553 | Clathrin/coatomer adaptor, adaptin-like, N-terminal |
| Domain | IPR028269 | AP-4 complex subunit epsilon-1, C-terminal |
| Family | IPR017109 | Adaptor protein complex AP-4, epsilon subunit |
| Family | IPR050840 | Adaptor Complexes Large Subunit |
| Homologous_superfamily | IPR011989 | Armadillo-like helical |
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Domain Details Per Protein
| Protein | Length | Adaptor Complexes Large Subunit | Adaptor protein complex AP-4, epsilon subunit | AP-4 complex subunit epsilon-1, C-terminal | Armadillo-like helical | Armadillo-type fold | Clathrin/coatomer adaptor, adaptin-like, N-terminal |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A0R4IQI7
|
1121 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-286K11 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_693950 (1) | 3732 nt | ||
| Genomic | GenBank:AL954697 (1) | 134798 nt | ||
| Polypeptide | UniProtKB:A0A0R4IQI7 (1) | 1121 aa |
- Pembridge, O.G., Wallace, N.S., Clements, T.P., Jackson, L.P. (2022) AP-4 loss in CRISPR-edited zebrafish affects early embryo development. Advances in Biological Regulation. 87:100945
- D'Amore, A., Tessa, A., Naef, V., Bassi, M.T., Citterio, A., Romaniello, R., Fichi, G., Galatolo, D., Mero, S., Battini, R., Bertocci, G., Baldacci, J., Sicca, F., Gemignani, F., Ricca, I., Rubegni, A., Hirst, J., Marchese, M., Sahin, M., Ebrahimi-Fakhari, D., Santorelli, F.M. (2020) Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Annals of clinical and translational neurology. 7(4):584-589
- Lo, J., Lee, S., Xu, M., Liu, F., Ruan, H., Eun, A., He, Y., Ma, W., Wang, W., Wen, Z., and Peng, J. (2003) 15,000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Genome research. 13(3):455-466
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