Gene
ap4s1
- ID
- ZDB-GENE-030616-404
- Name
- adaptor related protein complex 4 subunit sigma 1
- Symbol
- ap4s1 Nomenclature History
- Previous Names
-
- si:dz115o7.1
- si:dz234g15.5
- zgc:136677
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Involved in central nervous system neuron axonogenesis. Acts upstream of or within regulation of axonogenesis. Predicted to be located in endomembrane system and membrane. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in central nervous system. Used to study hereditary spastic paraplegia 52. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 52. Orthologous to human AP4S1 (adaptor related protein complex 4 subunit sigma 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from D'Amore et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary spastic paraplegia 52 | Alliance | Spastic paraplegia 52, autosomal recessive | 614067 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hereditary spastic paraplegia 52 | ap4s1zf3882/zf3882 (AB) | standard conditions | Li et al., 2023 |
| hereditary spastic paraplegia 52 | AB + MO2-ap4s1 | standard conditions | D'Amore et al., 2020 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Adaptor protein complex, sigma subunit | AP complex, mu/sigma subunit | Longin-like domain superfamily |
|---|---|---|---|---|---|
| UniProtKB:Q29RE3 | InterPro | 144 | |||
| UniProtKB:Q78AM7 | InterPro | 140 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-18B8 | ZFIN Curated Data | |
| Contained in | PAC | BUSM1-115O7 | ||
| Contained in | PAC | BUSM1-234G15 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:136677 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001003826 (1) | 423 nt | ||
| Genomic | GenBank:BX324186 (1) | 153540 nt | ||
| Polypeptide | UniProtKB:Q29RE3 (1) | 144 aa |
- Li, Y., Zhang, C., Peng, G. (2023) Ap4s1 truncation leads to axonal defects in a zebrafish model of spastic paraplegia 52. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience. 83(8):753-764
- 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
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Strausberg,R.L., Feingold,E.A., Grouse,L.H., Derge,J.G., Klausner,R.D., Collins,F.S., Wagner,L., Shenmen,C.M., Schuler,G.D., Altschul,S.F., Zeeberg,B., Buetow,K.H., Schaefer,C.F., Bhat,N.K., Hopkins,R.F., Jordan,H., Moore,T., Max,S.I., Wang,J., Hsieh,F., Diatchenko,L., Marusina,K., Farmer,A.A., Rubin,G.M., Hong,L., Stapleton,M., Soares,M.B., Bonaldo,M.F., Casavant,T.L., Scheetz,T.E., Brownstein,M.J., Usdin,T.B., Toshiyuki,S., Carninci,P., Prange,C., Raha,S.S., Loquellano,N.A., Peters,G.J., Abramson,R.D., Mullahy,S.J., Bosak,S.A., McEwan,P.J., McKernan,K.J., Malek,J.A., Gunaratne,P.H., Richards,S., Worley,K.C., Hale,S., Garcia,A.M., Gay,L.J., Hulyk,S.W., Villalon,D.K., Muzny,D.M., Sodergren,E.J., Lu,X., Gibbs,R.A., Fahey,J., Helton,E., Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M., Madan,A., Young,A.C., Shevchenko,Y., Bouffard,G.G., Blakesley,R.W., Touchman,J.W., Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J., Myers,R.M., Butterfield,Y.S., Krzywinski,M.I., Skalska,U., Smailus,D.E., Schnerch,A., Schein,J.E., Jones,S.J., and Marra,M.A. (2002) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proceedings of the National Academy of Sciences of the United States of America. 99(26):16899-903
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