Gene
ap2s1
- ID
- ZDB-GENE-040426-2174
- Name
- adaptor related protein complex 2 subunit sigma 1
- Symbol
- ap2s1 Nomenclature History
- Previous Names
-
- fb52e12
- igib
- ignorance is bliss (1)
- wu:fb52e12
- wu:fk78e12
- zgc:65827
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to enable clathrin adaptor activity. Acts upstream of or within habituation. Predicted to be located in membrane. Predicted to be part of AP-2 adaptor complex. Predicted to be active in intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in familial hypocalciuric hypercalcemia 3. Orthologous to human AP2S1 (adaptor related protein complex 2 subunit sigma 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
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial hypocalciuric hypercalcemia 3 | Alliance | Hypocalciuric hypercalcemia, type III | 600740 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR000804 | Clathrin adaptor complex, small chain |
| Domain | IPR022775 | AP complex, mu/sigma subunit |
| Family | IPR016635 | Adaptor protein complex, sigma subunit |
| Family | IPR027156 | AP-2 complex subunit sigma |
| Homologous_superfamily | IPR011012 | Longin-like domain superfamily |
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Domain Details Per Protein
| Protein | Length | Adaptor protein complex, sigma subunit | AP-2 complex subunit sigma | AP complex, mu/sigma subunit | Clathrin adaptor complex, small chain | Longin-like domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:Q6PEJ2
|
142 |
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Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-13K20 | ZFIN Curated Data | |
| Encodes | EST | fb52e12 | ||
| Encodes | EST | fk78e12 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:65827 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_213155 (1) | 2809 nt | ||
| Genomic | GenBank:CR293508 (2) | 168933 nt | ||
| Polypeptide | UniProtKB:Q6PEJ2 (1) | 142 aa |
- Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
- Zúñiga Mouret, R., Greenbaum, J.P., Doll, H.M., Brody, E.M., Iacobucci, E.L., Roland, N.C., Simamora, R.C., Ruiz, I., Seymour, R., Ludwick, L., Krawitz, J.A., Groneberg, A.H., Marques, J.C., Laborde, A., Rajan, G., Del Bene, F., Orger, M.B., Jain, R.A. (2024) The adaptor protein 2 (AP2) complex modulates habituation and behavioral selection across multiple pathways and time windows. iScience. 27:109455109455
- Jain, R.A., Wolman, M.A., Marsden, K.C., Nelson, J.C., Shoenhard, H., Echeverry, F.A., Szi, C., Bell, H., Skinner, J., Cobbs, E.N., Sawada, K., Zamora, A.D., Pereda, A.E., Granato, M. (2018) A Forward Genetic Screen in Zebrafish Identifies the G-Protein-Coupled Receptor CaSR as a Modulator of Sensorimotor Decision Making. Current biology : CB. 28(9):1357-1369.e5
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- 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
- Wolman, M.A., Jain, R.A., Marsden, K.C., Bell, H., Skinner, J., Hayer, K.E., Hogenesch, J.B., Granato, M. (2015) A Genome-wide Screen Identifies PAPP-AA-Mediated IGFR Signaling as a Novel Regulator of Habituation Learning. Neuron. 85(6):1200-11
- Singh, S.K., Aravamudhan, S., Armant, O., Krüger, M., Grabher, C. (2014) Proteome dynamics in neutrophils of adult zebrafish upon chemically-induced inflammation. Fish & shellfish immunology. 40(1):217-24
- Mishima, Y., Abreu-Goodger, C., Staton, A.A., Stahlhut, C., Shou, C., Cheng, C., Gerstein, M., Enright, A.J., and Giraldez, A.J. (2009) Zebrafish miR-1 and miR-133 shape muscle gene expression and regulate sarcomeric actin organization. Genes & Development. 23(5):619-632
- 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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