Gene
ap1s2
- ID
- ZDB-GENE-030131-5448
- Name
- adaptor related protein complex 1 subunit sigma 2
- Symbol
- ap1s2 Nomenclature History
- Previous Names
-
- wu:fb94g06
- wu:fd19a08
- zgc:65824
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable clathrin adaptor activity. Predicted to be involved in vesicle-mediated transport. Predicted to act upstream of or within protein transport. Predicted to be located in Golgi apparatus; clathrin-coated pit; and cytoplasmic vesicle. Predicted to be part of AP-1 adaptor complex. Predicted to be active in intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability 5. Orthologous to human AP1S2 (adaptor related protein complex 1 subunit sigma 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77925 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
No data available
No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| syndromic X-linked intellectual disability 5 | Alliance | Pettigrew syndrome | 304340 |
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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 | IPR044733 | AP-1 complex subunit sigma |
| Homologous_superfamily | IPR011012 | Longin-like domain superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Adaptor protein complex, sigma subunit | AP-1 complex subunit sigma | AP complex, mu/sigma subunit | Clathrin adaptor complex, small chain | Longin-like domain superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:Q6P0R9 | InterPro | 157 |
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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 | CH211-209F22 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-225B20 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-276H22 | ZFIN Curated Data | |
| Contains | SNP | rs3728346 | ZFIN Curated Data | |
| Contains | SNP | rs3728347 | ZFIN Curated Data | |
| Encodes | EST | fb94g06 | ||
| Encodes | EST | fd19a08 | ||
| Encodes | cDNA | MGC:65824 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:77925 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174449 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_205558 (1) | 1657 nt | ||
| Genomic | GenBank:CR450764 (1) | 152815 nt | ||
| Polypeptide | UniProtKB:Q6P0R9 (1) | 157 aa |
- 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
- 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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