Gene
eml1
- ID
- ZDB-GENE-060929-156
- Name
- EMAP like 1
- Symbol
- eml1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable microtubule binding activity. Acts upstream of or within cone photoresponse recovery. Predicted to be located in microtubule. Predicted to colocalize with mitotic spindle. Is expressed in anterior macula; eye; oocyte; and retinal cone cell. Human ortholog(s) of this gene implicated in skin melanoma and subcortical band heterotopia. Orthologous to human EML1 (EMAP like 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Korenbrot et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la020078Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la020079Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la020080Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa13937 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa14062 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa16731 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa36452 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa36453 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| subcortical band heterotopia | Alliance | Band heterotopia | 600348 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR005108 | HELP motif |
| Domain | IPR055439 | Echinoderm microtubule-associated protein-like, first beta-propeller domain |
| Domain | IPR055442 | EML-like, second beta-propeller domain |
| Family | IPR050630 | WD repeat Echinoderm Microtubule-associated Protein-like |
| Homologous_superfamily | IPR011047 | Quinoprotein alcohol dehydrogenase-like superfamily |
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Domain Details Per Protein
| Protein | Additional Resources | Length | Echinoderm microtubule-associated protein-like, first beta-propeller domain | EML-like, second beta-propeller domain | HELP motif | Quinoprotein alcohol dehydrogenase-like superfamily | WD40 repeat | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily | WD repeat Echinoderm Microtubule-associated Protein-like |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2B5R3 | InterPro | 822 | ||||||||
| UniProtKB:A0A8M9P921 | InterPro | 839 | ||||||||
| UniProtKB:A0A8M9PED7 | InterPro | 835 | ||||||||
| UniProtKB:E7EXY5 | InterPro | 813 | ||||||||
| UniProtKB:A0A2R8RMY7 | InterPro | 817 |
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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 | DKEYP-115B3 | ZFIN Curated Data | |
| Encodes | EST | fj01a06 | ||
| Encodes | cDNA | MGC:153105 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191813 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001193598 (1) | 3795 nt | ||
| Genomic | GenBank:BX546478 (2) | 131670 nt | ||
| Polypeptide | UniProtKB:A0A8M9P088 (1) | 840 aa |
- Tao, B., Hu, H., Chen, J., Chen, L., Luo, D., Sun, Y., Ge, F., Zhu, Z., Trudeau, V.L., Hu, W. (2022) Sinhcaf-dependent histone deacetylation is essential for primordial germ cell specification. EMBO reports. 23(6):e54387
- 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
- Korenbrot, J.I., Mehta, M., Tserentsoodol, N., Postlethwait, J.H., and Rebrik, T.I. (2013) EML1 (CNG-Modulin) Controls Light Sensitivity in Darkness and under Continuous Illumination in Zebrafish Retinal Cone Photoreceptors. The Journal of neuroscience : the official journal of the Society for Neuroscience. 33(45):17763-17776
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
- McDermott, B.M., Baucom, J.M., and Hudspeth, A.J. (2007) Analysis and functional evaluation of the hair-cell transcriptome. Proceedings of the National Academy of Sciences of the United States of America. 104(28):11820-11825
- Wang, D., Jao, L.E., Zheng, N., Dolan, K., Ivey, J., Zonies, S., Wu, X., Wu, K., Yang, H., Meng, Q., Zhu, Z., Zhang, B., Lin, S., and Burgess, S.M. (2007) Efficient genome-wide mutagenesis of zebrafish genes by retroviral insertions. Proceedings of the National Academy of Sciences of the United States of America. 104(30):12428-12433
- 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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