Gene
esrp1
- ID
- ZDB-GENE-070112-1732
- Name
- epithelial splicing regulatory protein 1
- Symbol
- esrp1 Nomenclature History
- Previous Names
-
- rbm35a
- wu:fi28a07
- zgc:154050
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable mRNA binding activity. Acts upstream of or within cranial skeletal system development and hard palate morphogenesis. Predicted to be located in nucleus. Predicted to be part of ribonucleoprotein complex. Predicted to be active in nucleoplasm. Is expressed in several structures, including EVL; ectoderm; gut; median fin fold; and oral epithelium. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 109. Orthologous to human ESRP1 (epithelial splicing regulatory protein 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Burguera et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| crg1 | Allele with one delins | Exon 1 | Cryptic Donor Splice Site | CRISPR | |
| fb401 | Allele with one deletion | Exon 3 | Unknown | CRISPR | |
| la012899Tg | Transgenic insertion | Unknown | Unknown | DNA |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-esrp1 | Varshney et al., 2015 | |
| CRISPR2-esrp1 | Burguera et al., 2017 | |
| CRISPR3-esrp1 | Carroll et al., 2020 | |
| MO1-esrp1 | N/A | Melvin et al., 2013 |
| MO2-esrp1 | N/A | Carroll et al., 2020 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 109 | Alliance | ?Deafness, autosomal recessive 109 | 618013 |
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Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000504 | RNA recognition motif domain |
| Domain | IPR013520 | Exonuclease, RNase T/DNA polymerase III |
| Domain | IPR034427 | ESRP1, RNA recognition motif 1 |
| Family | IPR050666 | Epithelial Splicing Regulatory |
| Homologous_superfamily | IPR012337 | Ribonuclease H-like superfamily |
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Domain Details Per Protein
| Protein | Length | Epithelial Splicing Regulatory | ESRP1, RNA recognition motif 1 | Exonuclease, RNase T/DNA polymerase III | Nucleotide-binding alpha-beta plait domain superfamily | Ribonuclease H-like superfamily | Ribonuclease H superfamily | RNA-binding domain superfamily | RNA recognition motif domain |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M2B4A5
|
718 | ||||||||
|
UniProtKB:A1L1G1
|
714 |
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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 | CH211-79L20 | ||
| Contained in | BAC | DKEY-218I12 | ZFIN Curated Data | |
| Encodes | EST | fi28a07 | ||
| Encodes | cDNA | MGC:154050 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001080576 (1) | 3661 nt | ||
| Genomic | GenBank:BX511010 (2) | 156317 nt | ||
| Polypeptide | UniProtKB:A0A8M2B4A5 (1) | 718 aa |
- Tang, W.J., Watson, C.J., Olmstead, T., Allan, C.H., Kwon, R.Y. (2022) Single-cell resolution of MET- and EMT-like programs in osteoblasts during zebrafish fin regeneration. iScience. 25:103784
- Carroll, S.H., Macias Trevino, C., Li, E.B., Kawasaki, K., Myers, N., Hallett, S.A., Alhazmi, N., Cotney, J., Carstens, R.P., Liao, E.C. (2020) An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates. Development (Cambridge, England). 147(24):
- Burguera, D., Marquez, Y., Racioppi, C., Permanyer, J., Torres-Méndez, A., Esposito, R., Albuixech-Crespo, B., Fanlo, L., D'Agostino, Y., Gohr, A., Navas-Perez, E., Riesgo, A., Cuomo, C., Benvenuto, G., Christiaen, L.A., Martí, E., D'Aniello, S., Spagnuolo, A., Ristoratore, F., Arnone, M.I., Garcia-Fernàndez, J., Irimia, M. (2017) Evolutionary recruitment of flexible Esrp-dependent splicing programs into diverse embryonic morphogenetic processes. Nature communications. 8:1799
- Sugano, Y., Cianciolo Cosentino, C., Loffing-Cueni, D., Neuhauss, S.C.F., Loffing, J. (2017) Comparative transcriptomic analysis identifies evolutionarily conserved gene products in the vertebrate renal distal convoluted tubule. Pflugers Archiv : European journal of physiology. 469(7-8):859-867
- 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
- Melvin, V.S., Feng, W., Hernandez-Lagunas, L., Artinger, K.B., and Williams, T. (2013) A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis. Developmental Dynamics : an official publication of the American Association of Anatomists. 242(7):817-31
- 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
- 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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