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
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive nonsyndromic deafness 109 | Alliance | ?Deafness, autosomal recessive 109 | 618013 |
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 |
| Homologous_superfamily | IPR012677 | Nucleotide-binding alpha-beta plait domain superfamily |
| Homologous_superfamily | IPR035979 | RNA-binding domain superfamily |
| Homologous_superfamily | IPR036397 | Ribonuclease H superfamily |
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 |
Interactions and Pathways
No data available
Plasmids
No data available