Gene
exosc3
- ID
- ZDB-GENE-050706-140
- Name
- exosome component 3
- Symbol
- exosc3 Nomenclature History
- Previous Names
-
- im:7140537
- zgc:112345 (1)
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have RNA binding activity. Involved in axonogenesis; cerebellar Purkinje cell layer structural organization; and chordate embryonic development. Predicted to localize to cytoplasmic exosome (RNase complex) and nuclear exosome (RNase complex). Used to study pontocerebellar hypoplasia type 1B. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 1B. Is expressed in brain and eye. Orthologous to human EXOSC3 (exosome component 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7140537 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pontocerebellar hypoplasia type 1B | Alliance | Pontocerebellar hypoplasia, type 1B | 614678 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| pontocerebellar hypoplasia type 1B | WT + MO1-exosc3 | standard conditions | Francois-Moutal et al., 2018 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR004088 | K Homology domain, type 1 |
| Domain | IPR037319 | Rrp40, S1 domain |
| Domain | IPR048541 | Exosome complex component RRP40, N-terminal domain |
| Domain | IPR049469 | Exosome complex component RRP40, type I KH domain |
| Family | IPR026699 | Exosome complex RNA-binding protein 1/RRP40/RRP4 |
| Homologous_superfamily | IPR012340 | Nucleic acid-binding, OB-fold |
| Homologous_superfamily | IPR036612 | K Homology domain, type 1 superfamily |
Domain Details Per Protein
| Protein | Length | Exosome complex component RRP40, N-terminal domain | Exosome complex component RRP40, type I KH domain | Exosome complex RNA-binding protein 1/RRP40/RRP4 | K Homology domain, type 1 | K Homology domain, type 1 superfamily | Nucleic acid-binding, OB-fold | Rrp40, S1 domain |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q4KMD2
|
247 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
exosc3-201
(1)
|
Ensembl | 988 nt | ||
| ncRNA |
exosc3-002
(1)
|
Ensembl | 810 nt |
Interactions and Pathways
No data available
Plasmids
No data available