Gene
rsrc1
- ID
- ZDB-GENE-040426-2374
- Name
- arginine/serine-rich coiled-coil 1
- Symbol
- rsrc1 Nomenclature History
- Previous Names
-
- zgc:85700 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to be involved in alternative mRNA splicing, via spliceosome. Predicted to act upstream of or within mRNA splicing, via spliceosome. Predicted to be active in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 70. Orthologous to human RSRC1 (arginine and serine rich coiled-coil 1).
- 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:85700 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive intellectual developmental disorder 70 | Alliance | Intellectual developmental disorder, autosomal recessive 70 | 618402 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR034604 | Serine/Arginine-related protein 53 |
Domain Details Per Protein
| Protein | Length | Serine/Arginine-related protein 53 |
|---|---|---|
|
UniProtKB:Q6NWH9
|
308 |
Interactions and Pathways
No data available
Plasmids
No data available