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 localize to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. 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