Gene
tonsl
- ID
- ZDB-GENE-041111-230
- Name
- tonsoku-like, DNA repair protein
- Symbol
- tonsl Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable histone binding activity. Predicted to be involved in double-strand break repair via homologous recombination and replication fork processing. Predicted to act upstream of or within DNA repair. Predicted to be located in cytoplasm and nucleus. Predicted to be active in nuclear replication fork. Human ortholog(s) of this gene implicated in spondyloepimetaphyseal dysplasia, Sponastrime type. Orthologous to human TONSL (tonsoku like, DNA repair protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Burrage et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
spondyloepimetaphyseal dysplasia, Sponastrime type | Alliance | Spondyloepimetaphyseal dysplasia, sponastrime type | 271510 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR052311 | MMS22L-TONSL complex component |
Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
Homologous_superfamily | IPR036770 | Ankyrin repeat-containing domain superfamily |
Repeat | IPR001611 | Leucine-rich repeat |
Repeat | IPR002110 | Ankyrin repeat |
Repeat | IPR006553 | Leucine-rich repeat, cysteine-containing subtype |
Repeat | IPR019734 | Tetratricopeptide repeat |
Domain Details Per Protein
Protein | Length | Ankyrin repeat | Ankyrin repeat-containing domain superfamily | Leucine-rich repeat | Leucine-rich repeat, cysteine-containing subtype | Leucine-rich repeat domain superfamily | MMS22L-TONSL complex component | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat |
---|---|---|---|---|---|---|---|---|---|
UniProtKB:A9JR78
|
1427 |
Interactions and Pathways
No data available
Plasmids
No data available