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 have histone binding activity. Predicted to be involved in double-strand break repair via homologous recombination and replication fork processing. Predicted to colocalize with DNA replication factor A complex; FACT complex; and MCM complex. 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