Gene

tonsl

ID
ZDB-GENE-041111-230
Name
tonsoku-like, DNA repair protein
Symbol
tonsl Nomenclature History
Previous Names
  • im:7145273 (1)
  • zgc:171416 (1)
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 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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Burrage et al., 2019
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tonsl Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
spondyloepimetaphyseal dysplasia, Sponastrime type Alliance Spondyloepimetaphyseal dysplasia, sponastrime type 271510
Associated With tonsl Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR013026 Tetratricopeptide repeat-containing domain
Domain IPR020683 Ankyrin repeat-containing domain
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 Ankyrin repeat-containing domain superfamily Leucine-rich repeat Leucine-rich repeat, cysteine-containing subtype Leucine-rich repeat domain superfamily Tetratricopeptide-like helical domain superfamily Tetratricopeptide repeat Tetratricopeptide repeat-containing domain
UniProtKB:A0A2R8Q570 1395
UniProtKB:A0A2R8QLA3 1451
UniProtKB:A0A2R8QAS4 1427
UniProtKB:F1R859 1427
UniProtKB:A9JR78 1427
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations