Gene

twnk

ID
ZDB-GENE-030131-5569
Name
twinkle mtDNA helicase
Symbol
twnk Nomenclature History
Previous Names
  • fi04d09
  • peo1 (1)
  • twinkle (1)
  • wu:fi04d09
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to enable DNA helicase activity and single-stranded DNA binding activity. Predicted to be involved in mitochondrial DNA replication. Predicted to act upstream of or within DNA replication. Predicted to be active in mitochondrion. Is expressed in brain. Human ortholog(s) of this gene implicated in Perrault syndrome; autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; chronic progressive external ophthalmoplegia; and mitochondrial DNA depletion syndrome 7. Orthologous to human TWNK (twinkle mtDNA helicase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With twnk Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 Alliance Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 609286
mitochondrial DNA depletion syndrome 7 Alliance Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245
Perrault syndrome 5 616138
Associated With twnk Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR007694 DNA helicase, DnaB-like, C-terminal
Domain IPR034154 Archaeal primase DnaG/twinkle, TOPRIM domain
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Domain Details Per Protein
Protein Length Archaeal primase DnaG/twinkle, TOPRIM domain DNA helicase, DnaB-like, C-terminal P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A0A0R4ICC1 728
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
Citations