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 have DNA helicase activity and single-stranded DNA binding activity. Predicted to be involved in mitochondrial DNA replication. Predicted to localize to mitochondrion. 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. Is expressed in brain. 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