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Peo1
Gene Detail
 Symbol
Name
ID
Peo1
progressive external ophthalmoplegia 1 (human)
MGI:2137410
Synonyms D19Ertd626e, twinkle, Twinl
Feature Type protein coding gene
Genetic Map
Chromosome 19
38.19 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr19:45006558-45012762 bp, + strand
From NCBI annotation of GRCm38

  6205 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11052  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Peo1

Human
homologs
Human Homolog C10orf2, chromosome 10 open reading frame 2
NCBI Gene ID 56652
neXtProt AC  NX_Q96RR1
Human Synonyms  ATXN8, IOSCA, MTDPS7, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL
Human Chr (Location)  10q24; chr10:100987536-100994402 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human C10orf2
Alleles
and
phenotypes
All alleles(9) : Gene trapped(6) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous embryos display abnormal development. Embryos die around E8.5.
 
Gene Ontology
(GO)
classifications
All GO classifications: (22 annotations)
Process DNA duplex unwinding, DNA replication, ...
Component mitochondrial nucleoid, mitochondrion
Function 5'-3' DNA helicase activity, ATP binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
cDNA source data(64)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(65) cDNA(64) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000025209 (Evidence)
Entrez Gene226153 (Evidence)
UniGene105585
DFCITC1577140
DoTSDT.40184819, DT.50315297, DT.55192384
NIA Mouse Gene IndexU019496
EC3.6.4.12
Consensus CDS ProjectCCDS29854.1
International Mouse Knockout Project StatusPeo1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 226153 NCBI Gene Model | MGI Sequence Detail 6205 C57BL/6J ±  kb
transcript NM_153796 RefSeq | MGI Sequence Detail 3515 FVB/N 
polypeptide Q8CIW5 UniProt | EBI | MGI Sequence Detail 685 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(41 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007694 DNA helicase, DnaB-like, C-terminal
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR027032 Twinkle protein
Protein Ontology PR:000012545 twinkle protein, mitochondrial
Graphical View of Protein Domain Structure
References (Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:194965 Milenkovic D, et al., TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication. Hum Mol Genet. 2013 May 15;22(10):1983-93
All references(35)
Other
accession IDs
MGI:1277099

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory