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 rhesus macaque; 1 cattle; 1 dog; 1 chicken

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; chr10:102747293-102754158 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human C10orf2

Alleles and phenotypes

All alleles(7) : Targeted(1) Gene trapped(6)

Gene Ontology (GO) classifications

All GO classifications: (20 annotations)

Process	DNA replication, DNA unwinding involved in 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 Model	ENSMUSG00000025209 (Evidence)
Entrez Gene	226153 (Evidence)
UniGene	105585
DFCI	TC1577140
DoTS	DT.40184819, DT.50315297, DT.55192384
NIA Mouse Gene Index	U019496
EC	3.6.4.12
Consensus CDS Project	CCDS29854.1
International Mouse Knockout Project Status	Peo1

Sequences

Length	Strain/Species
genomic	226153	NCBI Gene Model | MGI Sequence Detail	6205	C57BL/6J
transcript	NM_153796	RefSeq | MGI Sequence Detail	3515	FVB/N
polypeptide	Q8CIW5	UniProt | EBI | MGI Sequence Detail	685	Not Applicable

All sequences(25) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(38 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR007694	DNA helicase, DnaB-like, C-terminal
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:179604 Yatsuga S, et al., Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice. Hum Mol Genet. 2012 Feb 1;21(3):526-35
All references(34)

Other accession IDs

MGI:1277099