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Protein

Twinkle protein, mitochondrial

Gene

PEO1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi415 – 422ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • 5'-3' DNA helicase activity Source: UniProtKB
  • ATP binding Source: UniProtKB-KW
  • protease binding Source: UniProtKB
  • single-stranded DNA binding Source: UniProtKB

GO - Biological processi

  • cellular response to glucose stimulus Source: Ensembl
  • DNA unwinding involved in DNA replication Source: Ensembl
  • mitochondrial DNA replication Source: UniProtKB
  • mitochondrion organization Source: Reactome
  • protein hexamerization Source: UniProtKB
  • protein homooligomerization Source: UniProtKB
  • transcription from mitochondrial promoter Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

DNA replication

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000107815-MONOMER.
BRENDAi3.6.4.12. 2681.
ReactomeiR-HSA-2151201. Transcriptional activation of mitochondrial biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Twinkle protein, mitochondrial (EC:3.6.4.12)
Alternative name(s):
Progressive external ophthalmoplegia 1 protein
T7 gp4-like protein with intramitochondrial nucleoid localization
T7-like mitochondrial DNA helicase
Gene namesi
Name:PEO1
Synonyms:C10orf2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:1160. C10orf2.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial matrix Source: Reactome
  • mitochondrial nucleoid Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion, Mitochondrion nucleoid

Pathology & Biotechi

Involvement in diseasei

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)12 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
See also OMIM:609286
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065102303R → Q in PEOA3. 2 PublicationsCorresponds to variant rs137852956dbSNPEnsembl.1
Natural variantiVAR_023647303R → W in PEOA3; also detected in a case showing digenic inheritance. 4 Publications1
Natural variantiVAR_023648315W → L in PEOA3. 1 PublicationCorresponds to variant rs111033575dbSNPEnsembl.1
Natural variantiVAR_065103315W → S in PEOA3. 1 Publication1
Natural variantiVAR_023649319K → E in PEOA3; the phenotype highly overlaps with sensory ataxic neuropathy dysarthria and ophthalmoparesis. 1 PublicationCorresponds to variant rs80356543dbSNPEnsembl.1
Natural variantiVAR_023650319K → T in PEOA3. 1 Publication1
Natural variantiVAR_065105334R → P in PEOA3. 1 Publication1
Natural variantiVAR_023652335P → L in PEOA3. 1 Publication1
Natural variantiVAR_023653354R → P in PEOA3. 2 PublicationsCorresponds to variant rs111033576dbSNPEnsembl.1
Natural variantiVAR_065106357R → P in PEOA3. 2 Publications1
Natural variantiVAR_023654359A → T in PEOA3. 2 PublicationsCorresponds to variant rs111033573dbSNPEnsembl.1
Natural variantiVAR_065108362A → P in PEOA3. 1 Publication1
Natural variantiVAR_065109363W → L in PEOA3. 1 Publication1
Natural variantiVAR_023655367I → T in PEOA3. 1 Publication1
Natural variantiVAR_023657369S → P in PEOA3. 1 Publication1
Natural variantiVAR_023658369S → Y in PEOA3. 1 PublicationCorresponds to variant rs111033579dbSNPEnsembl.1
Natural variantiVAR_065110370F → C in PEOA3. 1 Publication1
Natural variantiVAR_065111370F → L in PEOA3. 1 Publication1
Natural variantiVAR_023659374R → Q in PEOA3. 4 Publications1
Natural variantiVAR_023660381L → P in PEOA3. 2 PublicationsCorresponds to variant rs111033577dbSNPEnsembl.1
Natural variantiVAR_065112426S → N in PEOA3. 1 Publication1
Natural variantiVAR_065113458Q → H in PEOA3. 1 Publication1
Natural variantiVAR_065114460A → P in PEOA3. 1 Publication1
Natural variantiVAR_023661474W → C in PEOA3. 1 PublicationCorresponds to variant rs111033574dbSNPEnsembl.1
Natural variantiVAR_065115474W → S in PEOA3. 1 PublicationCorresponds to variant rs11542127dbSNPEnsembl.1
Natural variantiVAR_065116475A → D in PEOA3. 1 Publication1
Natural variantiVAR_023662475A → P in PEOA3. 1 PublicationCorresponds to variant rs111033572dbSNPEnsembl.1
Natural variantiVAR_065117478F → I in PEOA3. 1 Publication1
Natural variantiVAR_065118479E → K in PEOA3. 2 Publications1
Mitochondrial DNA depletion syndrome 7 (MTDPS7)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present.
See also OMIM:271245
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065104318A → T in MTDPS7. 1 PublicationCorresponds to variant rs80356542dbSNPEnsembl.1
Natural variantiVAR_065107360L → G in MTDPS7; patients manifest multi-organ failure; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_067722456L → V in MTDPS7; infantile spinocerebellar ataxia phenotype. 1 PublicationCorresponds to variant rs386834145dbSNPEnsembl.1
Natural variantiVAR_039045457T → I in MTDPS7; affects helicase activity. 1 PublicationCorresponds to variant rs80356544dbSNPEnsembl.1
Natural variantiVAR_043797508Y → C in MTDPS7. 2 PublicationsCorresponds to variant rs80356540dbSNPEnsembl.1
Perrault syndrome 5 (PRLTS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.
See also OMIM:616138
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_072657391R → H in PRLTS5. 1 PublicationCorresponds to variant rs556445621dbSNPEnsembl.1
Natural variantiVAR_072658441W → G in PRLTS5. 1 PublicationCorresponds to variant rs672601361dbSNPEnsembl.1
Natural variantiVAR_072659507V → I in PRLTS5. 1 PublicationCorresponds to variant rs369588002dbSNPEnsembl.1
Natural variantiVAR_072660585N → S in PRLTS5. 1 PublicationCorresponds to variant rs672601360dbSNPEnsembl.1

Keywords - Diseasei

Deafness, Disease mutation, Neurodegeneration, Neuropathy, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNETi56652.
MalaCardsiC10orf2.
MIMi271245. phenotype.
609286. phenotype.
616138. phenotype.
OpenTargetsiENSG00000107815.
Orphaneti254892. Autosomal dominant progressive external ophthalmoplegia.
1186. Infantile onset spinocerebellar ataxia.
363534. Mitochondrial DNA depletion syndrome, hepatocerebrorenal form.
2855. Perrault syndrome.
70595. Sensory ataxic neuropathy - dysarthria - ophthalmoparesis.
PharmGKBiPA162377675.

Polymorphism and mutation databases

BioMutaiPEO1.
DMDMi74752111.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 31MitochondrionSequence analysisAdd BLAST31
ChainiPRO_000004264032 – 684Twinkle protein, mitochondrialAdd BLAST653

Proteomic databases

EPDiQ96RR1.
MaxQBiQ96RR1.
PaxDbiQ96RR1.
PeptideAtlasiQ96RR1.
PRIDEiQ96RR1.

PTM databases

iPTMnetiQ96RR1.
PhosphoSitePlusiQ96RR1.

Expressioni

Tissue specificityi

High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.2 Publications

Gene expression databases

BgeeiENSG00000107815.
CleanExiHS_C10orf2.
ExpressionAtlasiQ96RR1. baseline and differential.
GenevisibleiQ96RR1. HS.

Organism-specific databases

HPAiHPA002532.

Interactioni

Subunit structurei

Forms multimers in vitro, including hexamers. Interacts with POLG in vitro.1 Publication

GO - Molecular functioni

  • protease binding Source: UniProtKB

Protein-protein interaction databases

BioGridi121166. 33 interactors.
IntActiQ96RR1. 22 interactors.
MINTiMINT-1385725.
STRINGi9606.ENSP00000309595.

Structurei

3D structure databases

ProteinModelPortaliQ96RR1.
SMRiQ96RR1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini384 – 635SF4 helicasePROSITE-ProRule annotationAdd BLAST252

Sequence similaritiesi

Contains 1 SF4 helicase domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2373. Eukaryota.
ENOG410XRZX. LUCA.
GeneTreeiENSGT00390000004495.
HOGENOMiHOG000273872.
HOVERGENiHBG059782.
InParanoidiQ96RR1.
KOiK17680.
OMAiLPLRGEW.
OrthoDBiEOG091G03Y8.
PhylomeDBiQ96RR1.
TreeFamiTF105994.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR007694. DNA_helicase_DnaB-like_C.
IPR027417. P-loop_NTPase.
IPR027032. Twinkle-like.
[Graphical view]
PANTHERiPTHR12873. PTHR12873. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51199. SF4_HELICASE. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96RR1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWVLLRSGYP LRILLPLRGE WMGRRGLPRN LAPGPPRRRY RKETLQALDM
60 70 80 90 100
PVLPVTATEI RQYLRGHGIP FQDGHSCLRA LSPFAESSQL KGQTGVTTSF
110 120 130 140 150
SLFIDKTTGH FLCMTSLAEG SWEDFQASVE GRGDGAREGF LLSKAPEFED
160 170 180 190 200
SEEVRRIWNR AIPLWELPDQ EEVQLADTMF GLTKVTDDTL KRFSVRYLRP
210 220 230 240 250
ARSLVFPWFS PGGSGLRGLK LLEAKCQGDG VSYEETTIPR PSAYHNLFGL
260 270 280 290 300
PLISRRDAEV VLTSRELDSL ALNQSTGLPT LTLPRGTTCL PPALLPYLEQ
310 320 330 340 350
FRRIVFWLGD DLRSWEAAKL FARKLNPKRC FLVRPGDQQP RPLEALNGGF
360 370 380 390 400
NLSRILRTAL PAWHKSIVSF RQLREEVLGE LSNVEQAAGL RWSRFPDLNR
410 420 430 440 450
ILKGHRKGEL TVFTGPTGSG KTTFISEYAL DLCSQGVNTL WGSFEISNVR
460 470 480 490 500
LARVMLTQFA EGRLEDQLDK YDHWADRFED LPLYFMTFHG QQSIRTVIDT
510 520 530 540 550
MQHAVYVYDI CHVIIDNLQF MMGHEQLSTD RIAAQDYIIG VFRKFATDNN
560 570 580 590 600
CHVTLVIHPR KEDDDKELQT ASIFGSAKAS QEADNVLILQ DRKLVTGPGK
610 620 630 640 650
RYLQVSKNRF DGDVGVFPLE FNKNSLTFSI PPKNKARLKK IKDDTGPVAK
660 670 680
KPSSGKKGAT TQNSEICSGQ APTPDQPDTS KRSK
Length:684
Mass (Da):77,154
Last modified:December 1, 2001 - v1
Checksum:i58186043888234DA
GO
Isoform 2 (identifier: Q96RR1-2) [UniParc]FASTAAdd to basket
Also known as: Twinky

The sequence of this isoform differs from the canonical sequence as follows:
     579-582: ASQE → VSGL
     583-684: Missing.

Show »
Length:582
Mass (Da):66,016
Checksum:i8A6A46BDCD5B8C3F
GO
Isoform 3 (identifier: Q96RR1-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     532-684: Missing.

Show »
Length:531
Mass (Da):60,400
Checksum:iB7B4246EC5B6502A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti351N → D in CAE45905 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065102303R → Q in PEOA3. 2 PublicationsCorresponds to variant rs137852956dbSNPEnsembl.1
Natural variantiVAR_023647303R → W in PEOA3; also detected in a case showing digenic inheritance. 4 Publications1
Natural variantiVAR_023648315W → L in PEOA3. 1 PublicationCorresponds to variant rs111033575dbSNPEnsembl.1
Natural variantiVAR_065103315W → S in PEOA3. 1 Publication1
Natural variantiVAR_065104318A → T in MTDPS7. 1 PublicationCorresponds to variant rs80356542dbSNPEnsembl.1
Natural variantiVAR_023649319K → E in PEOA3; the phenotype highly overlaps with sensory ataxic neuropathy dysarthria and ophthalmoparesis. 1 PublicationCorresponds to variant rs80356543dbSNPEnsembl.1
Natural variantiVAR_023650319K → T in PEOA3. 1 Publication1
Natural variantiVAR_065105334R → P in PEOA3. 1 Publication1
Natural variantiVAR_023651334R → Q in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance. 3 PublicationsCorresponds to variant rs28937887dbSNPEnsembl.1
Natural variantiVAR_023652335P → L in PEOA3. 1 Publication1
Natural variantiVAR_062268348G → R.1 PublicationCorresponds to variant rs62626271dbSNPEnsembl.1
Natural variantiVAR_023653354R → P in PEOA3. 2 PublicationsCorresponds to variant rs111033576dbSNPEnsembl.1
Natural variantiVAR_065106357R → P in PEOA3. 2 Publications1
Natural variantiVAR_023654359A → T in PEOA3. 2 PublicationsCorresponds to variant rs111033573dbSNPEnsembl.1
Natural variantiVAR_065107360L → G in MTDPS7; patients manifest multi-organ failure; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_065108362A → P in PEOA3. 1 Publication1
Natural variantiVAR_065109363W → L in PEOA3. 1 Publication1
Natural variantiVAR_023655367I → T in PEOA3. 1 Publication1
Natural variantiVAR_023656368V → I.4 PublicationsCorresponds to variant rs17113613dbSNPEnsembl.1
Natural variantiVAR_023657369S → P in PEOA3. 1 Publication1
Natural variantiVAR_023658369S → Y in PEOA3. 1 PublicationCorresponds to variant rs111033579dbSNPEnsembl.1
Natural variantiVAR_065110370F → C in PEOA3. 1 Publication1
Natural variantiVAR_065111370F → L in PEOA3. 1 Publication1
Natural variantiVAR_023659374R → Q in PEOA3. 4 Publications1
Natural variantiVAR_023660381L → P in PEOA3. 2 PublicationsCorresponds to variant rs111033577dbSNPEnsembl.1
Natural variantiVAR_072657391R → H in PRLTS5. 1 PublicationCorresponds to variant rs556445621dbSNPEnsembl.1
Natural variantiVAR_065112426S → N in PEOA3. 1 Publication1
Natural variantiVAR_051267427E → G.Corresponds to variant rs11542126dbSNPEnsembl.1
Natural variantiVAR_072658441W → G in PRLTS5. 1 PublicationCorresponds to variant rs672601361dbSNPEnsembl.1
Natural variantiVAR_067722456L → V in MTDPS7; infantile spinocerebellar ataxia phenotype. 1 PublicationCorresponds to variant rs386834145dbSNPEnsembl.1
Natural variantiVAR_039045457T → I in MTDPS7; affects helicase activity. 1 PublicationCorresponds to variant rs80356544dbSNPEnsembl.1
Natural variantiVAR_065113458Q → H in PEOA3. 1 Publication1
Natural variantiVAR_065114460A → P in PEOA3. 1 Publication1
Natural variantiVAR_023661474W → C in PEOA3. 1 PublicationCorresponds to variant rs111033574dbSNPEnsembl.1
Natural variantiVAR_065115474W → S in PEOA3. 1 PublicationCorresponds to variant rs11542127dbSNPEnsembl.1
Natural variantiVAR_065116475A → D in PEOA3. 1 Publication1
Natural variantiVAR_023662475A → P in PEOA3. 1 PublicationCorresponds to variant rs111033572dbSNPEnsembl.1
Natural variantiVAR_065117478F → I in PEOA3. 1 Publication1
Natural variantiVAR_065118479E → K in PEOA3. 2 Publications1
Natural variantiVAR_072659507V → I in PRLTS5. 1 PublicationCorresponds to variant rs369588002dbSNPEnsembl.1
Natural variantiVAR_043797508Y → C in MTDPS7. 2 PublicationsCorresponds to variant rs80356540dbSNPEnsembl.1
Natural variantiVAR_072660585N → S in PRLTS5. 1 PublicationCorresponds to variant rs672601360dbSNPEnsembl.1
Natural variantiVAR_062269634N → K.1 PublicationCorresponds to variant rs62626293dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_015959532 – 684Missing in isoform 3. 1 PublicationAdd BLAST153
Alternative sequenceiVSP_015960579 – 582ASQE → VSGL in isoform 2. 2 Publications4
Alternative sequenceiVSP_015961583 – 684Missing in isoform 2. 2 PublicationsAdd BLAST102

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF292004 mRNA. Translation: AAK69558.1.
AF292005 mRNA. Translation: AAK69559.1.
BX640829 mRNA. Translation: CAE45905.1.
AL133215 Genomic DNA. Translation: CAI10924.1.
EU543650 Genomic DNA. Translation: ACB21043.1.
AL133215 Genomic DNA. Translation: CAI10925.1.
CH471066 Genomic DNA. Translation: EAW49794.1.
BC013349 mRNA. Translation: AAH13349.1.
CCDSiCCDS53570.1. [Q96RR1-2]
CCDS7506.1. [Q96RR1-1]
RefSeqiNP_001157284.1. NM_001163812.1. [Q96RR1-2]
NP_068602.2. NM_021830.4. [Q96RR1-1]
UniGeneiHs.22678.

Genome annotation databases

EnsembliENST00000311916; ENSP00000309595; ENSG00000107815. [Q96RR1-1]
ENST00000370228; ENSP00000359248; ENSG00000107815. [Q96RR1-2]
GeneIDi56652.
KEGGihsa:56652.
UCSCiuc001ksf.3. human. [Q96RR1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF292004 mRNA. Translation: AAK69558.1.
AF292005 mRNA. Translation: AAK69559.1.
BX640829 mRNA. Translation: CAE45905.1.
AL133215 Genomic DNA. Translation: CAI10924.1.
EU543650 Genomic DNA. Translation: ACB21043.1.
AL133215 Genomic DNA. Translation: CAI10925.1.
CH471066 Genomic DNA. Translation: EAW49794.1.
BC013349 mRNA. Translation: AAH13349.1.
CCDSiCCDS53570.1. [Q96RR1-2]
CCDS7506.1. [Q96RR1-1]
RefSeqiNP_001157284.1. NM_001163812.1. [Q96RR1-2]
NP_068602.2. NM_021830.4. [Q96RR1-1]
UniGeneiHs.22678.

3D structure databases

ProteinModelPortaliQ96RR1.
SMRiQ96RR1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121166. 33 interactors.
IntActiQ96RR1. 22 interactors.
MINTiMINT-1385725.
STRINGi9606.ENSP00000309595.

PTM databases

iPTMnetiQ96RR1.
PhosphoSitePlusiQ96RR1.

Polymorphism and mutation databases

BioMutaiPEO1.
DMDMi74752111.

Proteomic databases

EPDiQ96RR1.
MaxQBiQ96RR1.
PaxDbiQ96RR1.
PeptideAtlasiQ96RR1.
PRIDEiQ96RR1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311916; ENSP00000309595; ENSG00000107815. [Q96RR1-1]
ENST00000370228; ENSP00000359248; ENSG00000107815. [Q96RR1-2]
GeneIDi56652.
KEGGihsa:56652.
UCSCiuc001ksf.3. human. [Q96RR1-1]

Organism-specific databases

CTDi56652.
DisGeNETi56652.
GeneCardsiC10orf2.
GeneReviewsiC10orf2.
HGNCiHGNC:1160. C10orf2.
HPAiHPA002532.
MalaCardsiC10orf2.
MIMi271245. phenotype.
606075. gene.
609286. phenotype.
616138. phenotype.
neXtProtiNX_Q96RR1.
OpenTargetsiENSG00000107815.
Orphaneti254892. Autosomal dominant progressive external ophthalmoplegia.
1186. Infantile onset spinocerebellar ataxia.
363534. Mitochondrial DNA depletion syndrome, hepatocerebrorenal form.
2855. Perrault syndrome.
70595. Sensory ataxic neuropathy - dysarthria - ophthalmoparesis.
PharmGKBiPA162377675.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2373. Eukaryota.
ENOG410XRZX. LUCA.
GeneTreeiENSGT00390000004495.
HOGENOMiHOG000273872.
HOVERGENiHBG059782.
InParanoidiQ96RR1.
KOiK17680.
OMAiLPLRGEW.
OrthoDBiEOG091G03Y8.
PhylomeDBiQ96RR1.
TreeFamiTF105994.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000107815-MONOMER.
BRENDAi3.6.4.12. 2681.
ReactomeiR-HSA-2151201. Transcriptional activation of mitochondrial biogenesis.

Miscellaneous databases

ChiTaRSiC10orf2. human.
GeneWikiiPEO1.
GenomeRNAii56652.
PROiQ96RR1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107815.
CleanExiHS_C10orf2.
ExpressionAtlasiQ96RR1. baseline and differential.
GenevisibleiQ96RR1. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR007694. DNA_helicase_DnaB-like_C.
IPR027417. P-loop_NTPase.
IPR027032. Twinkle-like.
[Graphical view]
PANTHERiPTHR12873. PTHR12873. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51199. SF4_HELICASE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPEO1_HUMAN
AccessioniPrimary (citable) accession number: Q96RR1
Secondary accession number(s): B2CQL2
, Q6MZX2, Q6PJP5, Q96RR0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: December 1, 2001
Last modified: November 2, 2016
This is version 137 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.