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Tbio
TWNK
Twinkle protein, mitochondrial

Protein Summary
Description
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. This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing resu ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000311916
  • ENSP00000309595
  • ENSG00000107815
  • ENST00000370228
  • ENSP00000359248
  • ENST00000643860
  • ENSP00000494389

Symbol
  • C10orf2
  • PEO1
  • PEO
  • PEO1
  • SCA8
  • ATXN8
  • IOSCA
  • PEOA3
  • SANDO
  • TWINL
  • MTDPS7
  • PRLTS5
  • C10orf2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0
biological term
0
cell line
0
cell type or tissue
0
cellular component
0


Related Tools
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 263.86   (req: < 5)
Gene RIFs: 49   (req: <= 3)
Antibodies: 208   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 263.86   (req: >= 5)
Gene RIFs: 49   (req: > 3)
Antibodies: 208   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
twinkle mtDNA helicase
VGNC:3820
745279
Mouse
MGI:2137410
226153
Rat
RGD:1307884
309441
Dog
twinkle mtDNA helicase
VGNC:48003
486845
Horse
twinkle mtDNA helicase
VGNC:24670
100070286
Species
Name
OMA
EggNOG
Inparanoid
Chimp
twinkle mtDNA helicase
Mouse
Rat
Dog
twinkle mtDNA helicase
Horse
twinkle mtDNA helicase
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q96RR1-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Gene Ontology Terms (13)
Items per page:
10
1 – 4 of 4
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Physical Interaction (IPI)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (100)
1 – 10 of 100
PRIMPOL
Tbio
Family: Enzyme
Novelty: 0.01285041
p_int: 0.9999972
p_ni: 0.0000028
Score: 0.672
Data Source: BioPlex,STRINGDB
MAP7
Tbio
Novelty: 0.01976296
p_int: 0.99999388
p_ni: 0.000006116
p_wrong: 4e-9
Data Source: BioPlex
MZF1
Tbio
Family: TF
Novelty: 0.01193919
p_int: 0.999992441
p_ni: 0.000007559
Data Source: BioPlex
ZNF263
Tbio
Family: TF
Novelty: 0.098799
p_int: 0.999987745
p_ni: 0.000012255
Data Source: BioPlex
ZNF169
Tdark
Family: TF
Novelty: 1.09432767
p_int: 0.999985605
p_ni: 0.000014395
Data Source: BioPlex
ZC3H18
Tdark
Novelty: 0.3515546
p_int: 0.999976474
p_ni: 0.000023526
Data Source: BioPlex
LGALS3BP
Tbio
Novelty: 0.0025302
p_int: 0.99994902
p_ni: 0.00005098
Data Source: BioPlex
RBMX
Tbio
Novelty: 0.01705784
p_int: 0.998988428
p_ni: 0.001011569
p_wrong: 4e-9
Score: 0.277
Data Source: BioPlex,STRINGDB
MECP2
Tchem
Family: TF
Novelty: 0.00051767
p_int: 0.995458421
p_ni: 0.004539043
p_wrong: 0.000002536
Score: 0.165
Data Source: BioPlex,STRINGDB
TRA2A
Tbio
Novelty: 0.04935993
p_int: 0.995024365
p_ni: 0.004975452
p_wrong: 1.83e-7
Data Source: BioPlex
Publication Statistics
PubMed Score  263.86

PubMed score by year
PubTator Score  129.41

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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