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 results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]

Uniprot Accession IDs

• Q96RR1
• B2CQL2
• Q6MZX2
• Q6PJP5
• Q96RR0

Gene Name

• TWNK

Ensembl ID

• ENST00000311916
• ENSP00000309595
• ENSG00000107815
• ENST00000370228
• ENSP00000359248
• ENST00000643860
• ENSP00000494389

Symbol

• C10orf2
• PEO1
• PEO
• PEO1
• SCA8
• ATXN8
• IOSCA
• PEOA3
• SANDO
• TWINL
• MTDPS7
• PRLTS5
• C10orf2

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

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Helicase / Dna Helicase / Twinkle Protein, Mitochondrial

Protein / Nucleic Acid Binding / Dna Binding Protein / Dna Helicase / Twinkle Protein, Mitochondrial

DTO Classes

Protein / Enzyme / Helicase / Dna Helicase / Twinkle Protein, Mitochondrial

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: 340.31   (req: < 5)

Gene RIFs: 61   (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: 340.31   (req: >= 5)

Gene RIFs: 61   (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