TWNK report

I. Expression across cell types

Insufficient scRNA-seq data for expression of TWNK at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of TWNK at tissue level.

III. Associated gene sets

GO_0071333Biological processcellular response to glucose stimulus
GO_0006268Biological processDNA unwinding involved in DNA replication
GO_0006264Biological processmitochondrial DNA replication
GO_0034214Biological processprotein hexamerization
GO_0006390Biological processmitochondrial transcription
GO_0005743Cellular componentmitochondrial inner membrane
GO_0005759Cellular componentmitochondrial matrix
GO_0042645Cellular componentmitochondrial nucleoid
GO_0005739Cellular componentmitochondrion
GO_0002020Molecular functionprotease binding
GO_0016853Molecular functionisomerase activity
GO_0003678Molecular functionDNA helicase activity
GO_0008289Molecular functionlipid binding
GO_0042802Molecular functionidentical protein binding
GO_0043139Molecular function5'-3' DNA helicase activity
GO_0016887Molecular functionATP hydrolysis activity
GO_0005524Molecular functionATP binding
GO_0003697Molecular functionsingle-stranded DNA binding

IV. Literature review

[source]
Gene nameTWNK
Protein nameC10orf2 protein (cDNA: FLJ21832 fis, clone HEP01571)
Twinkle mtDNA helicase
Twinkle mtDNA helicase (EC 5.6.2.3) (Progressive external ophthalmoplegia 1 protein) (T7 gp4-like protein with intramitochondrial nucleoid localization) (T7-like mitochondrial DNA helicase) (Twinkle protein, mitochondrial)
SynonymsC10orf2
PEO1
DescriptionFUNCTION: [Isoform 1]: Mitochondrial helicase involved in mtDNA replication and repair . Might have a role in mtDNA repair . Has DNA strand separation activity needed to form a processive replication fork for leading strand synthesis which is catalyzed by the formation of a replisome complex with POLG and mtSDB . Preferentially unwinds DNA substrates with pre-existing 5'-and 3'- single-stranded tails but is also active on a 5'- flap substrate . Can dissociate the invading strand of immobile or mobile D-loop DNA structures irrespective of the single strand polarity of the third strand . In addition to its DNA strand separation activity, also has DNA strand annealing, DNA strand-exchange and DNA branch migration activities . .; FUNCTION: [Isoform 2]: Lack DNA unwinding and ATP hydrolysis activities . Does not bind single-stranded or double-stranded DNA . .

AccessionsA0A2R8Y4V4
A0A2R8YF85
Q96RR1
A0A2R8Y746
ENST00000647109.1
ENST00000476766.5
ENST00000459764.1
ENST00000650396.1
A0A3B3IT76
A0A2R8Y8D3
ENST00000473656.5
ENST00000311916.8 [Q96RR1-1]
ENST00000370228.2 [Q96RR1-2]
Q9H6V3
ENST00000643860.1 [Q96RR1-3]