Twnk twinkle mtDNA helicase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Twnkprovided by MGI
Official Full Name: twinkle mtDNA helicaseprovided by MGI
Primary source: MGI:MGI:2137410
See related: Ensembl:ENSMUSG00000025209 AllianceGenome:MGI:2137410
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PEO; Peo1; Twinl; D19Ertd626e
Summary: Enables DNA helicase activity. Involved in mitochondrial DNA replication. Acts upstream of or within DNA unwinding involved in DNA replication. Located in mitochondrion. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in Perrault syndrome; autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3; chronic progressive external ophthalmoplegia; and mitochondrial DNA depletion syndrome 7. Orthologous to human TWNK (twinkle mtDNA helicase). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary adult (RPKM 14.3), colon adult (RPKM 12.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 38.19 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (44994102..45001203)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (45005663..45012764)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Twinkle overexpression alleviated impaired mitochondrial biogenesis in the border area through maintained mtDNA copy number and thereby prevented cardiac rupture accompanied by the reduction of apoptosis and oxidative stress, and suppression of MMP activity.
Title: Twinkle overexpression prevents cardiac rupture after myocardial infarction by alleviating impaired mitochondrial biogenesis.
Twinkle overexpression results in increased mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stress.
Title: Overexpression of TFAM or twinkle increases mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stress.
study describes findings in a family with late onset parkinsonism and progressive external ophthalmoplegia, with mutation of G1750A in the exon 1 of PEO1 gene
Title: Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art.
TWINKLE is essential for nascent H-strand synthesis in the D-loop, thus showing that there is no separate DNA helicase responsible for replication of this region.
Title: TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication.
mammalian Twinkle is important for mitochondrial integrity in DA neurons and provide a novel mouse model in which increased mtDNA deletions may lead to DA neuron degeneration and parkinsonism.
Title: Mutant Twinkle increases dopaminergic neurodegeneration, mtDNA deletions and modulates Parkin expression.
generated transgenic mice expressing mouse Twinkle with progressive external ophthalmoplegia patient mutations
Title: Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.
Essential for mtDNA maintenance, may be a key regulator of mtDNA copy number.
Title: Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 5'-3' DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISO Inferred from Sequence Orthology more info
enables DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA helicase activity	ISA Inferred from Sequence Alignment more info	PubMed
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables lipid binding	ISO Inferred from Sequence Orthology more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protease binding	ISO Inferred from Sequence Orthology more info
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA duplex unwinding	ISA Inferred from Sequence Alignment more info	PubMed
acts_upstream_of_or_within DNA replication	IEA Inferred from Electronic Annotation more info
involved_in DNA replication	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA unwinding involved in DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA unwinding involved in DNA replication	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial DNA replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial DNA replication	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial transcription	ISO Inferred from Sequence Orthology more info
involved_in protein hexamerization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial nucleoid	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: twinkle mtDNA helicase

Names: T7 gp4-like protein with intramitochondrial nucleoid localization; progressive external ophthalmoplegia 1 protein homolog; putative T7-like mitochodrial DNA helicase twinky; twinkle protein, mitochondrial

NP_001335183.1

EC 5.6.2.3

NP_001335188.1

EC 5.6.2.3

NP_722491.2

EC 5.6.2.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001348254.1 → NP_001335183.1 twinkle mtDNA helicase isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AC132957, AK054159, AV002195

Consensus CDS

CCDS89399.1

UniProtKB/TrEMBL

A0A494B8Y2

Related

ENSMUSP00000157397.2, ENSMUST00000236685.2

Conserved Domains (1) summary

cl28885
Location:1 → 178

RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
NM_001348259.1 → NP_001335188.1 twinkle mtDNA helicase isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC132957, AV002195, BC034909

UniProtKB/TrEMBL

Q3V303

Conserved Domains (1) summary

cl28885
Location:18 → 235

RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
NM_153796.4 → NP_722491.2 twinkle mtDNA helicase isoform 1

See identical proteins and their annotated locations for NP_722491.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC132957, AK054159, AV002195, BF225236, CA534850, CA537258

Consensus CDS

CCDS29854.1

UniProtKB/Swiss-Prot

Q8CIW5, Q8K1Z1

Related

ENSMUSP00000026227.3, ENSMUST00000026227.3

Conserved Domains (3) summary

cd01029
Location:260 → 336

TOPRIM_primases; TOPRIM_primases: The topoisomerase-primase (TORPIM) nucleotidyl transferase/hydrolase domain found in the active site regions of bacterial DnaG-type primases and their homologs. Primases synthesize RNA primers for the initiation of DNA replication. DnaG ...

COG0305
Location:366 → 624

DnaB; Replicative DNA helicase [Replication, recombination and repair]

cd01122
Location:375 → 633

GP4d_helicase; GP4d_helicase is a homohexameric 5'-3' helicases. Helicases couple NTP hydrolysis to the unwinding of nucleic acid duplexes into their component strands.