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TWNK twinkle mtDNA helicase [ Homo sapiens (human) ]

Gene ID: 56652, updated on 5-Aug-2018

Summary

Official Symbol
TWNKprovided by HGNC
Official Full Name
twinkle mtDNA helicaseprovided by HGNC
Primary source
HGNC:HGNC:1160
See related
Ensembl:ENSG00000107815 MIM:606075; Vega:OTTHUMG00000018917
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 6.0), lymph node (RPKM 3.3) and 25 other tissues See more
Orthologs

Genomic context

See TWNK in Genome Data Viewer
Location:
10q24.31
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (100987527..100994403)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (102747293..102754159)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene semaphorin 4G Neighboring gene microRNA 608 Neighboring gene mitochondrial ribosomal protein L43 Neighboring gene leucine zipper tumor suppressor 2 Neighboring gene PDZ domain containing 7 Neighboring gene sideroflexin 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
  • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
    Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
  • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
    Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21832

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-3' DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA unwinding involved in DNA replication IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucose stimulus IEA
Inferred from Electronic Annotation
more info
 
mitochondrial DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial DNA replication NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial transcription IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion organization TAS
Traceable Author Statement
more info
 
protein hexamerization IDA
Inferred from Direct Assay
more info
PubMed 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrial nucleoid IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
twinkle protein, mitochondrial
Names
T7 gp4-like protein with intramitochondrial nucleoid localization
T7 helicase-related protein with intramitochondrial nucleoid localization
T7-like mitochondrial DNA helicase
ataxin 8
mitochondrial twinkle protein
progressive external ophthalmoplegia 1 protein
NP_001157284.1
NP_001157285.1
NP_001157286.1
NP_068602.2
XP_011538277.1
XP_016871926.1

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012624.1 RefSeqGene

    Range
    5001..11866
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163812.1NP_001157284.1  twinkle protein, mitochondrial isoform B

    See identical proteins and their annotated locations for NP_001157284.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region which introduces a novel stop codon, compared to variant 1. The encoded protein (isoform B; also known as Twinky) has a shorter and distinct C-terminus, which lacks a C-terminal domain required for hexamer formation, compared to isoform A.
    Source sequence(s)
    AF292005, AK025485, BC013349, CB112401, DB090322
    Consensus CDS
    CCDS53570.1
    UniProtKB/Swiss-Prot
    Q96RR1
    UniProtKB/TrEMBL
    Q9H6V3
    Related
    ENSP00000359248.1, OTTHUMP00000020297, ENST00000370228.2, OTTHUMT00000049887
    Conserved Domains (2) summary
    cd01029
    Location:259335
    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 ...
    cl21455
    Location:374580
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_001163813.1NP_001157285.1  twinkle protein, mitochondrial isoform C

    See identical proteins and their annotated locations for NP_001157285.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in exon 1 that results in the use of an in-frame downstream start codon, compared to variant 1. The encoded protein (isoform C) lacks most of the N-terminus, which contains a mitochondrial targeting sequence and probable ssDNA binding domain, compared to isoform A.
    Source sequence(s)
    AK025485, BQ643363, CB112401
    Consensus CDS
    CCDS86136.1
    UniProtKB/TrEMBL
    Q9H6V3
    Related
    ENSP00000494326.1, ENST00000473656.5
    Conserved Domains (1) summary
    cl21455
    Location:1178
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_001163814.1NP_001157286.1  twinkle protein, mitochondrial isoform D

    See identical proteins and their annotated locations for NP_001157286.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple splice site differences, compared to variant 1. The encoded protein (isoform D) lacks most of the N-terminus, which contains a mitochondrial targeting sequence and probable ssDNA binding domain, and has a shorter and distinct C-terminus, which lacks a C-terminal domain required for hexamer formation, compared to isoform A.
    Source sequence(s)
    AK025485, AL133215, CB112401
    Consensus CDS
    CCDS86137.1
    UniProtKB/TrEMBL
    Q9H6V3
    Related
    ENSP00000496012.1, ENST00000476766.5
    Conserved Domains (1) summary
    cl21455
    Location:1126
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  4. NM_021830.4NP_068602.2  twinkle protein, mitochondrial isoform A

    See identical proteins and their annotated locations for NP_068602.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (A; also known as Twinkle).
    Source sequence(s)
    AF292004, AK025485, CB112401, DB090322
    Consensus CDS
    CCDS7506.1
    UniProtKB/Swiss-Prot
    Q96RR1
    UniProtKB/TrEMBL
    E5KSY5, Q9H6V3
    Related
    ENSP00000309595.2, OTTHUMP00000020296, ENST00000311916.7, OTTHUMT00000049886
    Conserved Domains (2) summary
    cd01029
    Location:259335
    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 ...
    cd01122
    Location:374632
    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.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    100987527..100994403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011539975.2XP_011538277.1  twinkle protein, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011538277.1

    Conserved Domains (1) summary
    cl21455
    Location:1178
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_017016437.1XP_016871926.1  twinkle protein, mitochondrial isoform X1

    Conserved Domains (1) summary
    cl21455
    Location:1178
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_001747142.1 RNA Sequence

    Related
    ENST00000643860.1
  2. XR_001747144.1 RNA Sequence

  3. XR_945788.2 RNA Sequence

  4. XR_002956991.1 RNA Sequence

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