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

Gene ID: 226153, updated on 23-Jun-2021

Summary

Official Symbol
Twnkprovided by MGI
Official Full Name
twinkle mtDNA helicaseprovided by MGI
Primary source
MGI:MGI:2137410
See related
Ensembl:ENSMUSG00000025209
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
Pe; Tw; PEO; Peo1; twin; Twinl; D19Ertd626; D19Ertd626e
Expression
Ubiquitous expression in ovary adult (RPKM 14.3), colon adult (RPKM 12.5) and 28 other tissues See more
Orthologs
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Genomic context

See Twnk in Genome Data Viewer
Location:
19 C3; 19 38.19 cM
Exon count:
6
Annotation release Status Assembly Chr Location
109 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)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 19 NC_000085.5 (45081048..45087252)

Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene SMC5-SMC6 complex localization factor 2 Neighboring gene RIKEN cDNA 4930414N06 gene Neighboring gene sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G Neighboring gene mitochondrial ribosomal protein L43 Neighboring gene leucine zipper, putative tumor suppressor 2 Neighboring gene PDZ domain containing 7 Neighboring gene sideroflexin 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC41750

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 DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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
PubMed 
enables single-stranded DNA binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
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
PubMed 
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 mitochondrial nucleoid ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
twinkle protein, mitochondrial
Names
T7 gp4-like protein with intramitochondrial nucleoid localization
progressive external ophthalmoplegia 1 protein homolog
putative T7-like mitochodrial DNA helicase twinky
NP_001335183.1
NP_001335188.1
NP_722491.2

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)

  1. NM_001348254.1NP_001335183.1  twinkle protein, mitochondrial 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
    Q3V303
    Related
    ENSMUSP00000157397.2, ENSMUST00000236685.2
    Conserved Domains (1) summary
    cl28885
    Location:1178
    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 ...
  2. NM_001348259.1NP_001335188.1  twinkle protein, mitochondrial 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/Swiss-Prot
    Q8CIW5
    Conserved Domains (1) summary
    cl28885
    Location:18235
    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 ...
  3. NM_153796.4NP_722491.2  twinkle protein, mitochondrial 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
    UniProtKB/TrEMBL
    Q3V303
    Related
    ENSMUSP00000026227.3, ENSMUST00000026227.3
    Conserved Domains (3) summary
    cd01029
    Location:260336
    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:366624
    DnaB; Replicative DNA helicase [Replication, recombination and repair]
    cd01122
    Location:375633
    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: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000085.7 Reference GRCm39 C57BL/6J

    Range
    44994102..45001203
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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