| Gene Information | |
|---|---|
| Gene Name | TWNK |
| Organism | Homo sapiens (Human) |
| Gene Length | 684 |
| Protein Names | Twinkle mtDNA helicase (EC 3.6.4.12) (Progressive external ophthalmoplegia 1 protein) (T7 gp4-like protein with intramitochondrial nucleoid localization) (T7-like mitochondrial DNA helicase) (Twinkle protein, mitochondrial) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 987 ( ENSG00000107815 ) |
| Evolutionary Stage | Eukaryota |
| AlphaFoldDB | Q96RR1 |
| Gene Card | TWNK |
| Uniprot ID | Q96RR1 |
| Pfam | NA |
| In ASD | no |
| Allosteric Prediction | no (-0.50376645) |
| Ortholog in Animals | Alpaca_ TWNK ( ortholog_one2one ) Dog_ TWNK ( ortholog_one2one ) GuineaPig_ TWNK ( ortholog_one2one ) Macaque_ TWNK ( ortholog_one2one ) Mouse_ Twnk ( ortholog_one2one ) Pig_ TWNK ( ortholog_one2one ) Rat_ Twnk ( ortholog_one2one ) Rabbit_ TWNK ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43. {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:15509589}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
|
| PDB | 7T8B (EM 3.80A ) 7T8C (EM 4.50A ) |
| DBSNP | rs137852956 rs1159929268 rs111033575 rs80356542 rs80356543 rs28937887 rs62626271 rs111033576 rs758026634 rs111033573 rs1554887075 rs17113613 rs111033579 rs863223920 rs1554887097 rs111033577 rs556445621 rs11542126 rs672601361 rs386834145 rs80356544 rs1554887213 rs111033574 rs11542127 rs111033572 rs1085307937 rs369588002 rs80356540 rs672601360 rs62626293 |
| Subcellular location [CC] | Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:18971204}. Note=Colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance and expression. {ECO:0000269|PubMed:11431692}. |
| Mouse PG classification | LPG |
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