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56652 TWNK

56652

TWNK

twinkle mtDNA helicase

protein-coding

Homo sapiens

基因描述

Type Description
Definition twinkle mtDNA helicase

研究结论

Date Results Publications
2021-03-28 19:07:00 Consequences of compromised mitochondrial genome integrity. 33087282
2020-12-26 13:14:00 Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase. 32213598
2020-07-18 11:45:00 patients with Perrault syndrome caused by TWNK mutations will manifest neurological signs in adulthood. 31455392
2019-12-07 11:21:00 Two novel TWNK c.1186 C > T/ c.1844 G > C compound heterozygous mutations which were probably the disease-causing mutations of hepatocerebral form of depletion syndrome (MDS) and described the clinical manifestations of the proband, which expanded the phenotypic spectrum of MDS caused by variants in TWNK. 31455269
2019-10-12 12:40:00 These findings suggest that Twinkle is essential for RNA organization in granules, and that mtSSB is involved in the recently proposed GRSF1-mtRNA degradosome pathway, a route suggested to be particularly aimed at degradation of G-quadruplex prone long non-coding mtRNAs. 30715486

名称对应

Type IDs
Synonymous ATXN8, C10orf2, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL
Gene
UniProtKB-ID: PEO1_HUMAN, Q9H6V3_HUMAN, A0A2R8Y746_HUMAN, A0A2R8Y4V4_HUMAN, E5KSY5_HUMAN
UniprotKB: Q96RR1, Q9H6V3, A0A2R8Y746, A0A2R8Y4V4, E5KSY5
UniParc: UPI000006E3B8, UPI000006D9D6, UPI0001B1A4B6, UPI0001B1A4B5, UPI0000072A25, UPI00005C8A25
EMBL: HQ206143, CH471066, HQ206137, HQ206125, AK025485, HQ206132, HQ206124, HQ206118, AF292004, HQ206126, HQ206138, HQ206133, HQ206120, BC013349, HQ206119, AF292005, HQ206130, HQ206112, HQ206134, HQ206141, HQ206140, HQ206114, HQ206106, HQ206136, HQ206131, HQ206110, AL133215, HQ206139, HQ206111, EU543650, HQ206144, HQ206122, HQ206115, HQ206121, HQ206113, HQ206117, HQ206128, HQ206127, HQ206116, HQ206145, HQ206142, HQ206135, HQ206129, HQ206108, HQ206107, HQ206109, HQ206123, BX640829, BC033762
Ensembl: ENSG00000107815
KO: hsa:56652
Nucleutide sequences
EMBL-CDS: AAK69559.1, AAH13349.1, EAW49794.1, ACB21043.1, AAK69558.1, CAE45905.1, BAB15148.1, AAH33762.1, ADP92042.1, ADP92028.1, ADP92038.1, ADP92016.1, ADP92031.1, ADP92035.1, ADP92045.1, ADP92019.1, ADP92017.1, ADP92027.1, ADP92034.1, ADP92033.1, ADP92037.1, ADP92015.1, ADP92014.1, ADP92020.1, ADP92041.1, ADP92024.1, ADP92048.1, ADP92023.1, ADP92046.1, ADP92022.1, ADP92052.1, ADP92029.1, ADP92050.1, ADP92018.1, ADP92040.1, ADP92049.1, ADP92047.1, ADP92030.1, ADP92026.1, ADP92051.1, ADP92053.1, ADP92025.1, ADP92043.1, ADP92021.1, ADP92036.1, ADP92039.1, ADP92032.1, ADP92044.1
Ensembl_TRS: ENST00000643860, ENST00000370228, ENST00000311916, ENST00000476766, ENST00000473656
Protein sequencees
Ensembl_PRO: ENSP00000309595, ENSP00000494389, ENSP00000359248, ENSP00000496012, ENSP00000494326
RefSeq: NP_001355204.1, NP_001157284.1, NP_068602.2, NP_001157286.1, NP_001157285.1
Others
UniRef100: UniRef100_A0A2R8Y746, UniRef100_Q96RR1
UniRef90: UniRef90_Q96RR1-2, UniRef90_Q96RR1
UniRef50: UniRef50_Q96RR1
UniGene: Hs.22678
CCDS: CCDS7506.1, CCDS53570.1

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