Type | Description |
---|---|
Definition | twinkle mtDNA helicase |
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 |
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
|