| Type | Description |
|---|---|
| Definition | tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase |
| Date | Results | Publications |
|---|---|---|
| 2019-08-17 10:14:00 | Heteroplasmic transition of A to G at position 1555 of MT-RNR1 gene was identified in all affected individuals co-existing with nuclear c.28G>T (p.A10S) variant in the TRMU gene, only in some patients with hereditary non-syndromic hearing loss of variable severity. | 30205178 |
| 2017-07-01 11:47:00 | The A10S mutation caused marked decreases in 2-thiouridine modification of U34 of tRNA(Lys), tRNA(Glu) and tRNA(Gln) However, the A10S mutation mildly increased the aminoacylated efficiency of tRNAs | 28049726 |
| 2015-08-29 11:18:00 | Results show that post-transcriptional expression of GTPBP3, MTO1 and TRMU genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids. | 25149473 |
| 2012-12-08 11:27:00 | An additional, heterozygous mutation was detected in TRMU/MTU1. Although subject myoblasts and myotubes contained half the normal levels of TRMU, thiolation of mitochondrial tRNAs was normal. | 22504945 |
| 2012-02-25 10:55:00 | MTU1 is not required for mitochondrial translation. | 21890497 |
| Type | IDs |
|---|---|
| Synonymous | LCAL3, MTO2, MTU1, TRMT, TRMT1 |
| Gene |
UniProtKB-ID:
MTU1_HUMAN,
Q2PPL4_HUMAN,
Q2PPL5_HUMAN
UniprotKB:
O75648,
Q2PPL4,
Q2PPL5
UniParc:
UPI00003765A7,
UPI00017BE78F,
UPI00000411E1,
UPI000067CB9F,
UPI0000E57415,
UPI000049D999,
UPI000049D998
EMBL:
DQ310000,
DQ309999,
AL031588,
AK290712,
CH471138,
AK001002,
BC080631,
AB178028,
AF448221,
CR456445,
DQ309998,
AY062123,
BC027991
Ensembl:
ENSG00000100416
KO:
hsa:55687
|
| Nucleutide sequences |
EMBL-CDS:
BAD66875.1,
BAF83401.1,
AAH27991.1,
AAL35970.1,
BAA91462.1,
EAW73426.1,
AAH80631.1,
AAL38183.1,
CAG30331.1,
EAW73422.1,
ABC46692.1,
ABC46691.1,
ABC46690.1
Ensembl_TRS:
ENST00000381019,
ENST00000457572,
ENST00000645190,
ENST00000456595,
ENST00000441818,
ENST00000381021,
ENST00000453630
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000496496,
ENSP00000407700,
ENSP00000370407,
ENSP00000413880,
ENSP00000370409,
ENSP00000393014,
ENSP00000398488
RefSeq:
NP_001269712.1,
XP_011528576.1,
XP_005261735.1,
NP_001269714.1,
NP_001269713.1,
XP_011528574.1,
XP_011528573.1,
XP_005261738.1,
XP_024308028.1,
NP_001269711.1,
XP_011528575.1,
NP_060476.2,
XP_011528577.1
|
| Others |
UniRef100:
UniRef100_O75648,
UniRef100_Q2PPL4,
UniRef100_Q2PPL5
UniRef90:
UniRef90_O75648,
UniRef90_Q2PPL5
UniRef50:
UniRef50_O75648,
UniRef50_Q2PPL5
UniGene:
Hs.439524
CCDS:
CCDS14075.1,
CCDS63510.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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