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25821 MTO1

25821

MTO1

mitochondrial tRNA translation optimization 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition mitochondrial tRNA translation optimization 1

研究结论

Date Results Publications
2020-08-15 19:03:00 CircMTO1 inhibits liver fibrosis via regulation of miR-17-5p and Smad7. 31148365
2019-03-09 11:38:00 Low MTO1 expression is associated with Mitochondrial diseases in neoplasms. 28740091
2018-12-29 11:30:00 Two novel variants (c.[253G > A];[938G > A]) in the MTO1 gene were identified in a child with cardiomyopathy with early-onset brain disease. 29440775
2018-12-22 10:25:00 MTO1 deficiency is lethal in some but not all cases, and a genotype-phenotype relation is suggested. Aside from lactic acidosis and cardiomyopathy, developmental delay and other phenotypic features affecting multiple organ systems are often present in these patients, suggesting a broader spectrum than hitherto reported. 29331171
2018-11-24 12:06:00 Defects in the mitochondrial tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARgamma-UCP2-AMPK axis. 29348686

名称对应

Type IDs
Synonymous CGI-02, COXPD10
Gene
UniProtKB-ID: MTO1_HUMAN
UniprotKB: Q9Y2Z2
UniParc: UPI0001639C21, UPI000002AE74, UPI000002AE72, UPI000002AE73, UPI000002AE75, UPI000012F816
EMBL: AF319422, AF469110, AK225828, BC011051, AF469111, AK074625, CH471051, AY078985, BC005808, AY078986, AF132937, AL833823, AL603910, AF442963
Ensembl: ENSG00000135297
KO: hsa:25821
Nucleutide sequences
EMBL-CDS: AAD27712.1, BAG51977.1, EAW48762.1, AAL85491.1, AAL82394.1, AAG42814.3, CAD38685.1, AAL82395.1, AAH05808.2, AAL85490.1, AAL35894.1, AAH11051.2
Gene_ORFName: CGI-02
Ensembl_TRS: ENST00000415954, ENST00000370300, ENST00000370305, ENST00000498286
Protein sequencees
Ensembl_PRO: ENSP00000419561, ENSP00000359323, ENSP00000402038, ENSP00000359328
RefSeq: NP_001116698.1, NP_036255.2, NP_598400.1
Others
UniRef100: UniRef100_Q9Y2Z2
UniRef90: UniRef90_Q9Y2Z2
UniRef50: UniRef50_Q9Y2Z2
UniGene: Hs.347614
CCDS: CCDS34485.1, CCDS4979.1, CCDS47452.1

全选

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