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54974 THG1L

54974

THG1L

tRNA-histidine guanylyltransferase 1 like

protein-coding

Homo sapiens

基因描述

Type Description
Definition tRNA-histidine guanylyltransferase 1 like

研究结论

Date Results Publications
2018-02-10 10:34:00 Study proposes that homozygosity for the p.Val55Ala mutation in tRNA-histidine guanylyltransferase 1 like (THG1L) is the cause of the abnormal mitochondrial network in the patient fibroblasts, likely by interfering with THG1L activity towards MFN2. 27307223
2015-12-15 15:26:00 The high-resolution crystal structure of human Thg1 reveals remarkable structural similarity between canonical DNA/RNA polymerases and eukaryotic Thg1. 22136300
2015-01-17 10:46:00 IHG-1 is a novel regulator of both mitochondrial dynamics and bioenergetic function and contributes to cell survival following oxidant stress. Increased IHG-1 expression may contribute to pathogenesis of diabetic kidney disease. 25008184
2012-09-13 15:53:00 IHG-1 increases mitochondrial biogenesis by promoting PGC-1alpha-dependent processes, potentially contributing to the pathogenesis of renal fibrosis 21784897
2011-01-22 10:44:00 The catalytic domain of Thg1 shares both a common architecture and a two-metal ion-dependent mechanism with canonical 5'-3' DNA polymerases. 21078997

名称对应

Type IDs
Synonymous ICF45, IHG-1, hTHG1
Gene
UniProtKB-ID: THG1_HUMAN, Q9H8R6_HUMAN, B4E366_HUMAN
UniprotKB: Q9NWX6, Q9H8R6, B4E366
UniParc: UPI00004804EE, UPI000006E264, UPI0000073782
EMBL: AK223119, AY463216, AK021663, AL136669, CR533503, CH471062, BC001852, BC023521, AK000553, BC001523, AK023355, AK304590
Ensembl: ENSG00000113272
KO: hsa:54974
Nucleutide sequences
EMBL-CDS: CAG38534.1, EAW61590.1, CAB66604.1, BAB13870.1, AAH23521.1, AAH01852.2, EAW61591.1, AAH01523.2, BAD96839.1, BAA91249.1, AAS21134.1, BAB14540.1, BAG65378.1
Ensembl_TRS: ENST00000231198
Protein sequencees
Ensembl_PRO: ENSP00000231198
RefSeq: NP_001304755.1, NP_001304754.1, NP_001304753.1, NP_060342.2, XP_016865092.1
Others
UniRef100: UniRef100_Q9NWX6, UniRef100_B4E366
UniRef90: UniRef90_B4E366, UniRef90_Q9NWX6
UniRef50: UniRef50_A0A673VQI7, UniRef50_Q9NWX6
UniGene: Hs.353090
CCDS: CCDS4341.1

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