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51300 TIMMDC1

51300

TIMMDC1

translocase of inner mitochondrial membrane domain containing 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition translocase of inner mitochondrial membrane domain containing 1

研究结论

Date Results Publications
2020-03-21 11:54:00 Whole exome sequencing of a patient with Leigh-like syndrome identified homozygous protein-truncating variants in TIMMDC1 which was predicted to truncate 61 amino acids at the C-terminus. Functional studies demonstrated a hypomorphic impact of the variant on CI assembly. However, the mutant protein could still rescue CI assembly in TIMMDC1 knockout cells. 30981218
2020-02-08 11:35:00 Data suggest that the hub genes NADH:ubiquinone oxidoreductase subunit B5 (NDUFB5), translocase of inner mitochondrial membrane domain containing 1 (TIMMDC1), and voltage-dependent anion channel 3 (VDAC3) might serve as potential biomarkers for diagnosis and/or therapeutic targets for precise treatment of septic cardiomyopathy (SC) . 31794266
2019-08-31 11:36:00 Findings suggest that TIMMDC1 may play an important role in human gastric cancer development, and its underlying mechanism is not only associated with mitochondrial complex I inhibition and reduced mitochondrial respiration, but is also associated with reduced glycolysis activity and the AKT/GSK3beta/beta-catenin signaling pathways. 30123074
2015-07-25 10:36:00 Cell-cycle arrest genes such as CCNG2 and PTEN as well as genes involved in cell migration inhibition, such as TIMP3 and COL3A1, were upregulated after C3orf1 depletion in 95D cells. 25391042
2014-04-26 10:52:00 Quantitative proteomics demonstrated a role for TIMMDC1 in assembly of membrane-embedded and soluble arms of the complex. 24344204

名称对应

Type IDs
Synonymous C3orf1, MC1DN31
Gene
UniProtKB-ID: TIDC1_HUMAN, C9JU35_HUMAN
UniprotKB: Q9NPL8, C9JU35
UniParc: UPI0000209FF6, UPI0000037B46
EMBL: AF210057, CR457158, AY358633, AL390077, CH471052, BC012341, AC073352, AF139077, AL390094, CR533524, AL136622, AL390090
Ensembl: ENSG00000113845
KO: hsa:51300
Nucleutide sequences
EMBL-CDS: CAB98251.1, EAW79568.1, AAG43510.1, AAF62372.1, CAB98201.1, CAG38555.1, AAQ88996.1, AAH12341.1, CAG33439.1, EAW79566.1, CAB66557.1, CAB98212.1
Gene_ORFName: UNQ247/PRO284
Ensembl_TRS: ENST00000494664, ENST00000493694
Protein sequencees
Ensembl_PRO: ENSP00000418803, ENSP00000419510
RefSeq: NP_057673.2, XP_016862045.1
Others
UniRef100: UniRef100_Q9NPL8, UniRef100_C9JU35
UniRef90: UniRef90_Q9NPL8, UniRef90_C9JU35
UniRef50: UniRef50_Q9NPL8, UniRef50_C9JU35
UniGene: Hs.477287
CCDS: CCDS33831.1

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