Type | Description |
---|---|
Definition | translocase of inner mitochondrial membrane domain containing 1 |
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 |
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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Refseq |
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