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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TIMMDC1
translocase of inner mitochondrial membrane domain containing 1
Chromosome 3 Β· 3q13.33
NCBI Gene: 51300Ensembl: ENSG00000113845.10HGNC: HGNC:1321UniProt: C9JU35
71PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmmitochondrionprotein bindingmitochondrial inner membranemitochondrial complex I deficiency, nuclear type 31mitochondrial complex I deficiencyneurodegenerative diseaseprimary biliary cirrhosis
✦AI Summary

TIMMDC1 (translocase of inner mitochondrial membrane domain containing 1) is a crucial chaperone protein that facilitates the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) 1. The protein localizes to the mitochondrial inner membrane and specifically participates in constructing the membrane arm of complex I 2. TIMMDC1's stability is regulated by C9orf72, which recruits the prohibitin complex to prevent m-AAA protease-dependent degradation of TIMMDC1 1. Beyond complex I assembly, TIMMDC1 functions as a respirasome assembly factor, with its depletion leading to accumulation of respirasome subcomplexes in both cell lines and patient-derived cells with disease-causing TIMMDC1 mutations 2. The protein plays important roles in cellular energy metabolism, as TIMMDC1 knockdown significantly reduces mitochondrial complex I activity, mitochondrial respiration, ATP-linked oxygen consumption, and glycolysis activity 3. Clinically, TIMMDC1 is associated with mitochondrial complex I deficiency and has emerged as a potential biomarker in various pathological conditions including septic cardiomyopathy, gastric cancer, and esophageal squamous cell carcinoma 435. The protein's expression is regulated by m6A methylation through METTL3, influencing cellular proliferation and immune responses 6.

Sources cited
1
TIMMDC1 is stabilized by C9orf72 through prohibitin complex recruitment to prevent protease degradation
PMID: 33545050
2
TIMMDC1 functions as a respirasome assembly factor and its depletion causes respirasome subcomplex accumulation
PMID: 33852835
3
TIMMDC1 knockdown reduces mitochondrial complex I activity, respiration, and cellular energy metabolism
PMID: 30123074
4
TIMMDC1 is identified as a potential biomarker for septic cardiomyopathy
PMID: 31794266
5
TIMMDC1 serves as a prognostic molecule in esophageal squamous cell carcinoma
PMID: 38652547
6
TIMMDC1 expression is regulated by METTL3-mediated m6A methylation
PMID: 40409178
Disease Associationsβ“˜21
mitochondrial complex I deficiency, nuclear type 31Open Targets
0.66Moderate
mitochondrial complex I deficiencyOpen Targets
0.62Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
primary biliary cirrhosisOpen Targets
0.43Moderate
mitochondrial diseaseOpen Targets
0.37Weak
hypothyroidismOpen Targets
0.36Weak
multiple sclerosisOpen Targets
0.34Weak
mitochondrial complex I deficiency, nuclear type 1Open Targets
0.32Weak
myxedemaOpen Targets
0.29Weak
systemic lupus erythematosusOpen Targets
0.28Weak
sialolithiasisOpen Targets
0.25Weak
autoimmune thyroid diseaseOpen Targets
0.20Weak
biliary liver cirrhosisOpen Targets
0.19Weak
thyroid diseaseOpen Targets
0.16Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.09Suggestive
systemic sclerodermaOpen Targets
0.08Suggestive
lung carcinomaOpen Targets
0.06Suggestive
esophageal squamous cell carcinomaOpen Targets
0.05Suggestive
gastric cancerOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
Mitochondrial complex I deficiency, nuclear type 31UniProt
Pathogenic Variants8
NM_016589.4(TIMMDC1):c.597-1340A>GPathogenic
Mitochondrial complex I deficiency, nuclear type 31|not provided
β˜…β˜…β˜†β˜†2025
NM_016589.4(TIMMDC1):c.1A>G (p.Met1Val)Pathogenic
Mitochondrial complex I deficiency, nuclear type 31|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1
NM_016589.4(TIMMDC1):c.385C>T (p.Arg129Ter)Pathogenic
Mitochondrial complex I deficiency, nuclear type 31|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 129
NM_016589.4(TIMMDC1):c.361-2A>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_016589.4(TIMMDC1):c.414G>A (p.Trp138Ter)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 31
β˜…β˜†β˜†β˜†2023β†’ Residue 138
NM_016589.4(TIMMDC1):c.194+2T>CLikely pathogenic
Mitochondrial complex I deficiency, nuclear type 31
β˜…β˜†β˜†β˜†2023
NM_016589.4(TIMMDC1):c.191_192del (p.Lys64fs)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 1
β˜…β˜†β˜†β˜†2023β†’ Residue 64
NM_016589.4(TIMMDC1):c.596+1delLikely pathogenic
Mitochondrial complex I deficiency, nuclear type 31
β˜…β˜†β˜†β˜†2022
View on ClinVar β†—
Related Genes
NDUFAF8Shared pathway100%DMAC1Shared pathway100%LYRM2Shared pathway100%NDUFC2Protein interaction100%NDUFB3Protein interaction100%NDUFB11Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
30%
Lung
30%
Liver
30%
Ovary
24%
Bone Marrow
13%
Gene Interaction Network
Click a node to explore
TIMMDC1NDUFAF8DMAC1LYRM2NDUFC2NDUFB3NDUFB11
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NPL8
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.50–1.02]
RankingsWhere TIMMDC1 stands among ~20K protein-coding genes
  • #6,685of 20,598
    Most Researched71
  • #3,071of 5,498
    Most Pathogenic Variants8
  • #10,074of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedTIMMDC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
New insights into the role of mitochondrial metabolic dysregulation and immune infiltration in septic cardiomyopathy by integrated bioinformatics analysis and experimental validation.
PMID: 38291374
Cell Mol Biol Lett Β· 2024
1.00
2
C9orf72 regulates energy homeostasis by stabilizing mitochondrial complex I assembly.
PMID: 33545050
Cell Metab Β· 2021
0.90
3
Multi-omics characterization of esophageal squamous cell carcinoma identifies molecular subtypes and therapeutic targets.
PMID: 38652547
JCI Insight Β· 2024
0.80
4
TIMMDC1 Knockdown Inhibits Growth and Metastasis of Gastric Cancer Cells through Metabolic Inhibition and AKT/GSK3Ξ²/Ξ²-Catenin Signaling Pathway.
PMID: 30123074
Int J Biol Sci Β· 2018
0.70
5
Integrated bioinformatics and experiment validation reveal cuproptosis-related biomarkers and therapeutic targets in sepsis-induced myocardial dysfunction.
PMID: 40165133
BMC Infect Dis Β· 2025
0.60