TIMMDC1 (translocase of inner mitochondrial membrane domain containing 1)

2021-06-01  

Identity

HGNC
LOCATION
3q13.33
LOCUSID
ALIAS
C3orf1,MC1DN31

Other Information

Locus ID:

NCBI: 51300
MIM: 615534
HGNC: 1321
Ensembl: ENSG00000113845

Variants:

dbSNP: 51300
ClinVar: 51300
TCGA: ENSG00000113845
COSMIC: TIMMDC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113845ENST00000264244G3XA94
ENSG00000113845ENST00000463927F8WAU6
ENSG00000113845ENST00000466984C9JR82
ENSG00000113845ENST00000486418F8WB00
ENSG00000113845ENST00000492164F8WC42
ENSG00000113845ENST00000493694C9JU35
ENSG00000113845ENST00000494664Q9NPL8
ENSG00000113845ENST00000498399H7C5U1

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105
Complex I biogenesisREACTOMER-HSA-6799198

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
243442042014TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex.28
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
210480312011Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.5
204139802010Genome-wide conditional search for epistatic disease-predisposing variants in human association studies.3
253910422014Depletion of C3orf1/TIMMDC1 inhibits migration and proliferation in 95D lung carcinoma cells.2
301230742018TIMMDC1 Knockdown Inhibits Growth and Metastasis of Gastric Cancer Cells through Metabolic Inhibition and AKT/GSK3β/β-Catenin Signaling Pathway.2
317942662020Potentially Critical Roles of NDUFB5, TIMMDC1, and VDAC3 in the Progression of Septic Cardiomyopathy Through Integrated Bioinformatics Analysis.1
309812182019A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.0

Citation

Dessen P

TIMMDC1 (translocase of inner mitochondrial membrane domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58267/timmdc1