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Tdark Complex I assembly factor TIMMDC1, mitochondrial

Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I.

 Comments

Property Summary

NCBI Gene PubMed Count 23
PubMed Score 3.93
PubTator Score 5.61

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count
Arthritis 248
Multiple Sclerosis 498
Disease Target Count P-value
ovarian cancer 8491 6.6e-05
Disease Target Count Z-score Confidence
Juvenile rheumatoid arthritis 105 3.212 1.6
Primary biliary cirrhosis 45 0.0 2.0

Expression

  Differential Expression (1)

Disease log2 FC p
ovarian cancer 2.300 6.6e-05

Synonym

Accession Q9NPL8 D3DN81 Q6IAJ7 Q6UWU6 Q9NPR3 Q9NPS5 Q9P0Y6
Symbols C3orf1

Gene

TIMMDC1

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 UniProt Keyword (9)

 GO Component (4)

 GO Process (1)

 Compartment GO Term (35)

See all...

 IMPC Phenotype (2)

 MGI Phenotype (3)

 GWAS Trait (3)

 HCA RNA Cell Line (56)

See all...

Pathway (6)

Protein-protein Interaction (10)

NDUFAF6   NDUFAF5   TMEM126B   NDUFAF2   NDUFAF3   ARL5B   NDUFAF1   ECSIT   ACAD9   NDUFC2  

Gene RIF (5)

PMID Text
25391042 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.
24344204 Quantitative proteomics demonstrated a role for TIMMDC1 in assembly of membrane-embedded and soluble arms of the complex.
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20413980 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence 

MEVPPPAPRSFLCRALCLFPRVFAAEAVTADSEVLEERQKRLPYVPEPYYPESGWDRLRELFGKDEQQRI      1 - 70
SKDLANICKTAATAGIIGWVYGGIPAFIHAKQQYIEQSQAEIYHNRFDAVQSAHRAATRGFIRYGWRWGW     71 - 140
RTAVFVTIFNTVNTSLNVYRNKDALSHFVIAGAVTGSLFRINVGLRGLVAGGIIGALLGTPVGGLLMAFQ    141 - 210
KYSGETVQERKQKDRKALHELKLEEWKGRLQVTEHLPEKIESSLQEDEPENDAKKIEALLNLPRNPSVID    211 - 280
KQDKD                                                                     281 - 285
//

Text Mined References (26)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
25391042 2014 Depletion of C3orf1/TIMMDC1 inhibits migration and proliferation in 95D lung carcinoma cells.
24344204 2014 TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24191001 2013 Assembly factors for the membrane arm of human complex I.
23000144 2012 Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
22354554 2012 Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.
21833088 2011 Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
21269460 2011 Initial characterization of the human central proteome.
21048031 2011 Single 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.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20413980 2010 Genome-wide conditional search for epistatic disease-predisposing variants in human association studies.
16751776 2006 A germline-specific class of small RNAs binds mammalian Piwi proteins.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16381901 2006 The LIFEdb database in 2006.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11092749 2000 Identification and expression analysis of C3orf1, a novel human gene homologous to the Drosophila RP140-upstream gene.
11076863 2000 DNA cloning using in vitro site-specific recombination.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.