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Tclin
NDUFAF1
Complex I intermediate-associated protein 30, mitochondrial

Protein Summary
Description
Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000260361
  • ENSP00000260361
  • ENSG00000137806

Symbol
  • CIA30
  • CGI65
  • CIA30
  • CGI-65
  • MC1DN11
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.92
disease perturbation
0.87
protein complex
0.74
cell type or tissue
0.67
kinase perturbation
0.66


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 15.69   (req: < 5)
Gene RIFs: 7   (req: <= 3)
Antibodies: 141   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 15.69   (req: >= 5)
Gene RIFs: 7   (req: > 3)
Antibodies: 141   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
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ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (1)
1 – 1 of 1
metformin
Rendered image for metformin
Protein-Protein Interactions (129)
1 – 10 of 129
ECSIT
Tbio
Novelty:  0.04690184
p_int:  0.99999403
p_ni:  0.00000597
Score:  0.999
Data Source:  BioPlex,Reactome,STRINGDB
ACAD9
Tbio
Family:  Enzyme
Novelty:  0.03238308
p_int:  0.999990638
p_ni:  0.000009362
Score:  0.996
Data Source:  BioPlex,Reactome,STRINGDB
PPP2R2D
Tbio
Family:  Enzyme
Novelty:  0.0658328
p_int:  0.999938476
p_ni:  0.000061524
Score:  0.351
Data Source:  BioPlex,STRINGDB
NDUFA13
Tclin
Family:  Enzyme
Novelty:  0.01605077
p_int:  0.999821759
p_ni:  0.000178241
Score:  0.986
Data Source:  BioPlex,STRINGDB
NDUFAF4
Tclin
Family:  Enzyme
Novelty:  0.10799507
p_int:  0.999819154
p_ni:  0.000180846
Score:  0.983
Data Source:  BioPlex,STRINGDB
TMEM9
Tbio
Novelty:  0.06916197
p_int:  0.999419842
p_ni:  0.000580158
Data Source:  BioPlex
LPAR1
Tchem
Family:  GPCR
Novelty:  0.00318056
p_int:  0.998711181
p_ni:  0.001288819
Score:  0.173
Data Source:  BioPlex,STRINGDB
NDUFS7
Tclin
Family:  Enzyme
Novelty:  0.01562198
p_int:  0.998579068
p_ni:  0.001420932
Score:  0.981
Data Source:  BioPlex,STRINGDB
NDUFA8
Tclin
Family:  Enzyme
Novelty:  0.05772867
p_int:  0.997359201
p_ni:  0.002640799
Score:  0.955
Data Source:  BioPlex,STRINGDB
TIMMDC1
Tbio
Novelty:  0.13365668
p_int:  0.996794126
p_ni:  0.003205874
Score:  0.992
Data Source:  BioPlex,STRINGDB
Pathways (13)
Complex I biogenesis (R-HSA-6799198)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Complex I biogenesis
Reactome
Metabolism
Reactome
Respiratory electron transport
Reactome
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Reactome
The citric acid (TCA) cycle and respiratory electron transport
Name
Explore in Pharos
Explore in Source
Complex I biogenesis
Metabolism
Respiratory electron transport
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
The citric acid (TCA) cycle and respiratory electron transport
Gene Ontology Terms (8)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
GWAS Traits (17)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
eosinophil percentage of leukocytes
2
2
2
80.6
lymphocyte percentage of leukocytes
2
2
2
74.6
childhood onset asthma
1
1
0
1.1
70.2
3
2
0
1
66
3
2
0
1
62
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
eosinophil percentage of leukocytes
2
80.6
lymphocyte percentage of leukocytes
2
74.6
childhood onset asthma
0
1.1
70.2
0
1
66
0
1
62
Find similar targets by:
Orthologs (15)
1 – 5 of 15
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
NADH:ubiquinone oxidoreductase complex assembly factor 1
VGNC:6464
739838
Mouse
MGI:1916952
69702
Rat
RGD:1306202
296086
Dog
NADH:ubiquinone oxidoreductase complex assembly factor 1
VGNC:43691
487505
Horse
NADH:ubiquinone oxidoreductase complex assembly factor 1
VGNC:20629
100071164
Species
Name
OMA
EggNOG
Inparanoid
Chimp
NADH:ubiquinone oxidoreductase complex assembly factor 1
Mouse
Rat
Dog
NADH:ubiquinone oxidoreductase complex assembly factor 1
Horse
NADH:ubiquinone oxidoreductase complex assembly factor 1
Publication Statistics
PubMed Score 15.69
PubMed score by year
PubTator Score 12.10
PubTator score by year