Tclin NDUFV1 NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial

Protein Summary

Description

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity). The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

Uniprot Accession IDs

• P49821
• O60924
• O60940
• Q16104
• Q6IBR3
• Q96BF8
• Q96HS7

Gene Name

• NDUFV1

Ensembl ID

• ENST00000322776
• ENSP00000322450
• ENSG00000167792
• ENST00000529927
• ENSP00000436766
• ENST00000647561
• ENSP00000497587

Symbol

• UQOR1
• UQOR1
• CI-51K
• CI51KD
• MC1DN4

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	1
co-expressed gene	0.99
histone modification site profile	0.91
molecular function	0.88
transcription factor binding site profile	0.87

Protein Classes

No PANTHER Classes or DTO Classes found

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: 61.36   (req: < 5)

Gene RIFs: 14   (req: <= 3)

Antibodies: 235   (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: 61.36   (req: >= 5)

Gene RIFs: 14   (req: > 3)

Antibodies: 235   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8

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