InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDUFV1

Summary

InnateDB Protein

IDBP-583530.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NDUFV1

Protein Name

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

Synonyms

CI-51K; CI51KD; UQOR1;

Species

Homo sapiens

Ensembl Protein

ENSP00000436766

InnateDB Gene

IDBG-60805 (NDUFV1)

Protein Structure

UniProt Annotation

Function

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). {ECO:0000250}.

Subcellular Localization

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Disease Associations

Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269PubMed:10080174}. Note=The disease is caused by mutations affecting the gene represented in this entry.Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269PubMed:10080174, ECO:0000269PubMed:11349233}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 40 experimentally validated interaction(s) in this database.

Experimentally validated
Total	40 [view]
Protein-Protein	37 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0008137	NADH dehydrogenase (ubiquinone) activity
GO:0010181	FMN binding
GO:0016651	oxidoreductase activity, acting on NAD(P)H
GO:0046872	metal ion binding
GO:0051287	NAD binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0006120	mitochondrial electron transport, NADH to ubiquinone
GO:0022904	respiratory electron transport chain
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005743	mitochondrial inner membrane
GO:0005747	mitochondrial respiratory chain complex I

Protein Structure and Domains

PDB ID

InterPro

IPR011537 NADH ubiquinone oxidoreductase, F subunit
IPR011538 NADH:ubiquinone oxidoreductase, 51kDa subunit
IPR019554 Soluble ligand binding domain
IPR019575 NADH ubiquinone oxidoreductase, F subunit, iron sulphur binding

PFAM

PF01512
PF10531
PF10589

PRINTS

PIRSF

SMART

SM00928

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P49821