InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NDUFA1

Summary

InnateDB Protein

IDBP-84070.4

Last Modified

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

Gene Symbol

NDUFA1

Protein Name

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa

Synonyms

CI-MWFE; MWFE; ZNF183;

Species

Homo sapiens

Ensembl Protein

ENSP00000360492

InnateDB Gene

IDBG-84068 (NDUFA1)

Protein Structure

UniProt Annotation

Function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.

Subcellular Localization

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.

Disease Associations

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:17262856}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Primarily expressed in heart and skeletal muscle.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.

Experimentally validated
Total	8 [view]
Protein-Protein	5 [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

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

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005747	mitochondrial respiratory chain complex I
GO:0016021	integral component of membrane
GO:0031966	mitochondrial membrane