Version 5.4
Homo sapiens Protein: NDUFAF3
Summary
InnateDB Protein IDBP-34080.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFAF3
Protein Name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3
Synonyms 2P1; C3orf60; E3-3;
Species Homo sapiens
Ensembl Protein ENSP00000323076
InnateDB Gene IDBG-34076 (NDUFAF3)
Protein Structure
UniProt Annotation
Function Essential factor for the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). {ECO:0000269PubMed:19463981}.
Subcellular Localization Nucleus {ECO:0000250}. Mitochondrion inner membrane {ECO:0000269PubMed:19463981}.
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:19463981}. 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 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0032981 mitochondrial respiratory chain complex I assembly
Cellular Component
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
Protein Structure and Domains
PDB ID
InterPro IPR007523 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3
PFAM PF04430
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BU61
PhosphoSite PhosphoSite-Q9BU61
TrEMBL A4FU71
UniProt Splice Variant
Entrez Gene 25915
UniGene Hs.31387
RefSeq NP_951032
HUGO HGNC:29918
OMIM 612911
CCDS CCDS2784
HPRD 16809
IMGT
EMBL BC002873 BC111004 BQ652614 CH471055
GenPept AAH02873 AAI11005 EAW64944 EAW64945

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca