Version 5.4
Homo sapiens Protein: NDUFAF4
Summary
InnateDB Protein IDBP-94481.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFAF4
Protein Name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000358272
InnateDB Gene IDBG-94479 (NDUFAF4)
Protein Structure
UniProt Annotation
Function Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). May be involved in cell proliferation and survival of hormone-dependent tumor cells. May be a regulator of breast tumor cell invasion. {ECO:0000269PubMed:14871833, ECO:0000269PubMed:17001319, ECO:0000269PubMed:18179882}.
Subcellular Localization Mitochondrion {ECO:0000269PubMed:18179882}.
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:18179882}. 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 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 7 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005516 calmodulin binding
Biological Process
GO:0010257 NADH dehydrogenase complex assembly
GO:0032981 mitochondrial respiratory chain complex I assembly
Cellular Component
GO:0005739 mitochondrion
GO:0031966 mitochondrial membrane
Protein Structure and Domains
PDB ID
InterPro IPR009622 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
PFAM PF06784
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9P032
PhosphoSite PhosphoSite-Q9P032
TrEMBL
UniProt Splice Variant
Entrez Gene 29078
UniGene Hs.606533
RefSeq NP_054884
HUGO HGNC:21034
OMIM 611776
CCDS CCDS5037
HPRD 10795
IMGT
EMBL AF060508 AF161474 AK311850 AL159985 BC039464 CH471051
GenPept AAF29089 AAG43126 AAH39464 BAG34792 CAC38368 EAW48501

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