Version 5.4
Homo sapiens Protein: NDUFAF6
Summary
InnateDB Protein IDBP-483520.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFAF6
Protein Name chromosome 8 open reading frame 38
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000428788
InnateDB Gene IDBG-29287 (NDUFAF6)
Protein Structure
UniProt Annotation
Function Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1. {ECO:0000269PubMed:18614015, ECO:0000269PubMed:22019594}.
Subcellular Localization Isoform 1: Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane.Isoform 2: Cytoplasm. Nucleus.
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:18614015}. 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 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0016740 transferase activity
Biological Process
GO:0009058 biosynthetic process
GO:0032981 mitochondrial respiratory chain complex I assembly
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005743 mitochondrial inner membrane
Protein Structure and Domains
PDB ID
InterPro IPR008949 Terpenoid synthase
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q330K2
PhosphoSite PhosphoSite-Q330K2
TrEMBL H0YC61
UniProt Splice Variant
Entrez Gene 137682
UniGene Hs.737324
RefSeq
HUGO HGNC:28625
OMIM 612392
CCDS
HPRD
IMGT
EMBL AC018801 AC068189 AC087752 AK298631 AY444560 BC028166 CH471060
GenPept AAH28166 AAS68536 BAG60807 EAW91734

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