Version 5.4
Homo sapiens Gene: NDUFAF1
Summary
InnateDB Gene IDBG-7042.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFAF1
Gene Name NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000137806
Encoded Proteins
IDBP-7044
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1
IDBP-601079
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1
IDBP-589105
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1
IDBP-597620
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:41387349-41402519
Strand Reverse strand
Band q15.1
Transcripts
ENST00000260361 ENSP00000260361
ENST00000559127 ENSP00000453027
ENST00000560978 ENSP00000453944
ENST00000558719 ENSP00000454083
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 17 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0051082 unfolded protein binding
Biological Process
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0006461 protein complex assembly
Cellular Component
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005747 mitochondrial respiratory chain complex I
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000027305
View Gene Order
ENSBTAG00000010778
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.106529 Hs.593144
RefSeq NM_016013 XM_006720555 XM_006720556 XM_006720558
HUGO
OMIM
CCDS CCDS10075
HPRD 09500
IMGT
EMBL
GenPept
RNA Seq Atlas

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