Version 5.4
Homo sapiens Gene: NDUFAF6
Summary
InnateDB Gene IDBG-29287.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFAF6
Gene Name NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000156170
Encoded Proteins
IDBP-238181
chromosome 8 open reading frame 38
IDBP-238185
chromosome 8 open reading frame 38
IDBP-238187
chromosome 8 open reading frame 38
IDBP-374008
chromosome 8 open reading frame 38
IDBP-484585
chromosome 8 open reading frame 38
IDBP-485184
chromosome 8 open reading frame 38
IDBP-483520
chromosome 8 open reading frame 38
IDBP-481704
chromosome 8 open reading frame 38
IDBP-473372
chromosome 8 open reading frame 38
IDBP-475689
chromosome 8 open reading frame 38
IDBP-484580
chromosome 8 open reading frame 38
IDBP-484221
chromosome 8 open reading frame 38
IDBP-475761
chromosome 8 open reading frame 38
IDBP-485120
chromosome 8 open reading frame 38
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:94895767-95116455
Strand Forward strand
Band q22.1
Transcripts
ENST00000396124 ENSP00000379430
ENST00000396113 ENSP00000379419
ENST00000396111 ENSP00000379417
ENST00000454358 ENSP00000404060
ENST00000523378 ENSP00000428034
ENST00000519136 ENSP00000429585
ENST00000521587
ENST00000521840
ENST00000518258 ENSP00000428788
ENST00000523337 ENSP00000429038
ENST00000517976 ENSP00000430099
ENST00000520632 ENSP00000428666
ENST00000522683 ENSP00000430991
ENST00000518608 ENSP00000428410
ENST00000520757 ENSP00000430311
ENST00000519804 ENSP00000430230
ENST00000523184
ENST00000521063
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:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000050323
View Gene Order
ENSBTAG00000007570
Not yet available
Cross-References
SwissProt
TrEMBL E5RHX9
UniProt Splice Variant
Entrez Gene 137682
UniGene Hs.611521 Hs.737324
RefSeq NM_152416 XM_005250789
HUGO HGNC:28625
OMIM 612392
CCDS CCDS6266
HPRD
IMGT
EMBL AC018801 AC068189 AC087752
GenPept
RNA Seq Atlas 100506538 137682

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