Homo sapiens Gene: NDUFAF5
Summary
InnateDB Gene IDBG-54834.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFAF5
Gene Name NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000101247
Encoded Proteins
chromosome 20 open reading frame 7
chromosome 20 open reading frame 7
chromosome 20 open reading frame 7
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes a mitochondrial protein that is associated with the matrix face of the mitochondrial inner membrane and is required for complex I assembly. A mutation in this gene results in mitochondrial complex I deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:13784950-13821582
Strand Forward strand
Band p12.1
Transcripts
ENST00000378106 ENSP00000367346
ENST00000378081 ENSP00000437325
ENST00000463598 ENSP00000420497
ENST00000485738
ENST00000477732
ENST00000475968
ENST00000481249
ENST00000476536
ENST00000469177
ENST00000464269
ENST00000479716
ENST00000487478
ENST00000476124
ENST00000476200
ENST00000479682
ENST00000486772
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 1 [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:0003674 molecular_function
GO:0008168 methyltransferase activity
Biological Process
GO:0008152 metabolic process
GO:0032259 methylation
GO:0032981 mitochondrial respiratory chain complex I assembly
Cellular Component
GO:0005739 mitochondrion
GO:0031314 extrinsic component of mitochondrial inner membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt Q5TEU4
TrEMBL
UniProt Splice Variant
Entrez Gene 79133
UniGene Hs.472165
RefSeq NM_001039375 XM_006723622 NM_024120
HUGO HGNC:15899
OMIM 612360
CCDS CCDS33441 CCDS13118
HPRD 12780
IMGT
EMBL AK025977 AK289781 AL109657 AL161659 BC005984 BC073158 CH471133
GenPept AAH05984 AAH73158 BAB15305 BAF82470 CAI15136 CAI15137 CAI22985 CAI22986 EAX10311
RNA Seq Atlas 79133