Homo sapiens Gene: NDUFA1
Summary
InnateDB Gene IDBG-84068.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFA1
Gene Name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
Synonyms CI-MWFE; MWFE; ZNF183;
Species Homo sapiens
Ensembl Gene ENSG00000125356
Encoded Proteins
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]
The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the "hydrophobic protein" (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1 peptide may also participate in that function. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:119871487-119876662
Strand Forward strand
Band q24
Transcripts
ENST00000371437 ENSP00000360492
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 5 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008137 NADH dehydrogenase (ubiquinone) activity
Biological Process
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0022904 respiratory electron transport chain
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0016021 integral component of membrane
GO:0031966 mitochondrial 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
Pathways
NETPATH
REACTOME
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway
The citric acid (TCA) cycle and respiratory electron transport pathway
Metabolism pathway
Respiratory electron transport pathway
KEGG
Oxidative phosphorylation pathway
Alzheimer's disease pathway
Parkinson's disease pathway
Huntington's disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O15239
TrEMBL Q6IBB5
UniProt Splice Variant
Entrez Gene 4694
UniGene
RefSeq NM_004541
HUGO HGNC:7683
OMIM 300078
CCDS CCDS14590
HPRD 02093
IMGT
EMBL AB451304 AB451435 BC000266 CH471161 CR456889 U54993 X81900
GenPept AAD00084 AAH00266 BAG70118 BAG70249 CAA57489 CAG33170 EAW89840
RNA Seq Atlas 4694