Homo sapiens Gene: NDUFS1
Summary
InnateDB Gene IDBG-79438.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NDUFS1
Gene Name NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
Synonyms CI-75k; CI-75Kd; PRO1304;
Species Homo sapiens
Ensembl Gene ENSG00000023228
Encoded Proteins
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:206114817-206159603
Strand Reverse strand
Band q33.3
Transcripts
ENST00000233190 ENSP00000233190
ENST00000455934 ENSP00000392709
ENST00000423725 ENSP00000397760
ENST00000457011 ENSP00000400976
ENST00000440274 ENSP00000409766
ENST00000432169 ENSP00000409689
ENST00000449699 ENSP00000399912
ENST00000456284 ENSP00000395553
ENST00000454195 ENSP00000389413
ENST00000498520
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 47 [view]
Protein-Protein 44 [view]
Protein-DNA 3 [view]
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:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0016651 oxidoreductase activity, acting on NAD(P)H
GO:0046872 metal ion binding
GO:0051536 iron-sulfur cluster binding
GO:0051537 2 iron, 2 sulfur cluster binding
GO:0051539 4 iron, 4 sulfur cluster binding
Biological Process
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0008637 apoptotic mitochondrial changes
GO:0022904 respiratory electron transport chain
GO:0042773 ATP synthesis coupled electron transport
GO:0044237 cellular metabolic process
GO:0044281 small molecule metabolic process
GO:0045333 cellular respiration
GO:0046034 ATP metabolic process
GO:0051881 regulation of mitochondrial membrane potential
GO:0055114 oxidation-reduction process
GO:0072593 reactive oxygen species metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0005758 mitochondrial intermembrane space
GO:0016020 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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.471207 Hs.597574 Hs.598436
RefSeq NM_001199981 NM_001199982 NM_001199983 NM_001199984 NM_005006
HUGO
OMIM
CCDS CCDS2366 CCDS56162 CCDS56163 CCDS56164 CCDS56165
HPRD 01145
IMGT
EMBL
GenPept
RNA Seq Atlas