Version 5.4
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
IDBP-79440
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
IDBP-388554
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
IDBP-388555
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
IDBP-388556
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
IDBP-388557
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
IDBP-388558
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
IDBP-388559
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
IDBP-388560
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
IDBP-388561
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
ENSMUSG00000025968
View Gene Order
ENSBTAG00000021976
Not yet available
Pathways
NETPATH
REACTOME
REACT_22393
Respiratory electron transport pathway
REACT_6305
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway
REACT_111083
The citric acid (TCA) cycle and respiratory electron transport pathway
REACT_111217
Metabolism pathway
KEGG
hsa05010
Alzheimer's disease pathway
hsa00190
Oxidative phosphorylation pathway
hsa05012
Parkinson's disease pathway
hsa05016
Huntington's disease pathway
INOH
PID NCI
Cross-References
SwissProt P28331
TrEMBL B4DJ81 Q9P1A0
UniProt Splice Variant
Entrez Gene 4719
UniGene Hs.471207 Hs.597574 Hs.598436
RefSeq NM_001199981 NM_001199982 NM_001199983 NM_001199984 NM_005006
HUGO HGNC:7707
OMIM 157655
CCDS CCDS56164 CCDS2366 CCDS56162 CCDS56163 CCDS56165
HPRD 01145
IMGT
EMBL AC007383 AF119845 AK295705 AK295966 AK295987 AK298320 AK300585 BC012068 BC022368 BC030833 CH471063 X61100
GenPept AAF69599 AAH12068 AAH22368 AAH30833 AAY15061 BAG58551 BAG58743 BAG58762 BAG60573 BAG62283 CAA43412 EAW70379
RNA Seq Atlas 4719

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