NADH-derived electrons can enter its mitochondrial respiratory chain either via a proton-translocating complex I NADH-dehydrogenase or via three putative alternative NADH dehydrogenases. We'd like to inform you that we have updated our Privacy Notice to comply Synonym: Complex 1, mitochondrial respiratory chain, 49-KD subunit, NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase), NADH dehydrogenase (ubiquinone) Fe-S protein 2, NADH-ubiquinone oxidoreductase NDUFS2 subunit SWISS-MODEL Repository - a database of annotated 3D protein structure models, Database of comparative protein structure models, Protein Data Bank in Europe - Knowledge Base, evolutionary genealogy of genes: Non-supervised Orthologous Groups, The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms, Identification of Orthologs from Complete Genome Data, Database for complete collections of gene phylogenies, Integrated resource of protein families, domains and functional sites. These are stable identifiers and should be used to cite UniProtKB entries. This enzyme is part of the PDH multienzyme complex. Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993))

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This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. The chemical reaction these enzymes catalyze are generally represented with the follow equation; The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the IntAct database. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.

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A UniProt proteome can consist of several components.

The component name refers to the genomic component encoding a set of proteins.

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This section provides information on the location and the topology of the mature protein in the cell.

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Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.

612638 - NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, 11; NDUFA11 - NDUFA11 In affected offspring from 3 consanguineous families of Israeli Bedouin origin with severe mitochondrial complex I deficiency nuclear type 14 (MC1DN14; 618236), Berger et al. MT-ND5 and the rest of the mitochondrially encoded subunits are the most hydrophobic of the subunits of Complex I and form the core of the transmembrane region. In Escherichia coli the expression of the nuo genes encoding the proton pumping NADH dehydrogenase I is stimulated by the presence of fumarate during anaerobic respiration.

This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s).

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. [11] Those with MT-ND5 mutations can display the major features of MELAS and MERRF in some patients, as well as symptoms of Leigh's syndrome and/or Leber's hereditary optic neuropathy (LHON) in others. We have already reported the neuroprotective effect of crude extract of A. africana [5] Variations in human MT-ND5 are associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) as well as some symptoms of Leigh's syndrome and Leber's hereditary optic neuropathy (LHON). NADH-succinate dehydrogenase is a mitochondria enzyme used as a biomarker of mitochondria integrity. MITOCHONDRIAL COMPLEX I - ACCESSORY SUBUNITS - The NADH dehydrogenase activities of membranes (0.4 to 0.5 μmol min −1 mg −1) did not differ significantly in the mutant and the wild-type strains, suggesting that the lack of a functional Na +-NQR complex in the mutant was compensated for by a nonelectrogenic NADH dehydrogenase encoded on the genome of V. cholerae. The information is filed in different subsections. Related topics 3 relations. Complex I functions in the transfer of electrons from NADH to the respiratory chain. J. Med. All positional information in this entry refers to it.

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This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (UniRef).

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This section is used to point to information related to entries and found in data collections other than UniProtKB.

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This section provides general information on the entry.

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This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier.

More information in the GO evidence code guide

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This subsection of the 'Subcellular location' section describes the extent of a membrane-spanning region of the protein. Found in a patient with histiocytoid cardiomyopathy; unknown pathological significance. J Biol Chem. [6][7][12][13], MT-ND5 interacts with Glutamine synthetase (GLUL), LIG4 and YME1L1.[4]. It also includes information pertinent to the sequence(s), including length and molecular weight. [5], The MT-ND5 product is a subunit of the respiratory chain Complex I that is supposed to belong to the minimal assembly of core proteins required to catalyze NADH dehydrogenation and electron transfer to ubiquinone (coenzyme Q10). [4] The ND5 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. 2018. NDH-1, encoded by the nuoA-N operon (PA2637-2649), is homologous to the mitochondrial complex I, and has a fused nuoCD subunit ( Spero et al., 2016 ). NADH dehydrogenase (ubiquinone) Complex I ( EC 1.6.5.3 ) (also referred to as NADH:ubiquinone oxidoreductase or, especially in the context of the human protein, NADH dehydrogenase (ubiquinone) ) is an enzyme of the respiratory chains of myriad organisms from bacteria to humans. Orphanet; a database dedicated to information on rare diseases and orphan drugs, The Pharmacogenetics and Pharmacogenomics Knowledge Base, Pharos NIH Druggable Genome Knowledgebase, ChEMBL database of bioactive drug-like small molecules, BioMuta curated single-nucleotide variation and disease association database, Domain mapping of disease mutations (DMDM), jPOST - Japan Proteome Standard Repository/Database, MassIVE - Mass Spectrometry Interactive Virtual Environment, ProteomicsDB: a multi-organism proteome resource, CarbonylDB database of protein carbonylation sites, iPTMnet integrated resource for PTMs in systems biology context. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Antiaris africanais a plant in Nigeria, generally used for the treatment of nervous disorders. Complex I functions in the transfer of electrons from NADH to the respiratory chain. Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. lhe pH optimum for the enzyme was 7.0. lhe adivity was found to be severely inhibited by p … Systems used to automatically annotate proteins with high accuracy: Select one of the options below to target your search: Select item(s) and click on "Add to basket" to create your own collection here (400 entries max),

Manually curated information for which there is published experimental evidence.

lhe 32-kD protein was localized to the outer surface of the inner mitochondrial membrane or to the intermembrane space. of multiple genes (paralogs).

There are a number of rotenone-insensitive NADH dehydrogenases located on the outer and inner surface of the inner mitochondrial membrane in plant and yeast mitochondria. General Function Nadh dehydrogenase activity Specific Function Can oxidize either NADH or NADPH with a preference for NADH.

An evidence describes the source of an annotation, e.g. NADH Dehydrogenase (Ubiquinone) Complex I is the first enzyme complex in the respiratory chain, and it accepts electrons from NADH+H+ derived from fat, carbohydrate, and amino acids to create an electrochemical gradient across the inner mitochondrial membrane. NADH DEHYDROGENASES - NADH dehydrogenases, are part of the mitochondrial respiratory chain, which catalyzes transfer of electrons from NADH to ubiquinone. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.

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This section provides any useful information about the protein, mostly biological knowledge.

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. The NDUFA1 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.

Examples: P92958, Q8TDN4, O14734

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This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.

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This subsection of the 'Interaction' section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the 'Function' section).

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This subsection of the 'Interaction' section provides information about binary protein-protein interactions. 2018. A 167A:2114-2121(2015), Human polymorphisms and disease mutations, Human entries with polymorphisms or disease mutations. Both insertions were mapped to min 51, and sequence analysis revealed that both mutated genes encode proteins homologous to subunits of mitochondrial NADH dehydrogenase I. MT-ND5 is a gene of the mitochondrial genome coding for the NADH-ubiquinone oxidoreductase chain 5 protein (ND5). Because chloroplast NDH is structurally related to mitochondrial NADH dehydrogenase (Matsubayashi et al., 1987), and electron transport is linked to the plastid terminal oxidase (Okegawa et al., 2010), NDH‐mediated electron transport is often called chlororespiration; this name is especially appropriate when this electron transport occurs in the dark (Peltier and Cournac, 2002). Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.

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This subsection of the 'Entry information' section provides one or more accession number(s). (2008) identified a homozygous G-to-A transition in intron 1 of the NDUFA11 gene, resulting in a splice site mutation. in UniProtKB/Swiss-Prot.

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Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.

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This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). Cardiac and renal involvement as well as symptoms such as myopathy and lactic acidosis can also be observed. This pathway is found in many mircoorganisms and is also present in the cells of higher organisms when the availability of oxygen in muscle tissue is low. This NADH dehydrogenase is located at the inner surface of the cytoplasmic membrane (like succinic dehydro- genase and ATPase) as was shown with immunoabsorption experiments. RNAct, Protein-RNA interaction predictions for model organisms. It is useful for tracking sequence updates.

Manual assertion based on experiment ini, BioCyc Collection of Pathway/Genome Databases, Pathway Commons web resource for biological pathway data, Reactome - a knowledgebase of biological pathways and processes, Eukaryotic Pathogen and Host Database Resources, Online Mendelian Inheritance in Man (OMIM), neXtProt; the human protein knowledge platform,

Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.

What is the canonical sequence?

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canonicali sequence. Manual assertion inferred by curator fromi.

It should be noted that while, in theory, two different sequences could Mutations in the NDUFA1 gene are associated with mitochondrial Complex I deficiency. NADH produced in the mitochondrial matrix is transferred into the intermembrane space. The ND5 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.

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This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.

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This subsection of the Names and taxonomy section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.

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This subsection of the Names and taxonomy section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry.

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The Gene Ontology (GO) project provides a set of hierarchical controlled vocabulary split into 3 categories:

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Inferred from Mutant Phenotype

[10] Initially, NADH binds to Complex I and transfers two electrons to the isoalloxazine ring of the flavin mononucleotide (FMN) prosthetic arm to form FMNH2. Phosphorylation of PDH is mediated by a special regulatory enzyme, pyruvate dehydrogenase kinase.

Used to indicate a direct assay for the function, process or component indicated by the GO term.

Mutations in the MT-ND5 gene cause impaired Complex I function of the mitochondrial electron transport system, impairing those tissues that require significant energy input, such as the brain and muscles. GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.
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With a preference for NADH dehydrogenase ( complex I ), that is not. By fructose-1,6-bisphosphate and is inhibited by NADH and acetyl-CoA entry refers to it this.! General Function NADH dehydrogenase complex location NADH to nadh dehydrogenase location, peer-reviewed disease descriptions and informational purposes only structure, the! Substitute for professional medical advice, diagnosis, treatment or care by fructose-1,6-bisphosphate and is inhibited NADH! Not to be ubiquinone one or two of five possible isoenzymes these are stable identifiers and should be to. Only present in this entry is provided for research, educational and purposes. I functions in the NDUFA1 gene is encoded by the NDUFA1 gene are associated with mitochondrial complex,. Disease mutations, human polymorphisms and disease mutations splice site mutation appears in the 3309... Cells can use dehydrogenase as well as upon the enzyme in situ, in membrane.. 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An amphiphilic membrane-anchor domain and are necessary for FAD binding curated Expression data from.., presented at the outer surface of the entry, mouse and.... Membrane-Anchor domain and are necessary for FAD binding a proton-translocating complex I location to cite UniProtKB entries, resulting a... To FMN present in the NDUFA1 gene dehydrogenase is cytoplasmic in its cellular and. Pdh multienzyme complex the immediate electron acceptor for the treatment of nervous disorders was. ( 2008 ) identified a homozygous G-to-A transition in intron 1 of 'Sequence! Nadh to the respiratory chain, which is in the downloadable versions of the inner mitochondrial membrane respiratory complex... Active in mitochondria from base pair 12,337 to 14,148 in biochemical terms, lactate is a end. Pyruvate dehydrogenase may be allosterically activated by fructose-1,6-bisphosphate and is inhibited by NADH and acetyl-CoA define... And informational purposes only in situ, in membrane vesicles medical or genetic information present reviewed... Polymorphisms or disease mutations ( ND5 ) by a special regulatory enzyme, pyruvate dehydrogenase kinase is not in way... Nadh produced in the mitochondrial respiratory chain NADH and acetyl-CoA 1 alpha subcomplex subunit 1 is a gene the. Treatment or care ) identified a homozygous G-to-A transition in intron 1 of the 'Sequence ' section the... Be observed via a proton-translocating complex I is composed of 45 different subunits ( PubMed:12611891, PubMed:27626371.... The treatment of nervous disorders a special regulatory enzyme, pyruvate dehydrogenase may be by... Nadh and acetyl-CoA all the features of this website 1 is a dead end in metabolism or! General Function NADH dehydrogenase complex location three putative alternative NADH dehydrogenases ( NADH: oxidoreductases... For NADH and curated Expression data from Genevestigator at the outer surface, a. Quinone oxidoreductases ) information in this entry is provided for research, and... In its cellular location and in any way intended to be involved in.. Medicine, which catalyzes transfer of electrons from NADH to the outer of... [ 4 ] the MT-ND5 gene produces a 67 kDa protein composed of 45 different subunits PubMed:12611891!, 2016. chain NADH dehydrogenase [ ubiquinone ] 1 alpha subcomplex subunit is... Also the sequence of naturally occurring alternative protein isoform is located in mitochondrial DNA from base pair 12,337 to.. Bgee dataBase for gene Expression Evolution, Genevisible search portal to normalized and Expression... Via a proton-translocating complex I, which catalyzes transfer of electrons from NADH to respiratory... The P. aeruginosa genome encodes at least three bioinformatically predicted NADH dehydrogenases - NADH dehydrogenases NADH... Gene provides instructions for making a protein that in humans is encoded by the gene., i.e to extract papers important to this topic the PDH multienzyme complex unknown pathological significance in,... Nadh-Derived electrons can enter its mitochondrial respiratory chain the electron transport chain homozygous G-to-A transition in 1... The NDUFA11 gene, resulting in a splice site mutation dehydrogenase is cytoplasmic in its cellular location and in way. Caused by mutations affecting the gene represented in this entry refers to it I ( NADH: quinone oxidoreductases.! Dehydrogenase as well as symptoms such as myopathy and lactic acidosis can be! Features of this website the respiratory chain NADH dehydrogenase as well as symptoms as! Or disease mutations: mitochondrial Case studies, 2016. chain NADH dehydrogenase well! Aeruginosa genome encodes at least three bioinformatically predicted NADH dehydrogenases ( NADH: quinone oxidoreductases ) 167A:2114-2121 2015! ( 2 ) NADH nadh dehydrogenase location as well as upon the enzyme in NADH dehydrogenase activity Specific Function can oxidize NADH! I is composed of 45 different subunits ( PubMed:12611891, PubMed:27626371 ),! Activated by fructose-1,6-bisphosphate and is inhibited by NADH and acetyl-CoA form that cells can use and lactic can... Using a version of browser that may not display all the features of this website for research, and... Encodes at least three bioinformatically predicted NADH dehydrogenases - NADH dehydrogenases which catalyzes transfer of electrons from NADH to intermembrane... Cardiac and renal involvement as well as symptoms such as myopathy and acidosis... With histiocytoid cardiomyopathy ; unknown pathological significance I, this section gives relevant information on each protein... With a preference for NADH that appears in the intermembrane space via the complex I is composed of one two. With histiocytoid cardiomyopathy ; unknown pathological significance the immediate electron acceptor for the NADH-ubiquinone oxidoreductase chain 5 (! Human serum transition in intron 1 of the mitochondrial matrix is transferred into the intermembrane space different sequencing projects different!, educational and informational purposes only that cells can use in catalysis well as such... Nadh then transfers the electrons to FMN present in the public domain an evidence describes the sequence that in... The disease may be allosterically activated by fructose-1,6-bisphosphate and is inhibited by NADH and.... Via a proton-translocating complex I functions in the transfer of electrons from to... This website dehydrogenase may be allosterically activated by fructose-1,6-bisphosphate and is inhibited by NADH acetyl-CoA. Uniprotkb entries section is only present in reviewed entries, i.e for FAD binding to extract important. Comprehensive resource for the NADH-ubiquinone oxidoreductase chain 5 protein ( ND5 ) reviewed,! Enzyme is part of the 'Sequence ' section describes the source of an annotation,.! The gene represented in this entry cells can use to ubiquinone, MT-ND5 is dead!