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Entry version 209 (02 Jun 2021)
Sequence version 2 (16 Apr 2002)
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Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial

Gene

NDUFS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:30922174, PubMed:22036843).

Essential for the catalytic activity of complex I (PubMed:30922174, PubMed:22036843).

Essential for the assembly of complex I (By similarity).

Redox-sensitive, critical component of the oxygen-sensing pathway in the pulmonary vasculature which plays a key role in acute pulmonary oxygen-sensing and hypoxic pulmonary vasoconstriction (PubMed:30922174).

Plays an important role in carotid body sensing of hypoxia (By similarity).

Essential for glia-like neural stem and progenitor cell proliferation, differentiation and subsequent oligodendrocyte or neuronal maturation (By similarity).

By similarity2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

[4Fe-4S] clusterNote: Binds 1 [4Fe-4S] cluster.

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=10.2 µM for decylubiquinone1 Publication
  2. KM=55 µM for ubiquinone-11 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi326Iron-sulfur (4Fe-4S)Sequence analysis1
    Metal bindingi332Iron-sulfur (4Fe-4S)Sequence analysis1
    Metal bindingi347Iron-sulfur (4Fe-4S)Sequence analysis1

    <p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

    GO - Biological processi

    <p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

    Molecular functionOxidoreductase, Translocase
    Biological processElectron transport, Respiratory chain, Transport
    Ligand4Fe-4S, Iron, Iron-sulfur, Metal-binding, NAD, Ubiquinone

    Enzyme and pathway databases

    BioCyc Collection of Pathway/Genome Databases

    More...
    BioCyci
    MetaCyc:HS08339-MONOMER

    Pathway Commons web resource for biological pathway data

    More...
    PathwayCommonsi
    O75306

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-611105, Respiratory electron transport
    R-HSA-6799198, Complex I biogenesis

    SIGNOR Signaling Network Open Resource

    More...
    SIGNORi
    O75306

    <p>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.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (EC:7.1.1.22 Publications)
    Alternative name(s):
    Complex I-49kD
    Short name:
    CI-49kD
    NADH-ubiquinone oxidoreductase 49 kDa subunit
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
    Name:NDUFS2
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
    • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

    Organism-specific databases

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:7708, NDUFS2

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    602985, gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_O75306

    Eukaryotic Pathogen, Vector and Host Database Resources

    More...
    VEuPathDBi
    HostDB:ENSG00000158864.12

    <p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    <p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

    <p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

    Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6)2 Publications
    The disease is caused by variants affecting the gene represented in this entry.
    Disease descriptionA form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN6 transmission pattern is consistent with autosomal recessive inheritance.
    Related information in OMIM
    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_019535228R → Q in MC1DN6. 1 PublicationCorresponds to variant dbSNP:rs121434427EnsemblClinVar.1
    Natural variantiVAR_019536229P → Q in MC1DN6. 1 PublicationCorresponds to variant dbSNP:rs121434428EnsemblClinVar.1
    Natural variantiVAR_019537413S → P in MC1DN6. 1 PublicationCorresponds to variant dbSNP:rs121434429EnsemblClinVar.1
    Natural variantiVAR_084193446D → N in MC1DN6; loss of catalytic activity; no change in Km value for ubiquinone-1. 1 Publication1

    Keywords - Diseasei

    Disease variant, Primary mitochondrial disease

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    4720

    MalaCards human disease database

    More...
    MalaCardsi
    NDUFS2
    MIMi618228, phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000158864

    Orphanet; a database dedicated to information on rare diseases and orphan drugs

    More...
    Orphaneti
    2609, Isolated complex I deficiency
    104, Leber hereditary optic neuropathy
    70474, Leigh syndrome with cardiomyopathy
    255241, Leigh syndrome with leukodystrophy

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA31519

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...
    Pharosi
    O75306, Tclin

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...
    ChEMBLi
    CHEMBL3039

    Drug and drug target database

    More...
    DrugBanki
    DB00997, Doxorubicin
    DB00157, NADH

    DrugCentral

    More...
    DrugCentrali
    O75306

    Genetic variation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    NDUFS2

    <p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

    Molecule processing

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 33MitochondrionBy similarityAdd BLAST33
    <p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001998134 – 463NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrialAdd BLAST430

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei62N6-acetyllysineBy similarity1
    Modified residuei118Symmetric dimethylarginine2 Publications1

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

    Dimethylation at Arg-118 by NDUFAF7 takes place after NDUFS2 assembles into the complex I, leading to stabilize the early intermediate complex (PubMed:24089531, PubMed:24838397).2 Publications

    Keywords - PTMi

    Acetylation, Methylation

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    O75306

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    O75306

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...
    MassIVEi
    O75306

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    O75306

    PaxDb, a database of protein abundance averages across all three domains of life

    More...
    PaxDbi
    O75306

    PeptideAtlas

    More...
    PeptideAtlasi
    O75306

    PRoteomics IDEntifications database

    More...
    PRIDEi
    O75306

    ProteomicsDB: a multi-organism proteome resource

    More...
    ProteomicsDBi
    49883 [O75306-1]

    Consortium for Top Down Proteomics

    More...
    TopDownProteomicsi
    O75306-1 [O75306-1]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    O75306

    Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

    More...
    PhosphoSitePlusi
    O75306

    SwissPalm database of S-palmitoylation events

    More...
    SwissPalmi
    O75306

    <p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000158864, Expressed in right ovary and 241 other tissues

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    O75306, HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    ENSG00000158864, Tissue enhanced (skeletal)

    <p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> 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 <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits.

    Component of the iron-sulfur (IP) fragment of the enzyme (PubMed:12611891).

    Interacts with NDUFAF3 (PubMed:19463981).

    Interacts with NDUFAF7 (PubMed:20406883, PubMed:24089531).

    Interacts with CERS2 (By similarity).

    By similarity4 Publications

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    GO - Molecular functioni

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...
    BioGRIDi
    110800, 223 interactors

    ComplexPortal: manually curated resource of macromolecular complexes

    More...
    ComplexPortali
    CPX-577, Mitochondrial respiratory chain complex I

    CORUM comprehensive resource of mammalian protein complexes

    More...
    CORUMi
    O75306

    Protein interaction database and analysis system

    More...
    IntActi
    O75306, 78 interactors

    Molecular INTeraction database

    More...
    MINTi
    O75306

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000356972

    Chemistry databases

    BindingDB database of measured binding affinities

    More...
    BindingDBi
    O75306

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...
    RNActi
    O75306, protein

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1463
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...
    SMRi
    O75306

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    Protein Data Bank in Europe - Knowledge Base

    More...
    PDBe-KBi
    Search...

    <p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

    <p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

    Belongs to the complex I 49 kDa subunit family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG2870, Eukaryota

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00390000009529

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...
    HOGENOMi
    CLU_015134_1_1_1

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    O75306

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    IMGTSME

    Database of Orthologous Groups

    More...
    OrthoDBi
    444312at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    O75306

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF300370

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...
    Gene3Di
    1.10.645.20, 1 hit

    HAMAP database of protein families

    More...
    HAMAPi
    MF_01358, NDH1_NuoD, 1 hit

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR001135, NADH_Q_OxRdtase_suD
    IPR038290, NADH_Q_OxRdtase_suD_sf
    IPR014029, NADH_UbQ_OxRdtase_49kDa_CS
    IPR022885, NDH1_su_D/H
    IPR029014, NiFe-Hase_large

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF00346, Complex1_49kDa, 1 hit

    Superfamily database of structural and functional annotation

    More...
    SUPFAMi
    SSF56762, SSF56762, 1 hit

    TIGRFAMs; a protein family database

    More...
    TIGRFAMsi
    TIGR01962, NuoD, 1 hit

    PROSITE; a protein domain and family database

    More...
    PROSITEi
    View protein in PROSITE
    PS00535, COMPLEX1_49K, 1 hit

    <p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

    <p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 17 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: O75306-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MAALRALCGF RGVAAQVLRP GAGVRLPIQP SRGVRQWQPD VEWAQQFGGA
    60 70 80 90 100
    VMYPSKETAH WKPPPWNDVD PPKDTIVKNI TLNFGPQHPA AHGVLRLVME
    110 120 130 140 150
    LSGEMVRKCD PHIGLLHRGT EKLIEYKTYL QALPYFDRLD YVSMMCNEQA
    160 170 180 190 200
    YSLAVEKLLN IRPPPRAQWI RVLFGEITRL LNHIMAVTTH ALDLGAMTPF
    210 220 230 240 250
    FWLFEEREKM FEFYERVSGA RMHAAYIRPG GVHQDLPLGL MDDIYQFSKN
    260 270 280 290 300
    FSLRLDELEE LLTNNRIWRN RTIDIGVVTA EEALNYGFSG VMLRGSGIQW
    310 320 330 340 350
    DLRKTQPYDV YDQVEFDVPV GSRGDCYDRY LCRVEEMRQS LRIIAQCLNK
    360 370 380 390 400
    MPPGEIKVDD AKVSPPKRAE MKTSMESLIH HFKLYTEGYQ VPPGATYTAI
    410 420 430 440 450
    EAPKGEFGVY LVSDGSSRPY RCKIKAPGFA HLAGLDKMSK GHMLADVVAI
    460
    IGTQDIVFGE VDR
    Length:463
    Mass (Da):52,546
    Last modified:April 16, 2002 - v2
    <p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA2BF56F008B6312C
    GO
    Isoform 2 (identifier: O75306-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         454-463: QDIVFGEVDR → RPIV

    Show »
    Length:457
    Mass (Da):51,852
    Checksum:i312C97A91028FF66
    GO

    <p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

    There are 17 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    A0A7I2V596A0A7I2V596_HUMAN
    Complex I-49kD
    NDUFS2
    478Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A7I2YQG7A0A7I2YQG7_HUMAN
    Complex I-49kD
    NDUFS2
    484Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A7I2V4G5A0A7I2V4G5_HUMAN
    Complex I-49kD
    NDUFS2
    437Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A7I2V4X8A0A7I2V4X8_HUMAN
    Complex I-49kD
    NDUFS2
    438Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A7I2YQD8A0A7I2YQD8_HUMAN
    Complex I-49kD
    NDUFS2
    431Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A7I2V2B9A0A7I2V2B9_HUMAN
    Complex I-49kD
    NDUFS2
    407Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A7I2V3J6A0A7I2V3J6_HUMAN
    Complex I-49kD
    NDUFS2
    423Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A7I2V410A0A7I2V410_HUMAN
    Complex I-49kD
    NDUFS2
    386Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A7I2V4W5A0A7I2V4W5_HUMAN
    Complex I-49kD
    NDUFS2
    407Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    A0A7I2V517A0A7I2V517_HUMAN
    Complex I-49kD
    NDUFS2
    253Annotation score:

    Annotation score:2 out of 5

    <p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
    There are more potential isoformsShow all

    Experimental Info

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>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. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti24V → G in AAC34362 (PubMed:9585441).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_03415020P → T. Corresponds to variant dbSNP:rs11538340EnsemblClinVar.1
    Natural variantiVAR_071891224A → V1 Publication1
    Natural variantiVAR_019535228R → Q in MC1DN6. 1 PublicationCorresponds to variant dbSNP:rs121434427EnsemblClinVar.1
    Natural variantiVAR_034151229P → A. Corresponds to variant dbSNP:rs16827493Ensembl.1
    Natural variantiVAR_019536229P → Q in MC1DN6. 1 PublicationCorresponds to variant dbSNP:rs121434428EnsemblClinVar.1
    Natural variantiVAR_034152352P → A. Corresponds to variant dbSNP:rs11576415EnsemblClinVar.1
    Natural variantiVAR_019537413S → P in MC1DN6. 1 PublicationCorresponds to variant dbSNP:rs121434429EnsemblClinVar.1
    Natural variantiVAR_084193446D → N in MC1DN6; loss of catalytic activity; no change in Km value for ubiquinone-1. 1 Publication1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_046466454 – 463QDIVFGEVDR → RPIV in isoform 2. Curated10

    Sequence databases

    Select the link destinations:

    EMBL nucleotide sequence database

    More...
    EMBLi

    GenBank nucleotide sequence database

    More...
    GenBanki

    DNA Data Bank of Japan; a nucleotide sequence database

    More...
    DDBJi
    Links Updated
    AF050640 mRNA Translation: AAC27453.1
    AF013160 mRNA Translation: AAC34362.1
    AK314807 mRNA No translation available.
    AL590714 Genomic DNA No translation available.
    CH471121 Genomic DNA Translation: EAW52625.1
    CH471121 Genomic DNA Translation: EAW52626.1
    BC000170 mRNA Translation: AAH00170.1
    BC001456 mRNA Translation: AAH01456.1
    BC008868 mRNA Translation: AAH08868.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS1224.1 [O75306-1]
    CCDS53404.1 [O75306-2]

    Protein sequence database of the Protein Information Resource

    More...
    PIRi
    JE0193

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001159631.1, NM_001166159.1 [O75306-2]
    NP_004541.1, NM_004550.4 [O75306-1]
    XP_005245265.1, XM_005245208.2
    XP_016856846.1, XM_017001357.1

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000367993; ENSP00000356972; ENSG00000158864 [O75306-1]
    ENST00000392179; ENSP00000376018; ENSG00000158864 [O75306-2]
    ENST00000676600; ENSP00000503989; ENSG00000158864 [O75306-1]
    ENST00000676972; ENSP00000503117; ENSG00000158864 [O75306-1]
    ENST00000677457; ENSP00000503294; ENSG00000158864 [O75306-2]
    ENST00000677550; ENSP00000503353; ENSG00000158864 [O75306-2]
    ENST00000678507; ENSP00000504199; ENSG00000158864 [O75306-1]
    ENST00000678511; ENSP00000504846; ENSG00000158864 [O75306-1]
    ENST00000678605; ENSP00000503969; ENSG00000158864 [O75306-2]
    ENST00000679176; ENSP00000504170; ENSG00000158864 [O75306-2]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    4720

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:4720

    UCSC genome browser

    More...
    UCSCi
    uc001fyv.4, human [O75306-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    <p>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 (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

    <p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBLi
    GenBanki
    DDBJi
    Links Updated
    AF050640 mRNA Translation: AAC27453.1
    AF013160 mRNA Translation: AAC34362.1
    AK314807 mRNA No translation available.
    AL590714 Genomic DNA No translation available.
    CH471121 Genomic DNA Translation: EAW52625.1
    CH471121 Genomic DNA Translation: EAW52626.1
    BC000170 mRNA Translation: AAH00170.1
    BC001456 mRNA Translation: AAH01456.1
    BC008868 mRNA Translation: AAH08868.1
    CCDSiCCDS1224.1 [O75306-1]
    CCDS53404.1 [O75306-2]
    PIRiJE0193
    RefSeqiNP_001159631.1, NM_001166159.1 [O75306-2]
    NP_004541.1, NM_004550.4 [O75306-1]
    XP_005245265.1, XM_005245208.2
    XP_016856846.1, XM_017001357.1

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...
    PDBei

    Protein Data Bank RCSB

    More...
    RCSB PDBi

    Protein Data Bank Japan

    More...
    PDBji
    Links Updated
    PDB entryMethodResolution (Å)ChainPositionsPDBsum
    5XTBelectron microscopy3.40Q79-463[»]
    5XTCelectron microscopy3.70Q34-79[»]
    5XTDelectron microscopy3.70Q34-463[»]
    5XTHelectron microscopy3.90Q34-463[»]
    5XTIelectron microscopy17.40BQ/Q34-463[»]
    SMRiO75306
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi110800, 223 interactors
    ComplexPortaliCPX-577, Mitochondrial respiratory chain complex I
    CORUMiO75306
    IntActiO75306, 78 interactors
    MINTiO75306
    STRINGi9606.ENSP00000356972

    Chemistry databases

    BindingDBiO75306
    ChEMBLiCHEMBL3039
    DrugBankiDB00997, Doxorubicin
    DB00157, NADH
    DrugCentraliO75306

    PTM databases

    iPTMnetiO75306
    PhosphoSitePlusiO75306
    SwissPalmiO75306

    Genetic variation databases

    BioMutaiNDUFS2

    Proteomic databases

    EPDiO75306
    jPOSTiO75306
    MassIVEiO75306
    MaxQBiO75306
    PaxDbiO75306
    PeptideAtlasiO75306
    PRIDEiO75306
    ProteomicsDBi49883 [O75306-1]
    TopDownProteomicsiO75306-1 [O75306-1]

    Protocols and materials databases

    Antibodypedia a portal for validated antibodies

    More...
    Antibodypediai
    34301, 298 antibodies

    The DNASU plasmid repository

    More...
    DNASUi
    4720

    Genome annotation databases

    EnsembliENST00000367993; ENSP00000356972; ENSG00000158864 [O75306-1]
    ENST00000392179; ENSP00000376018; ENSG00000158864 [O75306-2]
    ENST00000676600; ENSP00000503989; ENSG00000158864 [O75306-1]
    ENST00000676972; ENSP00000503117; ENSG00000158864 [O75306-1]
    ENST00000677457; ENSP00000503294; ENSG00000158864 [O75306-2]
    ENST00000677550; ENSP00000503353; ENSG00000158864 [O75306-2]
    ENST00000678507; ENSP00000504199; ENSG00000158864 [O75306-1]
    ENST00000678511; ENSP00000504846; ENSG00000158864 [O75306-1]
    ENST00000678605; ENSP00000503969; ENSG00000158864 [O75306-2]
    ENST00000679176; ENSP00000504170; ENSG00000158864 [O75306-2]
    GeneIDi4720
    KEGGihsa:4720
    UCSCiuc001fyv.4, human [O75306-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    4720
    DisGeNETi4720

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    NDUFS2
    HGNCiHGNC:7708, NDUFS2
    HPAiENSG00000158864, Tissue enhanced (skeletal)
    MalaCardsiNDUFS2
    MIMi602985, gene
    618228, phenotype
    neXtProtiNX_O75306
    OpenTargetsiENSG00000158864
    Orphaneti2609, Isolated complex I deficiency
    104, Leber hereditary optic neuropathy
    70474, Leigh syndrome with cardiomyopathy
    255241, Leigh syndrome with leukodystrophy
    PharmGKBiPA31519
    VEuPathDBiHostDB:ENSG00000158864.12

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG2870, Eukaryota
    GeneTreeiENSGT00390000009529
    HOGENOMiCLU_015134_1_1_1
    InParanoidiO75306
    OMAiIMGTSME
    OrthoDBi444312at2759
    PhylomeDBiO75306
    TreeFamiTF300370

    Enzyme and pathway databases

    BioCyciMetaCyc:HS08339-MONOMER
    PathwayCommonsiO75306
    ReactomeiR-HSA-611105, Respiratory electron transport
    R-HSA-6799198, Complex I biogenesis
    SIGNORiO75306

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...
    BioGRID-ORCSi
    4720, 321 hits in 998 CRISPR screens

    ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

    More...
    ChiTaRSi
    NDUFS2, human

    The Gene Wiki collection of pages on human genes and proteins

    More...
    GeneWikii
    NDUFS2

    Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

    More...
    GenomeRNAii
    4720
    PharosiO75306, Tclin

    Protein Ontology

    More...
    PROi
    PR:O75306
    RNActiO75306, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000158864, Expressed in right ovary and 241 other tissues
    GenevisibleiO75306, HS

    Family and domain databases

    Gene3Di1.10.645.20, 1 hit
    HAMAPiMF_01358, NDH1_NuoD, 1 hit
    InterProiView protein in InterPro
    IPR001135, NADH_Q_OxRdtase_suD
    IPR038290, NADH_Q_OxRdtase_suD_sf
    IPR014029, NADH_UbQ_OxRdtase_49kDa_CS
    IPR022885, NDH1_su_D/H
    IPR029014, NiFe-Hase_large
    PfamiView protein in Pfam
    PF00346, Complex1_49kDa, 1 hit
    SUPFAMiSSF56762, SSF56762, 1 hit
    TIGRFAMsiTIGR01962, NuoD, 1 hit
    PROSITEiView protein in PROSITE
    PS00535, COMPLEX1_49K, 1 hit

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    Search...

    <p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

    <p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNDUS2_HUMAN
    <p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75306
    Secondary accession number(s): D3DVG7
    , J3KPM7, Q5VTW0, Q969P3, Q9UEV3
    <p>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'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: April 16, 2002
    Last modified: June 2, 2021
    This is version 209 of the entry and version 2 of the sequence. See complete history.
    <p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    <p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

    Keywords - Technical termi

    3D-structure, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with genetic variants
      List of human entries with genetic variants
    3. Human variants curated from literature reports
      Index of human variants curated from literature reports
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families
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