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Entry version 198 (16 Oct 2019)
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) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:12611891).1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">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

Reactome - a knowledgebase of biological pathways and processes

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

<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_and_taxonomy_section">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:1.6.99.3, EC:7.1.1.2)
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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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)

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MIMi
602985 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O75306

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

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)1 Publication
The disease is caused by mutations 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

Keywords - Diseasei

Disease mutation, 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

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2363065

Drug and drug target database

More...
DrugBanki
DB00997 Doxorubicin
DB00157 NADH

DrugCentral

More...
DrugCentrali
O75306

Polymorphism and mutation 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.<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_processing_section">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

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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

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PRIDEi
O75306

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
49883 [O75306-1]

Consortium for Top Down Proteomics

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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

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Bgeei
ENSG00000158864 Expressed in 228 organ(s), highest expression level in right ovary

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75306 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA055140
HPA061953

<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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Complex I 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).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
NDUFS3O7548911EBI-1224806,EBI-1224896

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110800, 85 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O75306

Protein interaction database and analysis system

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IntActi
O75306, 71 interactors

Molecular INTeraction database

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MINTi
O75306

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000356972

<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

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SMRi
O75306

Database of comparative protein structure models

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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

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eggNOGi
KOG2870 Eukaryota
COG0649 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000009529

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000228264

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75306

KEGG Orthology (KO)

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KOi
K03935

Identification of Orthologs from Complete Genome Data

More...
OMAi
IMGTSME

Database of Orthologous Groups

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OrthoDBi
444312at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O75306

TreeFam database of animal gene trees

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TreeFami
TF300370

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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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

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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

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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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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
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

Note: No experimental confirmation available.
Show »
Length:457
Mass (Da):51,852
Checksum:i312C97A91028FF66
GO

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

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

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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PIRi
JE0193

NCBI Reference Sequences

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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]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4720

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4720

UCSC genome browser

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UCSCi
uc001fyv.4 human [O75306-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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, 85 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO75306
IntActiO75306, 71 interactors
MINTiO75306
STRINGi9606.ENSP00000356972

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00997 Doxorubicin
DB00157 NADH
DrugCentraliO75306

PTM databases

iPTMnetiO75306
PhosphoSitePlusiO75306
SwissPalmiO75306

Polymorphism and mutation databases

BioMutaiNDUFS2

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
4720

Genome annotation databases

EnsembliENST00000367993; ENSP00000356972; ENSG00000158864 [O75306-1]
ENST00000392179; ENSP00000376018; ENSG00000158864 [O75306-2]
GeneIDi4720
KEGGihsa:4720
UCSCiuc001fyv.4 human [O75306-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4720
DisGeNETi4720

GeneCards: human genes, protein and diseases

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GeneCardsi
NDUFS2
HGNCiHGNC:7708 NDUFS2
HPAiHPA055140
HPA061953
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

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG2870 Eukaryota
COG0649 LUCA
GeneTreeiENSGT00390000009529
HOGENOMiHOG000228264
InParanoidiO75306
KOiK03935
OMAiIMGTSME
OrthoDBi444312at2759
PhylomeDBiO75306
TreeFamiTF300370

Enzyme and pathway databases

ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis

Miscellaneous databases

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

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ChiTaRSi
NDUFS2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NDUFS2

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

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GenomeRNAii
4720
PharosiO75306

Protein Ontology

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PROi
PR:O75306

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000158864 Expressed in 228 organ(s), highest expression level in right ovary
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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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_and_isoforms">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: October 16, 2019
This is version 198 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, Complete proteome, Reference proteome

Documents

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