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UniProtKB - O75489 (NDUS3_HUMAN)

Entry version 194 (16 Oct 2019)
Sequence version 1 (01 Nov 1998)
Previous versions | rss
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Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial

Gene

NDUFS3

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 (By similarity).By similarity

<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>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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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
LigandNAD, 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 3, mitochondrial (EC:1.6.99.3, EC:7.1.1.2)
Alternative name(s):
Complex I-30kD
Short name:
CI-30kD
NADH-ubiquinone oxidoreductase 30 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:NDUFS3
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7710 NDUFS3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603846 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75489

<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 8 (MC1DN8)3 Publications
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. MC1DN8 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_081411140R → W in MC1DN8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142248674Ensembl.1
Natural variantiVAR_081412145T → I in MC1DN8. 1 PublicationCorresponds to variant dbSNP:rs28939714EnsemblClinVar.1
Natural variantiVAR_081413199R → W in MC1DN8; decreased complex I activity in patient cells homozygous for the variant. 3 PublicationsCorresponds to variant dbSNP:rs104894270EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		4722

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		NDUFS3

MalaCards human disease database

More...MalaCardsi		NDUFS3
MIMi618230 phenotype

NIAGADS Genomics Database

More...NIAGADSi		ENSG00000213619

Open Targets

More...OpenTargetsi		ENSG00000213619

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

More...Orphaneti		2609 Isolated complex I deficiency
255241 Leigh syndrome with leukodystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA31520

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75489

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		O75489

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NDUFS3

<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 – 36Mitochondrion1 PublicationAdd BLAST36
<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_000001999837 – 264NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrialAdd BLAST228

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-100
CPTAC-99

Encyclopedia of Proteome Dynamics

More...EPDi		O75489

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75489

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75489

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75489

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

More...PaxDbi		O75489

PeptideAtlas

More...PeptideAtlasi		O75489

PRoteomics IDEntifications database

More...PRIDEi		O75489

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4061
50046 [O75489-1]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		O75489-1 [O75489-1]

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00025796
O75489

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		O75489

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75489

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

More...PhosphoSitePlusi		O75489

SwissPalm database of S-palmitoylation events

More...SwissPalmi		O75489

<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		ENSG00000213619 Expressed in 234 organ(s), highest expression level in muscle of leg

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75489 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75489 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA004484

<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

Mammalian complex I is composed of 45 different subunits.

Interacts with NDUFAF3.

2 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110801, 186 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		O75489

Protein interaction database and analysis system

More...IntActi		O75489, 187 interactors

Molecular INTeraction database

More...MINTi		O75489

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000263774

<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

1264
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

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 30 kDa subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1713 Eukaryota
COG0852 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000017480

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000009797

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75489

KEGG Orthology (KO)

More...KOi		K03936

Identification of Orthologs from Complete Genome Data

More...OMAi		HHQAQFT

Database of Orthologous Groups

More...OrthoDBi		1276923at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75489

TreeFam database of animal gene trees

More...TreeFami		TF314794

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.460.80, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_01357 NDH1_NuoC, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR010218 NADH_DH_suC
IPR037232 NADH_quin_OxRdtase_su_C/D-like
IPR001268 NADH_UbQ_OxRdtase_30kDa_su
IPR020396 NADH_UbQ_OxRdtase_CS

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00329 Complex1_30kDa, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF143243 SSF143243, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR01961 NuoC_fam, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00542 COMPLEX1_30K, 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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75489-1) [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
MAAAAVARLW WRGILGASAL TRGTGRPSVL LLPVRRESAG ADTRPTVRPR 
        60         70         80         90        100
NDVAHKQLSA FGEYVAEILP KYVQQVQVSC FNELEVCIHP DGVIPVLTFL 
       110        120        130        140        150
RDHTNAQFKS LVDLTAVDVP TRQNRFEIVY NLLSLRFNSR IRVKTYTDEL 
       160        170        180        190        200
TPIESAVSVF KAANWYEREI WDMFGVFFAN HPDLRRILTD YGFEGHPFRK 
       210        220        230        240        250
DFPLSGYVEL RYDDEVKRVV AEPVELAQEF RKFDLNSPWE AFPVYRQPPE 
       260 
SLKLEAGDKK PDAK
Length:264
Mass (Da):30,242
Last modified:November 1, 1998 - v1
<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:iC058D62779BEF17B
GO
Isoform 2 (identifier: O75489-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     128-132: IVYNL → VSWEI
     133-264: Missing.

Note: No experimental confirmation available.
Show »
Length:132
Mass (Da):14,679
Checksum:iF56D4EA3021A11EF
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PS48E9PS48_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS3
161Annotation score:

Annotation score:1 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>
G3V194G3V194_HUMAN
NADH dehydrogenase (Ubiquinone) Fe-...
NDUFS3 hCG_25184
121Annotation score:

Annotation score:1 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>
E9PJE7E9PJE7_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS3
67Annotation score:

Annotation score:1 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>
E9PKL8E9PKL8_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS3
77Annotation score:

Annotation score:1 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 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 conflicti1 – 7MAAAAVA → MAAGRY (PubMed:10931946).Curated7

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081411140R → W in MC1DN8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142248674Ensembl.1
Natural variantiVAR_081412145T → I in MC1DN8. 1 PublicationCorresponds to variant dbSNP:rs28939714EnsemblClinVar.1
Natural variantiVAR_081413199R → W in MC1DN8; decreased complex I activity in patient cells homozygous for the variant. 3 PublicationsCorresponds to variant dbSNP:rs104894270EnsemblClinVar.1
Natural variantiVAR_012036249P → Q. Corresponds to variant dbSNP:rs9600Ensembl.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_057065128 – 132IVYNL → VSWEI in isoform 2. 1 Publication5
Alternative sequenceiVSP_057066133 – 264Missing in isoform 2. 1 PublicationAdd BLAST132

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
AF067139 mRNA Translation: AAC27451.1
AF200954 Genomic DNA Translation: AAG17541.1
AF100743 mRNA Translation: AAD40386.1
AK294167 mRNA Translation: BAG57489.1
AK313802 mRNA Translation: BAG36538.1
AC090559 Genomic DNA No translation available.
AC104942 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW67895.1
BC000617 mRNA Translation: AAH00617.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7941.1 [O75489-1]

Protein sequence database of the Protein Information Resource

More...PIRi		JE0195

NCBI Reference Sequences

More...RefSeqi		NP_004542.1, NM_004551.2 [O75489-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000263774; ENSP00000263774; ENSG00000213619 [O75489-1]
ENST00000534716; ENSP00000434970; ENSG00000213619 [O75489-2]
ENST00000645714; ENSP00000496383; ENSG00000285387 [O75489-1]
ENST00000646736; ENSP00000494074; ENSG00000285387 [O75489-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4722

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4722

UCSC genome browser

More...UCSCi		uc001nga.3 human [O75489-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AF067139 mRNA Translation: AAC27451.1
AF200954 Genomic DNA Translation: AAG17541.1
AF100743 mRNA Translation: AAD40386.1
AK294167 mRNA Translation: BAG57489.1
AK313802 mRNA Translation: BAG36538.1
AC090559 Genomic DNA No translation available.
AC104942 Genomic DNA No translation available.
CH471064 Genomic DNA Translation: EAW67895.1
BC000617 mRNA Translation: AAH00617.1
CCDSiCCDS7941.1 [O75489-1]
PIRiJE0195
RefSeqiNP_004542.1, NM_004551.2 [O75489-1]

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 microscopy3.40P43-250[»]
5XTDelectron microscopy3.70P43-250[»]
5XTHelectron microscopy3.90P43-250[»]
5XTIelectron microscopy17.40BP/P43-250[»]
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi110801, 186 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO75489
IntActiO75489, 187 interactors
MINTiO75489
STRINGi9606.ENSP00000263774

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00997 Doxorubicin
DB00157 NADH
DrugCentraliO75489

PTM databases

CarbonylDBiO75489
iPTMnetiO75489
PhosphoSitePlusiO75489
SwissPalmiO75489

Polymorphism and mutation databases

BioMutaiNDUFS3

2D gel databases

REPRODUCTION-2DPAGEiIPI00025796
O75489

Proteomic databases

CPTACiCPTAC-100
CPTAC-99
EPDiO75489
jPOSTiO75489
MassIVEiO75489
MaxQBiO75489
PaxDbiO75489
PeptideAtlasiO75489
PRIDEiO75489
ProteomicsDBi4061
50046 [O75489-1]
TopDownProteomicsiO75489-1 [O75489-1]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		4722

Genome annotation databases

EnsembliENST00000263774; ENSP00000263774; ENSG00000213619 [O75489-1]
ENST00000534716; ENSP00000434970; ENSG00000213619 [O75489-2]
ENST00000645714; ENSP00000496383; ENSG00000285387 [O75489-1]
ENST00000646736; ENSP00000494074; ENSG00000285387 [O75489-2]
GeneIDi4722
KEGGihsa:4722
UCSCiuc001nga.3 human [O75489-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4722
DisGeNETi4722

GeneCards: human genes, protein and diseases

More...GeneCardsi		NDUFS3
GeneReviewsiNDUFS3
HGNCiHGNC:7710 NDUFS3
HPAiHPA004484
MalaCardsiNDUFS3
MIMi603846 gene
618230 phenotype
neXtProtiNX_O75489
NIAGADSiENSG00000213619
OpenTargetsiENSG00000213619
Orphaneti2609 Isolated complex I deficiency
255241 Leigh syndrome with leukodystrophy
PharmGKBiPA31520

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1713 Eukaryota
COG0852 LUCA
GeneTreeiENSGT00390000017480
HOGENOMiHOG000009797
InParanoidiO75489
KOiK03936
OMAiHHQAQFT
OrthoDBi1276923at2759
PhylomeDBiO75489
TreeFamiTF314794

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

More...ChiTaRSi		NDUFS3 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NDUFS3

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

More...GenomeRNAii		4722
PharosiO75489

Protein Ontology

More...PROi		PR:O75489

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000213619 Expressed in 234 organ(s), highest expression level in muscle of leg
ExpressionAtlasiO75489 baseline and differential
GenevisibleiO75489 HS

Family and domain databases

Gene3Di3.30.460.80, 1 hit
HAMAPiMF_01357 NDH1_NuoC, 1 hit
InterProiView protein in InterPro
IPR010218 NADH_DH_suC
IPR037232 NADH_quin_OxRdtase_su_C/D-like
IPR001268 NADH_UbQ_OxRdtase_30kDa_su
IPR020396 NADH_UbQ_OxRdtase_CS
PfamiView protein in Pfam
PF00329 Complex1_30kDa, 1 hit
SUPFAMiSSF143243 SSF143243, 1 hit
TIGRFAMsiTIGR01961 NuoC_fam, 1 hit
PROSITEiView protein in PROSITE
PS00542 COMPLEX1_30K, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiNDUS3_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: O75489
Secondary accession number(s): B2R9J1, B4DFM8, Q9UNQ8
<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: December 15, 1998
Last sequence update: November 1, 1998
Last modified: October 16, 2019
This is version 194 of the entry and version 1 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, Direct protein sequencing, 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 11
    Human chromosome 11: 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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