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Entry version 187 (18 Sep 2019)
Sequence version 1 (01 Jul 1997)
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Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial

Gene

NDUFS8

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). May donate electrons to ubiquinone.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>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] clusterBy similarityNote: Binds 2 [4Fe-4S] clusters per subunit.By similarity

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 bindingi111Iron-sulfur 1 (4Fe-4S)By similarity1
Metal bindingi114Iron-sulfur 1 (4Fe-4S)By similarity1
Metal bindingi117Iron-sulfur 1 (4Fe-4S)By similarity1
Metal bindingi121Iron-sulfur 2 (4Fe-4S)By similarity1
Metal bindingi150Iron-sulfur 2 (4Fe-4S)By similarity1
Metal bindingi153Iron-sulfur 2 (4Fe-4S)By similarity1
Metal bindingi156Iron-sulfur 2 (4Fe-4S)By similarity1
Metal bindingi160Iron-sulfur 1 (4Fe-4S)By similarity1

<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 8, mitochondrial (EC:1.6.99.3, EC:7.1.1.2)
Alternative name(s):
Complex I-23kD
Short name:
CI-23kD
NADH-ubiquinone oxidoreductase 23 kDa subunit
TYKY 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:NDUFS8
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7715 NDUFS8

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602141 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O00217

<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

Mitochondrion

<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 2 (MC1DN2)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. MC1DN2 inheritance is autosomal recessive.
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_08144063E → Q in MC1DN2. 1 PublicationCorresponds to variant dbSNP:rs397514618EnsemblClinVar.1
Natural variantiVAR_08144177R → W in MC1DN2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146766138EnsemblClinVar.1
Natural variantiVAR_01953879P → L in MC1DN2. 1 PublicationCorresponds to variant dbSNP:rs28939679EnsemblClinVar.1
Natural variantiVAR_08144285P → L in MC1DN2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121912639EnsemblClinVar.1
Natural variantiVAR_019539102R → H in MC1DN2. 1 PublicationCorresponds to variant dbSNP:rs121912638EnsemblClinVar.1
Natural variantiVAR_081443138R → H in MC1DN2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033588EnsemblClinVar.1
Natural variantiVAR_081444159A → D in MC1DN2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397514617EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...
DisGeNETi
4728

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

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GeneReviewsi
NDUFS8

MalaCards human disease database

More...
MalaCardsi
NDUFS8
MIMi618222 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000110717

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
PA31525

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2363065

Drug and drug target database

More...
DrugBanki
DB13257 Ferrous sulfate anhydrous
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
NDUFS8

<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 – 34MitochondrionBy similarityAdd BLAST34
<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_000002001235 – 210NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrialAdd BLAST176

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O00217

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O00217

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
O00217

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O00217

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

More...
PaxDbi
O00217

PeptideAtlas

More...
PeptideAtlasi
O00217

PRoteomics IDEntifications database

More...
PRIDEi
O00217

ProteomicsDB human proteome resource

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ProteomicsDBi
47787

Consortium for Top Down Proteomics

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TopDownProteomicsi
O00217

2D gel databases

USC-OGP 2-DE database

More...
OGPi
O00217

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
O00217

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O00217

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

More...
PhosphoSitePlusi
O00217

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O00217

<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
ENSG00000110717 Expressed in 239 organ(s), highest expression level in right adrenal gland

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O00217 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O00217 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA018524

<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.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
110806, 76 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
O00217

Protein interaction database and analysis system

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IntActi
O00217, 38 interactors

Molecular INTeraction database

More...
MINTi
O00217

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000315774

<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

1210
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
O00217

Database of comparative protein structure models

More...
ModBasei
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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini102 – 1314Fe-4S ferredoxin-type 1Add BLAST30
Domaini141 – 1704Fe-4S ferredoxin-type 2Add BLAST30

<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 23 kDa subunit family.Curated

Keywords - Domaini

Repeat, Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3256 Eukaryota
COG1143 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000003049

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000228289

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O00217

KEGG Orthology (KO)

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KOi
K03941

Identification of Orthologs from Complete Genome Data

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OMAi
KYFLMTE

Database of Orthologous Groups

More...
OrthoDBi
1283957at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O00217

TreeFam database of animal gene trees

More...
TreeFami
TF105610

Family and domain databases

HAMAP database of protein families

More...
HAMAPi
MF_01351 NDH1_NuoI, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR017896 4Fe4S_Fe-S-bd
IPR017900 4Fe4S_Fe_S_CS
IPR010226 NADH_quinone_OxRdtase_chainI

The PANTHER Classification System

More...
PANTHERi
PTHR10849 PTHR10849, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF12838 Fer4_7, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR01971 NuoI, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00198 4FE4S_FER_1, 2 hits
PS51379 4FE4S_FER_2, 2 hits

<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>Sequence (1+)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 has 1 described isoform and 9 potential isoforms that are computationally mapped.Show allAlign All

O00217-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRCLTTPMLL RALAQAARAG PPGGRSLHSS AVAATYKYVN MQDPEMDMKS
60 70 80 90 100
VTDRAARTLL WTELFRGLGM TLSYLFREPA TINYPFEKGP LSPRFRGEHA
110 120 130 140 150
LRRYPSGEER CIACKLCEAI CPAQAITIEA EPRADGSRRT TRYDIDMTKC
160 170 180 190 200
IYCGFCQEAC PVDAIVEGPN FEFSTETHEE LLYNKEKLLN NGDKWEAEIA
210
ANIQADYLYR
Length:210
Mass (Da):23,705
Last modified:July 1, 1997 - 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:i8C3EBD205BFA0112
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PPW7E9PPW7_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS8
184Annotation 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>
F8W9K7F8W9K7_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS8
124Annotation 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>
E9PN51E9PN51_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS8
110Annotation 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>
H0YDT4H0YDT4_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS8
93Annotation 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>
E9PKH6E9PKH6_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS8
138Annotation 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>
Q08E91Q08E91_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS8
64Annotation 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>
E9PJY7E9PJY7_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS8
43Annotation 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>
H0YCB2H0YCB2_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS8
40Annotation 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>
E9PML5E9PML5_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS8
70Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08144063E → Q in MC1DN2. 1 PublicationCorresponds to variant dbSNP:rs397514618EnsemblClinVar.1
Natural variantiVAR_08144177R → W in MC1DN2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs146766138EnsemblClinVar.1
Natural variantiVAR_01953879P → L in MC1DN2. 1 PublicationCorresponds to variant dbSNP:rs28939679EnsemblClinVar.1
Natural variantiVAR_08144285P → L in MC1DN2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs121912639EnsemblClinVar.1
Natural variantiVAR_019539102R → H in MC1DN2. 1 PublicationCorresponds to variant dbSNP:rs121912638EnsemblClinVar.1
Natural variantiVAR_081443138R → H in MC1DN2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs111033588EnsemblClinVar.1
Natural variantiVAR_081444159A → D in MC1DN2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397514617EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
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
U65579 mRNA Translation: AAB51776.1
AF038406 Genomic DNA Translation: AAC34273.1
AK314546 mRNA Translation: BAG37133.1
BC119754 mRNA Translation: AAI19755.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8176.1

NCBI Reference Sequences

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RefSeqi
NP_002487.1, NM_002496.3
XP_005274070.1, XM_005274013.1
XP_005274071.1, XM_005274014.2
XP_011543355.1, XM_011545053.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000313468; ENSP00000315774; ENSG00000110717

Database of genes from NCBI RefSeq genomes

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GeneIDi
4728

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:4728

UCSC genome browser

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UCSCi
uc001onc.4 human

<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
U65579 mRNA Translation: AAB51776.1
AF038406 Genomic DNA Translation: AAC34273.1
AK314546 mRNA Translation: BAG37133.1
BC119754 mRNA Translation: AAI19755.1
CCDSiCCDS8176.1
RefSeqiNP_002487.1, NM_002496.3
XP_005274070.1, XM_005274013.1
XP_005274071.1, XM_005274014.2
XP_011543355.1, XM_011545053.2

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 microscopy3.40B35-210[»]
5XTDelectron microscopy3.70B35-210[»]
5XTHelectron microscopy3.90B35-210[»]
5XTIelectron microscopy17.40B/BB35-210[»]
SMRiO00217
ModBaseiSearch...

Protein-protein interaction databases

BioGridi110806, 76 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO00217
IntActiO00217, 38 interactors
MINTiO00217
STRINGi9606.ENSP00000315774

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB13257 Ferrous sulfate anhydrous
DB00157 NADH

DrugCentral

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DrugCentrali
O00217

PTM databases

CarbonylDBiO00217
iPTMnetiO00217
PhosphoSitePlusiO00217
SwissPalmiO00217

Polymorphism and mutation databases

BioMutaiNDUFS8

2D gel databases

OGPiO00217

Proteomic databases

EPDiO00217
jPOSTiO00217
MassIVEiO00217
MaxQBiO00217
PaxDbiO00217
PeptideAtlasiO00217
PRIDEiO00217
ProteomicsDBi47787
TopDownProteomicsiO00217

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313468; ENSP00000315774; ENSG00000110717
GeneIDi4728
KEGGihsa:4728
UCSCiuc001onc.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
4728
DisGeNETi4728

GeneCards: human genes, protein and diseases

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GeneCardsi
NDUFS8
GeneReviewsiNDUFS8
HGNCiHGNC:7715 NDUFS8
HPAiHPA018524
MalaCardsiNDUFS8
MIMi602141 gene
618222 phenotype
neXtProtiNX_O00217
OpenTargetsiENSG00000110717
Orphaneti2609 Isolated complex I deficiency
255241 Leigh syndrome with leukodystrophy
PharmGKBiPA31525

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3256 Eukaryota
COG1143 LUCA
GeneTreeiENSGT00390000003049
HOGENOMiHOG000228289
InParanoidiO00217
KOiK03941
OMAiKYFLMTE
OrthoDBi1283957at2759
PhylomeDBiO00217
TreeFamiTF105610

Enzyme and pathway databases

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

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
NDUFS8

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

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GenomeRNAii
4728

Pharos

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Pharosi
O00217

Protein Ontology

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PROi
PR:O00217

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000110717 Expressed in 239 organ(s), highest expression level in right adrenal gland
ExpressionAtlasiO00217 baseline and differential
GenevisibleiO00217 HS

Family and domain databases

HAMAPiMF_01351 NDH1_NuoI, 1 hit
InterProiView protein in InterPro
IPR017896 4Fe4S_Fe-S-bd
IPR017900 4Fe4S_Fe_S_CS
IPR010226 NADH_quinone_OxRdtase_chainI
PANTHERiPTHR10849 PTHR10849, 1 hit
PfamiView protein in Pfam
PF12838 Fer4_7, 1 hit
TIGRFAMsiTIGR01971 NuoI, 1 hit
PROSITEiView protein in PROSITE
PS00198 4FE4S_FER_1, 2 hits
PS51379 4FE4S_FER_2, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

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 nameiNDUS8_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: O00217
Secondary accession number(s): B2RB86, Q0VDA8
<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: November 1, 1997
Last sequence update: July 1, 1997
Last modified: September 18, 2019
This is version 187 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, 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 chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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