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UniProtKB - P28331 (NDUS1_HUMAN)

Entry version 226 (25 May 2022)
Sequence version 3 (07 Mar 2006)
Previous versions | rss
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Protein

NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial

Gene

NDUFS1

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

Annotation score:5 out of 5

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

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

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:30879903, PubMed:31557978).

Essential for catalysing the entry and efficient transfer of electrons within complex I (PubMed:31557978).

Plays a key role in the assembly and stability of complex I and participates in the association of complex I with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978).

2 Publications

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

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

Protein has several cofactor binding sites:

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi64Iron-sulfur (2Fe-2S)By similarity1
Metal bindingi75Iron-sulfur (2Fe-2S)By similarity1
Metal bindingi78Iron-sulfur (2Fe-2S)By similarity1
Metal bindingi92Iron-sulfur (2Fe-2S)By similarity1
Metal bindingi124Iron-sulfur (4Fe-4S) 1; via tele nitrogenPROSITE-ProRule annotation1
Metal bindingi128Iron-sulfur (4Fe-4S) 1PROSITE-ProRule annotation1
Metal bindingi131Iron-sulfur (4Fe-4S) 1PROSITE-ProRule annotation1
Metal bindingi137Iron-sulfur (4Fe-4S) 1PROSITE-ProRule annotation1
Metal bindingi176Iron-sulfur (4Fe-4S) 2By similarity1
Metal bindingi179Iron-sulfur (4Fe-4S) 2By similarity1
Metal bindingi182Iron-sulfur (4Fe-4S) 2By similarity1
Metal bindingi226Iron-sulfur (4Fe-4S) 2By 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

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
Ligand2Fe-2S, 4Fe-4S, Iron, Iron-sulfur, Metal-binding, NAD, Ubiquinone

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P28331

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P28331

SIGNOR Signaling Network Open Resource

More...SIGNORi		P28331

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial (EC:7.1.1.22 Publications)
Alternative name(s):
Complex I-75kD
Short name:
CI-75kD
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:NDUFS1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic 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%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:7707, NDUFS1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		157655, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P28331

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000023228

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

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

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

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

Mitochondrial complex I deficiency, nuclear type 5 (MC1DN5)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN5 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_084177228V → A in MC1DN5; loss of catalytic activity. 1 Publication1
Natural variantiVAR_019532241R → W in MC1DN5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199422225EnsemblClinVar.1
Natural variantiVAR_019533252D → G in MC1DN5; also found in a patient with muscular hypotonia; loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs199422224EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		4719

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

More...GeneReviewsi		NDUFS1

MalaCards human disease database

More...MalaCardsi		NDUFS1
MIMi618226, phenotype

Open Targets

More...OpenTargetsi		ENSG00000023228

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		PA31518

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P28331, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2363065

Drug and drug target database

More...DrugBanki		DB00157, NADH

DrugCentral

More...DrugCentrali		P28331

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NDUFS1

Domain mapping of disease mutations (DMDM)

More...DMDMi		92090799

<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 – 23MitochondrionCombined sourcesAdd BLAST23
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001996824 – 727NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrialAdd BLAST704

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 residuei84N6-acetyllysineBy similarity1
Modified residuei467N6-acetyllysineBy similarity1
Modified residuei499N6-acetyllysineBy similarity1
Modified residuei709N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-413
CPTAC-414

Encyclopedia of Proteome Dynamics

More...EPDi		P28331

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P28331

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P28331

MaxQB - The MaxQuant DataBase

More...MaxQBi		P28331

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

More...PaxDbi		P28331

PeptideAtlas

More...PeptideAtlasi		P28331

PRoteomics IDEntifications database

More...PRIDEi		P28331

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		17145
54470 [P28331-1]
54471 [P28331-2]
54472 [P28331-3]
54473 [P28331-4]

2D gel databases

REPRODUCTION-2DPAGE

More...REPRODUCTION-2DPAGEi		IPI00604664
P28331

University College Dublin 2-DE Proteome Database

More...UCD-2DPAGEi		P28331

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		P28331

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P28331, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P28331

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P28331

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

More...PhosphoSitePlusi		P28331

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P28331

<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		ENSG00000023228, Expressed in heart and 255 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P28331, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P28331, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000023228, Tissue enhanced (skeletal muscle, tongue)

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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (PubMed:12611891). This is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme (By similarity). Complex I associates with ubiquinol-cytochrome reductase complex (Complex III) to form supercomplexes (PubMed:30879903, PubMed:31557978).

Interacts with MDM2 (PubMed:30879903).

Interacts with AKAP1 (By similarity).

By similarity3 Publications

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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		110799, 328 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		P28331

Protein interaction database and analysis system

More...IntActi		P28331, 108 interactors

Molecular INTeraction database

More...MINTi		P28331

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000392709

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		P28331

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P28331, protein

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

Secondary structure

1727
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		P28331

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

More...SMRi		P28331

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">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>Domaini30 – 1082Fe-2S ferredoxin-typePROSITE-ProRule annotationAdd BLAST79
Domaini108 – 1474Fe-4S His(Cys)3-ligated-typePROSITE-ProRule annotationAdd BLAST40
Domaini245 – 3014Fe-4S Mo/W bis-MGD-typePROSITE-ProRule annotationAdd BLAST57

<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 75 kDa subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2282, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153514

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000422_11_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P28331

Identification of Orthologs from Complete Genome Data

More...OMAi		HKNVGPL

Database of Orthologous Groups

More...OrthoDBi		1095510at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P28331

TreeFam database of animal gene trees

More...TreeFami		TF105756

Family and domain databases

Conserved Domains Database

More...CDDi		cd00207, fer2, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR036010, 2Fe-2S_ferredoxin-like_sf
IPR001041, 2Fe-2S_ferredoxin-type
IPR006656, Mopterin_OxRdtase
IPR006963, Mopterin_OxRdtase_4Fe-4S_dom
IPR000283, NADH_UbQ_OxRdtase_75kDa_su_CS
IPR010228, NADH_UbQ_OxRdtase_Gsu
IPR019574, NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd
IPR015405, NuoG_C

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00384, Molybdopterin, 1 hit
PF10588, NADH-G_4Fe-4S_3, 1 hit
PF09326, NADH_dhqG_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00929, NADH-G_4Fe-4S_3, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54292, SSF54292, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR01973, NuoG, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51085, 2FE2S_FER_2, 1 hit
PS51839, 4FE4S_HC3, 1 hit
PS51669, 4FE4S_MOW_BIS_MGD, 1 hit
PS00641, COMPLEX1_75K_1, 1 hit
PS00642, COMPLEX1_75K_2, 1 hit
PS00643, COMPLEX1_75K_3, 1 hit

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

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

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

This entry describes 5 <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 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P28331-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MLRIPVRKAL VGLSKSPKGC VRTTATAASN LIEVFVDGQS VMVEPGTTVL 
        60         70         80         90        100
QACEKVGMQI PRFCYHERLS VAGNCRMCLV EIEKAPKVVA ACAMPVMKGW 
       110        120        130        140        150
NILTNSEKSK KAREGVMEFL LANHPLDCPI CDQGGECDLQ DQSMMFGNDR 
       160        170        180        190        200
SRFLEGKRAV EDKNIGPLVK TIMTRCIQCT RCIRFASEIA GVDDLGTTGR 
       210        220        230        240        250
GNDMQVGTYI EKMFMSELSG NIIDICPVGA LTSKPYAFTA RPWETRKTES 
       260        270        280        290        300
IDVMDAVGSN IVVSTRTGEV MRILPRMHED INEEWISDKT RFAYDGLKRQ 
       310        320        330        340        350
RLTEPMVRNE KGLLTYTSWE DALSRVAGML QSFQGKDVAA IAGGLVDAEA 
       360        370        380        390        400
LVALKDLLNR VDSDTLCTEE VFPTAGAGTD LRSNYLLNTT IAGVEEADVV 
       410        420        430        440        450
LLVGTNPRFE APLFNARIRK SWLHNDLKVA LIGSPVDLTY TYDHLGDSPK 
       460        470        480        490        500
ILQDIASGSH PFSQVLKEAK KPMVVLGSSA LQRNDGAAIL AAVSSIAQKI 
       510        520        530        540        550
RMTSGVTGDW KVMNILHRIA SQVAALDLGY KPGVEAIRKN PPKVLFLLGA 
       560        570        580        590        600
DGGCITRQDL PKDCFIIYQG HHGDVGAPIA DVILPGAAYT EKSATYVNTE 
       610        620        630        640        650
GRAQQTKVAV TPPGLAREDW KIIRALSEIA GMTLPYDTLD QVRNRLEEVS 
       660        670        680        690        700
PNLVRYDDIE GANYFQQANE LSKLVNQQLL ADPLVPPQLT IKDFYMTDSI 
       710        720 
SRASQTMAKC VKAVTEGAQA VEEPSIC
Length:727
Mass (Da):79,468
Last modified:March 7, 2006 - v3
<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:i9C35F4B8294771FB
GO
Isoform 2 (identifier: P28331-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MRIRGSSGTLSRINM

Show »
Length:741
Mass (Da):80,997
Checksum:iEB7CA8F41E3DF6E2
GO
Isoform 3 (identifier: P28331-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2: ML → MW
     3-113: Missing.

Show »
Length:616
Mass (Da):67,524
Checksum:i16CA2EF571877D03
GO
Isoform 4 (identifier: P28331-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-57: Missing.

Show »
Length:670
Mass (Da):73,527
Checksum:iC8B37BF8C954187F
GO
Isoform 5 (identifier: P28331-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     52-87: Missing.

Show »
Length:691
Mass (Da):75,375
Checksum:i522872E0D6EB9E09
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JPQ5C9JPQ5_HUMAN
NADH-ubiquinone oxidoreductase 75 k...
NDUFS1
130Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WDL5F8WDL5_HUMAN
NADH-ubiquinone oxidoreductase 75 k...
NDUFS1
91Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B4DJ81B4DJ81_HUMAN
NADH-ubiquinone oxidoreductase 75 k...
NDUFS1
611Annotation score:

Annotation score:2 out of 5

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

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 conflicti8K → R in CAA43412 (PubMed:1935949).Curated1
Sequence conflicti417R → W in CAA43412 (PubMed:1935949).Curated1
Sequence conflicti572H → L in BAG58551 (PubMed:14702039).Curated1
Sequence conflicti691I → L in CAA43412 (PubMed:1935949).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_084177228V → A in MC1DN5; loss of catalytic activity. 1 Publication1
Natural variantiVAR_025511241R → Q1 PublicationCorresponds to variant dbSNP:rs17856901Ensembl.1
Natural variantiVAR_019532241R → W in MC1DN5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs199422225EnsemblClinVar.1
Natural variantiVAR_019533252D → G in MC1DN5; also found in a patient with muscular hypotonia; loss of catalytic activity. 2 PublicationsCorresponds to variant dbSNP:rs199422224EnsemblClinVar.1
Natural variantiVAR_069506253V → G1 PublicationCorresponds to variant dbSNP:rs786205666EnsemblClinVar.1
Natural variantiVAR_018463649V → F1 PublicationCorresponds to variant dbSNP:rs1044049Ensembl.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_0437271 – 57Missing in isoform 4. 1 PublicationAdd BLAST57
Alternative sequenceiVSP_0437281 – 2ML → MW in isoform 3. 1 Publication2
Alternative sequenceiVSP_0426821M → MRIRGSSGTLSRINM in isoform 2. Curated1
Alternative sequenceiVSP_0437293 – 113Missing in isoform 3. 1 PublicationAdd BLAST111
Alternative sequenceiVSP_04586452 – 87Missing in isoform 5. 1 PublicationAdd BLAST36

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
X61100 mRNA Translation: CAA43412.1
AK295705 mRNA Translation: BAG58551.1
AK295987 mRNA Translation: BAG58762.1
AK298320 mRNA Translation: BAG60573.1
AK300585 mRNA Translation: BAG62283.1
AC007383 Genomic DNA Translation: AAY15061.1
CH471063 Genomic DNA Translation: EAW70379.1
BC022368 mRNA Translation: AAH22368.1
BC030833 mRNA Translation: AAH30833.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS2366.1 [P28331-1]
CCDS56162.1 [P28331-4]
CCDS56163.1 [P28331-3]
CCDS56164.1 [P28331-5]
CCDS56165.1 [P28331-2]

Protein sequence database of the Protein Information Resource

More...PIRi		S17854

NCBI Reference Sequences

More...RefSeqi		NP_001186910.1, NM_001199981.1 [P28331-5]
NP_001186911.1, NM_001199982.1 [P28331-3]
NP_001186912.1, NM_001199983.1 [P28331-4]
NP_001186913.1, NM_001199984.1 [P28331-2]
NP_004997.4, NM_005006.6 [P28331-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000233190.11; ENSP00000233190.5; ENSG00000023228.14
ENST00000423725.5; ENSP00000397760.1; ENSG00000023228.14 [P28331-4]
ENST00000432169.5; ENSP00000409689.1; ENSG00000023228.14 [P28331-3]
ENST00000440274.5; ENSP00000409766.1; ENSG00000023228.14 [P28331-5]
ENST00000449699.5; ENSP00000399912.1; ENSG00000023228.14
ENST00000455934.6; ENSP00000392709.2; ENSG00000023228.14 [P28331-2]
ENST00000635748.2; ENSP00000489640.1; ENSG00000283447.2
ENST00000636505.1; ENSP00000490898.1; ENSG00000283447.2
ENST00000637298.1; ENSP00000490583.1; ENSG00000283447.2 [P28331-4]
ENST00000637631.1; ENSP00000489705.1; ENSG00000283447.2 [P28331-3]
ENST00000637733.1; ENSP00000490092.1; ENSG00000283447.2 [P28331-2]
ENST00000637990.1; ENSP00000490766.1; ENSG00000283447.2 [P28331-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		4719

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:4719

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000233190.11; ENSP00000233190.5; NM_005006.7; NP_004997.4

UCSC genome browser

More...UCSCi		uc002vbe.4, human [P28331-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X61100 mRNA Translation: CAA43412.1
AK295705 mRNA Translation: BAG58551.1
AK295987 mRNA Translation: BAG58762.1
AK298320 mRNA Translation: BAG60573.1
AK300585 mRNA Translation: BAG62283.1
AC007383 Genomic DNA Translation: AAY15061.1
CH471063 Genomic DNA Translation: EAW70379.1
BC022368 mRNA Translation: AAH22368.1
BC030833 mRNA Translation: AAH30833.1
CCDSiCCDS2366.1 [P28331-1]
CCDS56162.1 [P28331-4]
CCDS56163.1 [P28331-3]
CCDS56164.1 [P28331-5]
CCDS56165.1 [P28331-2]
PIRiS17854
RefSeqiNP_001186910.1, NM_001199981.1 [P28331-5]
NP_001186911.1, NM_001199982.1 [P28331-3]
NP_001186912.1, NM_001199983.1 [P28331-4]
NP_001186913.1, NM_001199984.1 [P28331-2]
NP_004997.4, NM_005006.6 [P28331-1]

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 microscopy3.40M30-716[»]
5XTDelectron microscopy3.70M30-716[»]
5XTHelectron microscopy3.90M30-716[»]
5XTIelectron microscopy17.40BM/M30-716[»]
AlphaFoldDBiP28331
SMRiP28331
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi110799, 328 interactors
ComplexPortaliCPX-577, Mitochondrial respiratory chain complex I
CORUMiP28331
IntActiP28331, 108 interactors
MINTiP28331
STRINGi9606.ENSP00000392709

Chemistry databases

BindingDBiP28331
ChEMBLiCHEMBL2363065
DrugBankiDB00157, NADH
DrugCentraliP28331

PTM databases

CarbonylDBiP28331
GlyGeniP28331, 1 site, 1 O-linked glycan (1 site)
iPTMnetiP28331
MetOSiteiP28331
PhosphoSitePlusiP28331
SwissPalmiP28331

Genetic variation databases

BioMutaiNDUFS1
DMDMi92090799

2D gel databases

REPRODUCTION-2DPAGEiIPI00604664
P28331
UCD-2DPAGEiP28331

Proteomic databases

CPTACiCPTAC-413
CPTAC-414
EPDiP28331
jPOSTiP28331
MassIVEiP28331
MaxQBiP28331
PaxDbiP28331
PeptideAtlasiP28331
PRIDEiP28331
ProteomicsDBi17145
54470 [P28331-1]
54471 [P28331-2]
54472 [P28331-3]
54473 [P28331-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34175, 310 antibodies from 37 providers

The DNASU plasmid repository

More...DNASUi		4719

Genome annotation databases

EnsembliENST00000233190.11; ENSP00000233190.5; ENSG00000023228.14
ENST00000423725.5; ENSP00000397760.1; ENSG00000023228.14 [P28331-4]
ENST00000432169.5; ENSP00000409689.1; ENSG00000023228.14 [P28331-3]
ENST00000440274.5; ENSP00000409766.1; ENSG00000023228.14 [P28331-5]
ENST00000449699.5; ENSP00000399912.1; ENSG00000023228.14
ENST00000455934.6; ENSP00000392709.2; ENSG00000023228.14 [P28331-2]
ENST00000635748.2; ENSP00000489640.1; ENSG00000283447.2
ENST00000636505.1; ENSP00000490898.1; ENSG00000283447.2
ENST00000637298.1; ENSP00000490583.1; ENSG00000283447.2 [P28331-4]
ENST00000637631.1; ENSP00000489705.1; ENSG00000283447.2 [P28331-3]
ENST00000637733.1; ENSP00000490092.1; ENSG00000283447.2 [P28331-2]
ENST00000637990.1; ENSP00000490766.1; ENSG00000283447.2 [P28331-5]
GeneIDi4719
KEGGihsa:4719
MANE-SelectiENST00000233190.11; ENSP00000233190.5; NM_005006.7; NP_004997.4
UCSCiuc002vbe.4, human [P28331-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		4719
DisGeNETi4719

GeneCards: human genes, protein and diseases

More...GeneCardsi		NDUFS1
GeneReviewsiNDUFS1
HGNCiHGNC:7707, NDUFS1
HPAiENSG00000023228, Tissue enhanced (skeletal muscle, tongue)
MalaCardsiNDUFS1
MIMi157655, gene
618226, phenotype
neXtProtiNX_P28331
OpenTargetsiENSG00000023228
Orphaneti2609, Isolated complex I deficiency
255241, Leigh syndrome with leukodystrophy
PharmGKBiPA31518
VEuPathDBiHostDB:ENSG00000023228

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2282, Eukaryota
GeneTreeiENSGT00940000153514
HOGENOMiCLU_000422_11_2_1
InParanoidiP28331
OMAiHKNVGPL
OrthoDBi1095510at2759
PhylomeDBiP28331
TreeFamiTF105756

Enzyme and pathway databases

PathwayCommonsiP28331
ReactomeiR-HSA-611105, Respiratory electron transport
R-HSA-6799198, Complex I biogenesis
SignaLinkiP28331
SIGNORiP28331

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4719, 274 hits in 1090 CRISPR screens

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

More...ChiTaRSi		NDUFS1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		NDUFS1

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

More...GenomeRNAii		4719
PharosiP28331, Tclin

Protein Ontology

More...PROi		PR:P28331
RNActiP28331, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000023228, Expressed in heart and 255 other tissues
ExpressionAtlasiP28331, baseline and differential
GenevisibleiP28331, HS

Family and domain databases

CDDicd00207, fer2, 1 hit
InterProiView protein in InterPro
IPR036010, 2Fe-2S_ferredoxin-like_sf
IPR001041, 2Fe-2S_ferredoxin-type
IPR006656, Mopterin_OxRdtase
IPR006963, Mopterin_OxRdtase_4Fe-4S_dom
IPR000283, NADH_UbQ_OxRdtase_75kDa_su_CS
IPR010228, NADH_UbQ_OxRdtase_Gsu
IPR019574, NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd
IPR015405, NuoG_C
PfamiView protein in Pfam
PF00384, Molybdopterin, 1 hit
PF10588, NADH-G_4Fe-4S_3, 1 hit
PF09326, NADH_dhqG_C, 1 hit
SMARTiView protein in SMART
SM00929, NADH-G_4Fe-4S_3, 1 hit
SUPFAMiSSF54292, SSF54292, 1 hit
TIGRFAMsiTIGR01973, NuoG, 1 hit
PROSITEiView protein in PROSITE
PS51085, 2FE2S_FER_2, 1 hit
PS51839, 4FE4S_HC3, 1 hit
PS51669, 4FE4S_MOW_BIS_MGD, 1 hit
PS00641, COMPLEX1_75K_1, 1 hit
PS00642, COMPLEX1_75K_2, 1 hit
PS00643, COMPLEX1_75K_3, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiNDUS1_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: P28331
Secondary accession number(s): B4DIN9
, B4DJA0, B4DPG1, B4DUC1, E7ENF3, Q53TR8, Q8N1C4, Q8TCC9
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: March 7, 2006
Last modified: May 25, 2022
This is version 226 of the entry and version 3 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, Direct protein sequencing, Reference proteome

Documents

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