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Protein

Cytochrome c oxidase subunit NDUFA4

Gene

NDUFA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Cytochrome c oxidase (COX, complex IV) is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. Required for complex IV maintenance.1 Publication

Miscellaneous

During complex IV purifications dissociates from complex IV upon treatment with standard detergent DDM (decyl beta-D-maltoside) in high concentrations (PubMed:22902835, PubMed:23746447).2 Publications

Caution

Was initially believed to be a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I).1 Publication

GO - Molecular functioni

  • NADH dehydrogenase (ubiquinone) activity Source: ProtInc
  • protein-containing complex binding Source: MGI

GO - Biological processi

  • mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  • proton transmembrane transport Source: GOC

Keywordsi

Biological processElectron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase subunit NDUFA4
Alternative name(s):
Complex I-MLRQ
Short name:
CI-MLRQ
NADH-ubiquinone oxidoreductase MLRQ subunit
Gene namesi
Name:NDUFA4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000189043.9
HGNCiHGNC:7687 NDUFA4
MIMi603833 gene
neXtProtiNX_O00483

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; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Leigh syndrome (LS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
See also OMIM:256000

Keywords - Diseasei

Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4697
MalaCardsiNDUFA4
MIMi256000 phenotype
OpenTargetsiENSG00000189043
Orphaneti254905 Isolated cytochrome C oxidase deficiency
PharmGKBiPA31493

Chemistry databases

ChEMBLiCHEMBL2317
DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiNDUFA4

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001188211 – 81Cytochrome c oxidase subunit NDUFA4Add BLAST81

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei10N6-acetyllysineBy similarity1
Modified residuei66PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO00483
MaxQBiO00483
PaxDbiO00483
PeptideAtlasiO00483
PRIDEiO00483
ProteomicsDBi47931
TopDownProteomicsiO00483

PTM databases

iPTMnetiO00483
PhosphoSitePlusiO00483
SwissPalmiO00483

Expressioni

Gene expression databases

BgeeiENSG00000189043 Expressed in 240 organ(s), highest expression level in myocardium
CleanExiHS_NDUFA4
ExpressionAtlasiO00483 baseline and differential
GenevisibleiO00483 HS

Organism-specific databases

HPAiHPA055323

Interactioni

Subunit structurei

Component of the cytochrome c oxidase complex (COX, complex IV).1 Publication

Protein-protein interaction databases

BioGridi110777, 164 interactors
CORUMiO00483
IntActiO00483, 48 interactors
MINTiO00483
STRINGi9606.ENSP00000339720

Chemistry databases

BindingDBiO00483

Structurei

3D structure databases

ProteinModelPortaliO00483
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex IV NDUFA4 subunit family.Curated

Phylogenomic databases

eggNOGiENOG410J0TX Eukaryota
ENOG41124SW LUCA
GeneTreeiENSGT00390000010457
HOGENOMiHOG000261679
HOVERGENiHBG006548
InParanoidiO00483
KOiK03948
OMAiRLAMFNP
OrthoDBiEOG091G1352
PhylomeDBiO00483
TreeFamiTF106383

Family and domain databases

InterProiView protein in InterPro
IPR010530 B12D
PANTHERiPTHR14256 PTHR14256, 1 hit
PfamiView protein in Pfam
PF06522 B12D, 1 hit

Sequencei

Sequence statusi: Complete.

O00483-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLRQIIGQAK KHPSLIPLFV FIGTGATGAT LYLLRLALFN PDVCWDRNNP
60 70 80
EPWNKLGPND QYKFYSVNVD YSKLKKERPD F
Length:81
Mass (Da):9,370
Last modified:July 1, 1997 - v1
Checksum:i2FA1D1115EDE24C7
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U94586 mRNA Translation: AAB52726.1
AF201077 mRNA Translation: AAF09253.1
CR407618 mRNA Translation: CAG28546.1
CR541716 mRNA Translation: CAG46517.1
CH236948 Genomic DNA Translation: EAL24297.1
CH471073 Genomic DNA Translation: EAW93631.1
BC105295 mRNA Translation: AAI05296.1
BC101794 mRNA Translation: AAI01795.1
BC101796 mRNA Translation: AAI01797.1
CCDSiCCDS5357.1
RefSeqiNP_002480.1, NM_002489.3
UniGeneiHs.50098

Genome annotation databases

EnsembliENST00000339600; ENSP00000339720; ENSG00000189043
GeneIDi4697
KEGGihsa:4697
UCSCiuc003srx.3 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U94586 mRNA Translation: AAB52726.1
AF201077 mRNA Translation: AAF09253.1
CR407618 mRNA Translation: CAG28546.1
CR541716 mRNA Translation: CAG46517.1
CH236948 Genomic DNA Translation: EAL24297.1
CH471073 Genomic DNA Translation: EAW93631.1
BC105295 mRNA Translation: AAI05296.1
BC101794 mRNA Translation: AAI01795.1
BC101796 mRNA Translation: AAI01797.1
CCDSiCCDS5357.1
RefSeqiNP_002480.1, NM_002489.3
UniGeneiHs.50098

3D structure databases

ProteinModelPortaliO00483
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110777, 164 interactors
CORUMiO00483
IntActiO00483, 48 interactors
MINTiO00483
STRINGi9606.ENSP00000339720

Chemistry databases

BindingDBiO00483
ChEMBLiCHEMBL2317
DrugBankiDB00157 NADH

PTM databases

iPTMnetiO00483
PhosphoSitePlusiO00483
SwissPalmiO00483

Polymorphism and mutation databases

BioMutaiNDUFA4

Proteomic databases

EPDiO00483
MaxQBiO00483
PaxDbiO00483
PeptideAtlasiO00483
PRIDEiO00483
ProteomicsDBi47931
TopDownProteomicsiO00483

Protocols and materials databases

DNASUi4697
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339600; ENSP00000339720; ENSG00000189043
GeneIDi4697
KEGGihsa:4697
UCSCiuc003srx.3 human

Organism-specific databases

CTDi4697
DisGeNETi4697
EuPathDBiHostDB:ENSG00000189043.9
GeneCardsiNDUFA4
HGNCiHGNC:7687 NDUFA4
HPAiHPA055323
MalaCardsiNDUFA4
MIMi256000 phenotype
603833 gene
neXtProtiNX_O00483
OpenTargetsiENSG00000189043
Orphaneti254905 Isolated cytochrome C oxidase deficiency
PharmGKBiPA31493
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J0TX Eukaryota
ENOG41124SW LUCA
GeneTreeiENSGT00390000010457
HOGENOMiHOG000261679
HOVERGENiHBG006548
InParanoidiO00483
KOiK03948
OMAiRLAMFNP
OrthoDBiEOG091G1352
PhylomeDBiO00483
TreeFamiTF106383

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

Miscellaneous databases

ChiTaRSiNDUFA4 human
GenomeRNAii4697
PROiPR:O00483
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000189043 Expressed in 240 organ(s), highest expression level in myocardium
CleanExiHS_NDUFA4
ExpressionAtlasiO00483 baseline and differential
GenevisibleiO00483 HS

Family and domain databases

InterProiView protein in InterPro
IPR010530 B12D
PANTHERiPTHR14256 PTHR14256, 1 hit
PfamiView protein in Pfam
PF06522 B12D, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNDUA4_HUMAN
AccessioniPrimary (citable) accession number: O00483
Secondary accession number(s): A4D109, Q6FHN5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 1, 1997
Last modified: October 10, 2018
This is version 159 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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