Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Cytochrome c oxidase subunit NDUFA4

Gene

NDUFA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Molecular functioni

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

GO - Biological processi

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

HGNCiHGNC:7687. NDUFA4.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • mitochondrial inner membrane Source: Reactome
  • mitochondrial respiratory chain complex I Source: UniProtKB
  • mitochondrial respiratory chain complex IV Source: UniProtKB
  • mitochondrion Source: MGI

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.
TopDownProteomicsiO00483.

PTM databases

iPTMnetiO00483.
PhosphoSitePlusiO00483.
SwissPalmiO00483.

Expressioni

Gene expression databases

BgeeiENSG00000189043.
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

GO - Molecular functioni

  • protein complex binding Source: MGI

Protein-protein interaction databases

BioGridi110777. 162 interactors.
IntActiO00483. 38 interactors.
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

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: August 30, 2017
This is version 149 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

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families