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Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial

Gene

NDUFS4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.2 Publications

GO - Molecular functioni

  • NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

  • brain development Source: UniProtKB
  • cAMP-mediated signaling Source: UniProtKB
  • cellular respiration Source: UniProtKB
  • mitochondrial electron transport, NADH to ubiquinone Source: Reactome
  • mitochondrial respiratory chain complex I assembly Source: UniProtKB
  • positive regulation of fibroblast proliferation Source: UniProtKB
  • reactive oxygen species metabolic process Source: UniProtKB
  • regulation of protein phosphorylation Source: MGI
  • response to cAMP Source: UniProtKB

Keywordsi

Biological processElectron transport, Respiratory chain, Transport

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
Alternative name(s):
Complex I-18 kDa
Short name:
CI-18 kDa
Complex I-AQDQ
Short name:
CI-AQDQ
NADH-ubiquinone oxidoreductase 18 kDa subunit
Gene namesi
Name:NDUFS4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000164258.11.
HGNCiHGNC:7711. NDUFS4.

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

Mitochondrial complex I deficiency (MT-C1D)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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.
See also OMIM:252010
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07894315 – 175Missing in MT-C1D. 1 PublicationAdd BLAST161
Natural variantiVAR_07894497 – 175Missing in MT-C1D. 1 PublicationAdd BLAST79
Leigh syndrome (LS)4 Publications
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078945106 – 175Missing in LS. 1 PublicationAdd BLAST70
Natural variantiVAR_078946119D → H in LS. 1 PublicationCorresponds to variant dbSNP:rs747359752Ensembl.1

Keywords - Diseasei

Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4724.
MalaCardsiNDUFS4.
MIMi252010. phenotype.
256000. phenotype.
OpenTargetsiENSG00000164258.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31521.

Chemistry databases

ChEMBLiCHEMBL2363065.
DrugBankiDB00157. NADH.

Polymorphism and mutation databases

BioMutaiNDUFS4.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 42MitochondrionBy similarityAdd BLAST42
ChainiPRO_000002003843 – 175NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrialAdd BLAST133

Proteomic databases

EPDiO43181.
MaxQBiO43181.
PaxDbiO43181.
PeptideAtlasiO43181.
PRIDEiO43181.
TopDownProteomicsiO43181.

2D gel databases

UCD-2DPAGEiO43181.

PTM databases

iPTMnetiO43181.
PhosphoSitePlusiO43181.

Expressioni

Gene expression databases

BgeeiENSG00000164258.
CleanExiHS_NDUFS4.
ExpressionAtlasiO43181. baseline and differential.
GenevisibleiO43181. HS.

Organism-specific databases

HPAiHPA003884.

Interactioni

Subunit structurei

Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.2 Publications

Protein-protein interaction databases

BioGridi110803. 83 interactors.
CORUMiO43181.
IntActiO43181. 26 interactors.
STRINGi9606.ENSP00000296684.

Structurei

3D structure databases

ProteinModelPortaliO43181.
SMRiO43181.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFS4 subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3389. Eukaryota.
ENOG4111TR4. LUCA.
GeneTreeiENSGT00390000013835.
HOGENOMiHOG000140414.
HOVERGENiHBG003007.
InParanoidiO43181.
KOiK03937.
OMAiPLKHIRT.
OrthoDBiEOG091G0LT1.
PhylomeDBiO43181.
TreeFamiTF105619.

Family and domain databases

InterProiView protein in InterPro
IPR006885. NADH_UbQ_FeS_4_mit.
PANTHERiPTHR12219. PTHR12219. 1 hit.
PfamiView protein in Pfam
PF04800. ETC_C1_NDUFA4. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

O43181-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAVSMSVVL RQTLWRRRAV AVAALSVSRV PTRSLRTSTW RLAQDQTQDT
60 70 80 90 100
QLITVDEKLD ITTLTGVPEE HIKTRKVRIF VPARNNMQSG VNNTKKWKME
110 120 130 140 150
FDTRERWENP LMGWASTADP LSNMVLTFST KEDAVSFAEK NGWSYDIEER
160 170
KVPKPKSKSY GANFSWNKRT RVSTK
Length:175
Mass (Da):20,108
Last modified:June 1, 1998 - v1
Checksum:iDE5B51DBDD76231E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti39T → S in AAH05270 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07894315 – 175Missing in MT-C1D. 1 PublicationAdd BLAST161
Natural variantiVAR_07894497 – 175Missing in MT-C1D. 1 PublicationAdd BLAST79
Natural variantiVAR_078945106 – 175Missing in LS. 1 PublicationAdd BLAST70
Natural variantiVAR_078946119D → H in LS. 1 PublicationCorresponds to variant dbSNP:rs747359752Ensembl.1
Natural variantiVAR_012037174T → P. Corresponds to variant dbSNP:rs1044692Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF020351 mRNA. Translation: AAB87865.1.
BC005270 mRNA. Translation: AAH05270.1.
CCDSiCCDS3960.1.
RefSeqiNP_002486.1. NM_002495.3.
UniGeneiHs.528222.

Genome annotation databases

EnsembliENST00000296684; ENSP00000296684; ENSG00000164258.
GeneIDi4724.
KEGGihsa:4724.
UCSCiuc003jpe.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNDUS4_HUMAN
AccessioniPrimary (citable) accession number: O43181
Secondary accession number(s): Q9BS69
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 1, 1998
Last modified: September 27, 2017
This is version 156 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 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families