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Protein

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

Gene

NDUFS4

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

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
MIMi602694 gene
neXtProtiNX_O43181

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 complex I 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
ProteomicsDBi48793
TopDownProteomicsiO43181

2D gel databases

UCD-2DPAGEiO43181

PTM databases

CarbonylDBiO43181
iPTMnetiO43181
PhosphoSitePlusiO43181

Expressioni

Gene expression databases

BgeeiENSG00000164258 Expressed in 237 organ(s), highest expression level in quadriceps femoris
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
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO43181
IntActiO43181, 34 interactors
MINTiO43181
STRINGi9606.ENSP00000296684

Structurei

Secondary structure

1175
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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
OMAiNDLMGYQ
OrthoDBiEOG091G0LT1
PhylomeDBiO43181
TreeFamiTF105619

Family and domain databases

Gene3Di3.30.160.190, 1 hit
InterProiView protein in InterPro
IPR006885 NADH_UbQ_FeS_4_mit
IPR038532 NDUFS4-like_sf
PANTHERiPTHR12219 PTHR12219, 1 hit
PfamiView protein in Pfam
PF04800 ETC_C1_NDUFA4, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y9M8H0Y9M8_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS4
116Annotation score:
D6RI09D6RI09_HUMAN
NADH dehydrogenase Fe-S protein 4 1...
NDUFS4
131Annotation score:
D6R916D6R916_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS4
73Annotation score:
D6REP1D6REP1_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS4
49Annotation score:

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

Cross-referencesi

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

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTBelectron microscopy3.40L58-175[»]
5XTDelectron microscopy3.70L58-175[»]
5XTHelectron microscopy3.90L58-175[»]
5XTIelectron microscopy17.40BL/L58-175[»]
ProteinModelPortaliO43181
SMRiO43181
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110803, 83 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO43181
IntActiO43181, 34 interactors
MINTiO43181
STRINGi9606.ENSP00000296684

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

PTM databases

CarbonylDBiO43181
iPTMnetiO43181
PhosphoSitePlusiO43181

Polymorphism and mutation databases

BioMutaiNDUFS4

2D gel databases

UCD-2DPAGEiO43181

Proteomic databases

EPDiO43181
MaxQBiO43181
PaxDbiO43181
PeptideAtlasiO43181
PRIDEiO43181
ProteomicsDBi48793
TopDownProteomicsiO43181

Protocols and materials databases

DNASUi4724
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi4724
DisGeNETi4724
EuPathDBiHostDB:ENSG00000164258.11
GeneCardsiNDUFS4
HGNCiHGNC:7711 NDUFS4
HPAiHPA003884
MalaCardsiNDUFS4
MIMi252010 phenotype
256000 phenotype
602694 gene
neXtProtiNX_O43181
OpenTargetsiENSG00000164258
Orphaneti2609 Isolated complex I deficiency
255241 Leigh syndrome with leukodystrophy
PharmGKBiPA31521
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiNDUFS4 human
GeneWikiiNDUFS4
GenomeRNAii4724
PROiPR:O43181
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164258 Expressed in 237 organ(s), highest expression level in quadriceps femoris
CleanExiHS_NDUFS4
ExpressionAtlasiO43181 baseline and differential
GenevisibleiO43181 HS

Family and domain databases

Gene3Di3.30.160.190, 1 hit
InterProiView protein in InterPro
IPR006885 NADH_UbQ_FeS_4_mit
IPR038532 NDUFS4-like_sf
PANTHERiPTHR12219 PTHR12219, 1 hit
PfamiView protein in Pfam
PF04800 ETC_C1_NDUFA4, 1 hit
ProtoNetiSearch...

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: November 7, 2018
This is version 165 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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