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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.

GO - Molecular functioni

  • NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

  • brain development Source: UniProtKB
  • cAMP-mediated signaling Source: UniProtKB
  • cellular metabolic process Source: Reactome
  • cellular respiration Source: UniProtKB
  • mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  • 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
  • respiratory electron transport chain Source: Reactome
  • response to cAMP Source: UniProtKB
  • small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

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
ProteomesiUP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:7711. NDUFS4.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)

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

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiNDUFS4.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4242MitochondrionBy similarityAdd
BLAST
Chaini43 – 175133NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrialPRO_0000020038Add
BLAST

Proteomic databases

MaxQBiO43181.
PaxDbiO43181.
PeptideAtlasiO43181.
PRIDEiO43181.

2D gel databases

UCD-2DPAGEO43181.

PTM databases

PhosphoSiteiO43181.

Expressioni

Gene expression databases

BgeeiO43181.
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.1 Publication

Protein-protein interaction databases

BioGridi110803. 32 interactions.
IntActiO43181. 2 interactions.
STRINGi9606.ENSP00000296684.

Structurei

3D structure databases

ProteinModelPortaliO43181.
SMRiO43181. Positions 78-147.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFS4 subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiNOG79671.
GeneTreeiENSGT00390000013835.
HOGENOMiHOG000140414.
HOVERGENiHBG003007.
InParanoidiO43181.
KOiK03937.
OMAiNGWRWFV.
PhylomeDBiO43181.
TreeFamiTF105619.

Family and domain databases

InterProiIPR006885. NADH_UbQ_FeS_4_mit.
[Graphical view]
PANTHERiPTHR12219. PTHR12219. 1 hit.
PfamiPF04800. ETC_C1_NDUFA4. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti39 – 391T → S in AAH05270 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741T → P.
Corresponds to variant rs1044692 [ dbSNP | Ensembl ].
VAR_012037

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_002495.2.
UniGeneiHs.528222.

Genome annotation databases

EnsembliENST00000296684; ENSP00000296684; ENSG00000164258.
GeneIDi4724.
KEGGihsa:4724.
UCSCiuc003jpe.2. human.

Keywords - Coding sequence diversityi

Polymorphism

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_002495.2.
UniGeneiHs.528222.

3D structure databases

ProteinModelPortaliO43181.
SMRiO43181. Positions 78-147.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110803. 32 interactions.
IntActiO43181. 2 interactions.
STRINGi9606.ENSP00000296684.

Chemistry

ChEMBLiCHEMBL2363065.

PTM databases

PhosphoSiteiO43181.

Polymorphism and mutation databases

BioMutaiNDUFS4.

2D gel databases

UCD-2DPAGEO43181.

Proteomic databases

MaxQBiO43181.
PaxDbiO43181.
PeptideAtlasiO43181.
PRIDEiO43181.

Protocols and materials databases

DNASUi4724.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296684; ENSP00000296684; ENSG00000164258.
GeneIDi4724.
KEGGihsa:4724.
UCSCiuc003jpe.2. human.

Organism-specific databases

CTDi4724.
GeneCardsiGC05P052892.
HGNCiHGNC:7711. NDUFS4.
HPAiHPA003884.
MIMi252010. phenotype.
602694. gene.
neXtProtiNX_O43181.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31521.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG79671.
GeneTreeiENSGT00390000013835.
HOGENOMiHOG000140414.
HOVERGENiHBG003007.
InParanoidiO43181.
KOiK03937.
OMAiNGWRWFV.
PhylomeDBiO43181.
TreeFamiTF105619.

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSiNDUFS4. human.
GeneWikiiNDUFS4.
GenomeRNAii4724.
NextBioi18218.
PROiO43181.
SOURCEiSearch...

Gene expression databases

BgeeiO43181.
CleanExiHS_NDUFS4.
ExpressionAtlasiO43181. baseline and differential.
GenevisibleiO43181. HS.

Family and domain databases

InterProiIPR006885. NADH_UbQ_FeS_4_mit.
[Graphical view]
PANTHERiPTHR12219. PTHR12219. 1 hit.
PfamiPF04800. ETC_C1_NDUFA4. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit."
    van den Heuvel L., Ruitenbeek W., Smeets R., Gelman-Kohan Z., Elpeleg O., Loeffen J., Trijbels F., Mariman E., de Bruijn D., Smeitink J.
    Am. J. Hum. Genet. 62:262-268(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], DISEASE.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Urinary bladder.
  3. "The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification."
    Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F., Ghosh S.S., Capaldi R.A.
    J. Biol. Chem. 278:13619-13622(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
  4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiNDUS4_HUMAN
AccessioniPrimary (citable) accession number: O43181
Secondary accession number(s): Q9BS69
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 1, 1998
Last modified: June 24, 2015
This is version 137 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.