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O43181 (NDUS4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:NDUFS4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length175 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme. Ref.3

Subcellular location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Involvement in disease

Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Sequence similarities

Belongs to the complex I NDUFS4 subunit family.

Ontologies

Keywords
   Biological processElectron transport
Respiratory chain
Transport
   Cellular componentMembrane
Mitochondrion
Mitochondrion inner membrane
   Coding sequence diversityPolymorphism
   DomainTransit peptide
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processbrain development

Inferred from mutant phenotype PubMed 14765537. Source: UniProtKB

cAMP-mediated signaling

Inferred from mutant phenotype PubMed 11165261PubMed 11181577. Source: UniProtKB

cellular metabolic process

Traceable author statement. Source: Reactome

cellular respiration

Inferred from mutant phenotype PubMed 16478720. Source: UniProtKB

mitochondrial electron transport, NADH to ubiquinone

Non-traceable author statement Ref.1PubMed 9878551. Source: UniProtKB

mitochondrial respiratory chain complex I assembly

Inferred from mutant phenotype PubMed 11112787PubMed 15038602. Source: UniProtKB

positive regulation of fibroblast proliferation

Inferred from mutant phenotype PubMed 16478720. Source: UniProtKB

reactive oxygen species metabolic process

Inferred from mutant phenotype PubMed 16870178. Source: UniProtKB

regulation of protein phosphorylation

Inferred from mutant phenotype PubMed 11165261. Source: MGI

respiratory electron transport chain

Traceable author statement. Source: Reactome

response to cAMP

Inferred from mutant phenotype PubMed 11165261PubMed 11181577. Source: UniProtKB

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentmitochondrial inner membrane

Traceable author statement. Source: Reactome

mitochondrial respiratory chain complex I

Inferred from direct assay Ref.3. Source: UniProtKB

mitochondrion

Inferred from direct assay. Source: HPA

   Molecular_functionNADH dehydrogenase (ubiquinone) activity

Inferred from mutant phenotype PubMed 16478720. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 4242Mitochondrion By similarity
Chain43 – 175133NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
PRO_0000020038

Natural variations

Natural variant1741T → P.
Corresponds to variant rs1044692 [ dbSNP | Ensembl ].
VAR_012037

Experimental info

Sequence conflict391T → S in AAH05270. Ref.2

Sequences

Sequence LengthMass (Da)Tools
O43181 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: DE5B51DBDD76231E

FASTA17520,108
        10         20         30         40         50         60 
MAAVSMSVVL RQTLWRRRAV AVAALSVSRV PTRSLRTSTW RLAQDQTQDT QLITVDEKLD 

        70         80         90        100        110        120 
ITTLTGVPEE HIKTRKVRIF VPARNNMQSG VNNTKKWKME FDTRERWENP LMGWASTADP 

       130        140        150        160        170 
LSNMVLTFST KEDAVSFAEK NGWSYDIEER KVPKPKSKSY GANFSWNKRT RVSTK 

« Hide

References

« Hide 'large scale' references
[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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF020351 mRNA. Translation: AAB87865.1.
BC005270 mRNA. Translation: AAH05270.1.
RefSeqNP_002486.1. NM_002495.2.
UniGeneHs.528222.

3D structure databases

ProteinModelPortalO43181.
SMRO43181. Positions 78-147.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110803. 24 interactions.
IntActO43181. 2 interactions.
STRING9606.ENSP00000296684.

Chemistry

ChEMBLCHEMBL2363065.
DrugBankDB00157. NADH.

PTM databases

PhosphoSiteO43181.

2D gel databases

UCD-2DPAGEO43181.

Proteomic databases

PaxDbO43181.
PeptideAtlasO43181.
PRIDEO43181.

Protocols and materials databases

DNASU4724.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000296684; ENSP00000296684; ENSG00000164258.
GeneID4724.
KEGGhsa:4724.
UCSCuc003jpe.2. human.

Organism-specific databases

CTD4724.
GeneCardsGC05P052892.
HGNCHGNC:7711. NDUFS4.
HPAHPA003884.
MIM252010. phenotype.
602694. gene.
neXtProtNX_O43181.
Orphanet2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBPA31521.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG79671.
HOGENOMHOG000140414.
HOVERGENHBG003007.
InParanoidO43181.
KOK03937.
OMAERNGWRW.
PhylomeDBO43181.
TreeFamTF105619.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressO43181.
BgeeO43181.
CleanExHS_NDUFS4.
GenevestigatorO43181.

Family and domain databases

InterProIPR006885. NADH_UbQ_FeS_4_mit.
[Graphical view]
PANTHERPTHR12219. PTHR12219. 1 hit.
PfamPF04800. ETC_C1_NDUFA4. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNDUFS4. human.
GeneWikiNDUFS4.
GenomeRNAi4724.
NextBio18218.
PROO43181.
SOURCESearch...

Entry information

Entry nameNDUS4_HUMAN
AccessionPrimary (citable) accession number: O43181
Secondary accession number(s): Q9BS69
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: June 1, 1998
Last modified: April 16, 2014
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM