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Reviewed, UniProtKB/Swiss-Prot O43181 (NDUS4_HUMAN)

Last modified November 3, 2009. Version 87. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
Alternative name(s):
    NADH-ubiquinone oxidoreductase 18 kDa subunit
    Complex I-18 kDa
      Short name=CI-18 kDa
    Complex I-AQDQ
      Short name=CI-AQDQ
Gene names
Name: NDUFS4
OrganismHomo sapiens (Human) [Complete 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.

Subcellular location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Involvement in disease

Defects in NDUFS4 are a cause of complex I mitochondrial respiratory chain deficiency [MIM:252010]. Complex I (NADH-ubiquinone oxidoreductase), the largest complex of the mitochondrial respiratory chain, contains more than 40 subunits. It is embedded in the inner mitochondrial membrane and is partly protruding in the matrix. Complex I deficiency is the most common cause of mitochondrial disorders. It represents largely one-third of all cases of respiratory chain deficiency and is responsible for a variety of clinical symptoms, ranging from neurological disorders to cardiomyopathy, liver failure, and myopathy. Ref.1

Sequence similarities

Belongs to the complex I NDUFS4 subunit family.

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

Amino acid modifications

Modified residue321Phosphothreonine Ref.3
Modified residue341Phosphoserine Ref.3

Natural variations

Natural variant1741T → P: dbSNP rs1044692.
VAR_012037

Experimental info

Sequence conflict391T → S in AAH05270. Ref.2

Sequences

Sequence LengthMass (Da)Tools
O43181-1 [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: 9463323] [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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Urinary bladder.
[3]"Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry."
Tao W.A., Wollscheid B., O'Brien R., Eng J.K., Li X.-J., Bodenmiller B., Watts J.D., Hood L., Aebersold R.
Nat. Methods 2:591-598(2005) [PubMed: 16094384] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-32 AND SER-34, MASS SPECTROMETRY.
Tissue: T-cell.
[4]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

AF020351 mRNA. Translation: AAB87865.1.
BC005270 mRNA. Translation: AAH05270.1.
IPIIPI00011217.
RefSeqNP_002486.1.
UniGeneHs.528222

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

STRINGO43181.

PTM databases

PhosphoSiteO43181.

Proteomic databases

PeptideAtlasO43181.
PRIDEO43181.

Genome annotation databases

EnsemblENST00000296684; ENSP00000296684; ENSG00000164258; Homo sapiens. [Genome view]
GeneID4724.
KEGGhsa:4724.
UCSCuc003jpe.2. human.

Organism-specific databases

CTD4724.
GeneCardsGC05P052892.
H-InvDBHIX0004857.
HGNCHGNC:7711. NDUFS4.
HPAHPA003884.
MIM252010. phenotype.
602694. gene.
Orphanet506. Leigh syndrome.
2609. NADH-CoQ reductase deficiency.
PharmGKBPA31521.
GenAtlasSearch...

Phylogenomic databases

HOVERGENO43181.
OMANPLMGWS.

Enzyme and pathway databases

ReactomeREACT_1505. Integration of energy metabolism.
REACT_15380. Diabetes pathways.

Gene expression databases

ArrayExpressO43181.
BgeeO43181.
CleanExHS_NDUFS4.
GenevestigatorO43181.
GermOnlineENSG00000164258. Homo sapiens.

Family and domain databases

InterProIPR006885. ETC-cplx-1_su_cons-reg.
[Graphical view]
PANTHERPTHR12219. ETC_CI_21. 1 hit.
PfamPF04800. ETC_C1_NDUFA4. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

DrugBankDB00157. NADH.
NextBio18218.
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: November 3, 2009
This is version 87 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
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

Human chromosome 5

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents