O43181 (NDUS4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 109.
History...
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 names |
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| Organism | Homo sapiens (Human) | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 175 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence 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 mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the mitochondrial respiratory chain that causes a wide range of clinical disorders, 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. Ref.1 |
| Sequence similarities | Belongs to the complex I NDUFS4 subunit family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 42 | 42 | Mitochondrion By similarity | ||||||
| Chain | 43 – 175 | 133 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial | PRO_0000020038 | |||||
Amino acid modifications | |||||||||
| Modified residue | 32 | 1 | Phosphothreonine Ref.4 | ||||||
| Modified residue | 34 | 1 | Phosphoserine Ref.4 | ||||||
Natural variations | |||||||||
| Natural variant | 174 | 1 | T → P. Corresponds to variant rs1044692 [ dbSNP | Ensembl ]. | VAR_012037 | |||||
Experimental info | |||||||||
| Sequence conflict | 39 | 1 | T → S in AAH05270. Ref.2 | ||||||
Sequences
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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] | "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: 12611891] [Abstract] Cited for: MASS SPECTROMETRY, IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX. |
| [4] | "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: Leukemic T-cell. |
| [5] | "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: 21269460] [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. |
| IPI | IPI00011217. |
| RefSeq | NP_002486.1. NM_002495.2. |
| UniGene | Hs.528222. |
3D structure databases | |
| ProteinModelPortal | O43181. |
| SMR | O43181. Positions 75-152. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O43181. 2 interactions. |
| STRING | O43181. |
PTM databases | |
| PhosphoSite | O43181. |
2D gel databases | |
| UCD-2DPAGE | O43181. |
Proteomic databases | |
| PeptideAtlas | O43181. |
| PRIDE | O43181. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000296684; ENSP00000296684; ENSG00000164258. |
| GeneID | 4724. |
| KEGG | hsa:4724. |
| UCSC | uc003jpe.2. human. |
Organism-specific databases | |
| CTD | 4724. |
| GeneCards | GC05P052892. |
| H-InvDB | HIX0004857. |
| HGNC | HGNC:7711. NDUFS4. |
| HPA | HPA003884. |
| MIM | 252010. phenotype. 602694. gene. |
| neXtProt | NX_O43181. |
| Orphanet | 2609. Isolated NADH-CoQ reductase deficiency. 255241. Leigh syndrome with leukodystrophy. |
| PharmGKB | PA31521. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG16208. |
| GeneTree | ENSGT00390000013835. |
| HOGENOM | HBG600003. |
| HOVERGEN | HBG003007. |
| InParanoid | O43181. |
| OMA | ERNGWRW. |
| PhylomeDB | O43181. |
Enzyme and pathway databases | |
| Reactome | REACT_111217. Metabolism. |
Gene expression databases | |
| ArrayExpress | O43181. |
| Bgee | O43181. |
| CleanEx | HS_NDUFS4. |
| Genevestigator | O43181. |
| GermOnline | ENSG00000164258. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006885. NADH_UbQ_FeS_4_mit. [Graphical view] |
| KO | K03937. |
| PANTHER | PTHR12219. ETC_CI_21. 1 hit. |
| Pfam | PF04800. ETC_C1_NDUFA4. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| DrugBank | DB00157. NADH. |
| NextBio | 18218. |
| SOURCE | Search... |
Entry information
| Entry name | NDUS4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O43181 Secondary accession number(s): Q9BS69 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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 |

Clusters with