Reviewed,
UniProtKB/Swiss-Prot O00217 (NDUS8_HUMAN)
Last modified
June 16, 2009.
Version 88.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial EC=1.6.5.3 EC=1.6.99.3 Alternative name(s): NADH-ubiquinone oxidoreductase 23 kDa subunit Complex I-23kD Short name=CI-23kD TYKY subunit | ||
| Gene names |
| ||
| 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 | 210 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 | Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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 By similarity. May donate electrons to ubiquinone. |
| Catalytic activity | NADH + ubiquinone = NAD+ + ubiquinol. NADH + acceptor = NAD+ + reduced acceptor. |
| Cofactor | Binds 2 4Fe-4S clusters per subunit By similarity. |
| Subunit structure | Mammalian complex I is composed of 45 different subunits. |
| Subcellular location | Mitochondrion Probable. |
| Involvement in disease | Defects in NDUFS8 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Ref.6 |
| Sequence similarities | Belongs to the complex I 23 kDa subunit family. Contains 2 4Fe-4S ferredoxin-type domains. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 34 | 34 | Mitochondrion By similarity | ||||||
| Chain | 35 – 210 | 176 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial | PRO_0000020012 | |||||
Regions | |||||||||
| Domain | 102 – 131 | 30 | 4Fe-4S ferredoxin-type 1 | ||||||
| Domain | 141 – 170 | 30 | 4Fe-4S ferredoxin-type 2 | ||||||
Sites | |||||||||
| Metal binding | 111 | 1 | Iron-sulfur 1 (4Fe-4S) By similarity | ||||||
| Metal binding | 114 | 1 | Iron-sulfur 1 (4Fe-4S) By similarity | ||||||
| Metal binding | 117 | 1 | Iron-sulfur 1 (4Fe-4S) By similarity | ||||||
| Metal binding | 121 | 1 | Iron-sulfur 2 (4Fe-4S) By similarity | ||||||
| Metal binding | 150 | 1 | Iron-sulfur 2 (4Fe-4S) By similarity | ||||||
| Metal binding | 153 | 1 | Iron-sulfur 2 (4Fe-4S) By similarity | ||||||
| Metal binding | 156 | 1 | Iron-sulfur 2 (4Fe-4S) By similarity | ||||||
| Metal binding | 160 | 1 | Iron-sulfur 1 (4Fe-4S) By similarity | ||||||
Natural variations | |||||||||
| Natural variant | 79 | 1 | P → L in LS. Ref.6 | VAR_019538 | |||||
| Natural variant | 102 | 1 | R → H in LS. Ref.6 | VAR_019539 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I." Procaccio V., Depetris D., Soularue P., Mattei M.-G., Lunardi J., Issartel J.-P. Biochim. Biophys. Acta 1351:37-41(1997) [PubMed: 9116042] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]. |
| [2] | "Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase." de Sury R., Martinez P., Procaccio V., Lunardi J., Issartel J.-P. Gene 215:1-10(1998) [PubMed: 9666055] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]. |
| [3] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Uterus. |
| [4] | "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]. |
| [5] | Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY. |
| [6] | "The first nuclear-encoded complex I mutation in a patient with Leigh syndrome." Loeffen J., Smeitink J., Triepels R., Smeets R., Schuelke M., Sengers R., Trijbels F., Hamel B.C.J., Mullaart R., van den Heuvel L. Am. J. Hum. Genet. 63:1598-1608(1998) [PubMed: 9837812] [Abstract] Cited for: VARIANTS LS LEU-79 AND HIS-102. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| U65579 mRNA. Translation: AAB51776.1. AF038406 Genomic DNA. Translation: AAC34273.1. AK314546 mRNA. Translation: BAG37133.1. BC119754 mRNA. Translation: AAI19755.1. | |
| IPI | IPI00010845. |
| RefSeq | NP_002487.1. |
| UniGene | Hs.495985 Hs.90443 |
3D structure databases | |
| HSSP | HSSP built from PDB template 2FDN based on UniProtKB P00198. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O00217. 1 interaction. |
PTM databases | |
| PhosphoSite | O00217. |
2-D gel databases | |
| OGP | O00217. |
Proteomic databases | |
| PeptideAtlas | O00217. |
| PRIDE | O00217. |
Genome annotation databases | |
| Ensembl | ENSG00000110717. Homo sapiens. [Contig view] |
| GeneID | 4728. |
| KEGG | hsa:4728. |
| NMPDR | fig|9606.3.peg.6162. |
Organism-specific databases | |
| GeneCards | GC11P067554. |
| H-InvDB | HIX0023060. |
| HGNC | HGNC:7715. NDUFS8. |
| HPA | HPA018524. |
| MIM | 256000. phenotype. 602141. gene. |
| Orphanet | 506. Leigh syndrome. 2609. NADH-CoQ reductase deficiency. |
| PharmGKB | PA31525. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | O00217. |
| OMA | O00217. QADFLYR. |
Enzyme and pathway databases | |
| BRENDA | 1.6.5.3. 247. 1.6.99.3. 247. |
| Reactome | REACT_6305. Electron Transport Chain. |
Gene expression databases | |
| ArrayExpress | O00217. |
| Bgee | O00217. |
| CleanEx | HS_NDUFS8. |
| GermOnline | ENSG00000110717. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR017896. 4Fe4S_Fe-S-bd. IPR001450. 4Fe4S_Fe_S_bd_subgr. IPR017900. 4Fe4S_Fe_S_CS. IPR010226. NADH_quinone_OxRdtase_chainI. [Graphical view] |
| Pfam | PF00037. Fer4. 2 hits. [Graphical view] |
| TIGRFAMs | TIGR01971. NuoI. 1 hit. |
| PROSITE | PS00198. 4FE4S_FER_1. 2 hits. PS51379. 4FE4S_FER_2. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00157. NADH. |
| NextBio | 18230. |
| SOURCE | Search... |
Entry information
| Entry name | NDUS8_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O00217 Secondary accession number(s): B2RB86, Q0VDA8 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: 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


