Reviewed,
UniProtKB/Swiss-Prot O75306 (NDUS2_HUMAN)
Last modified
November 25, 2008.
Version 83.
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 2, mitochondrial EC=1.6.5.3 EC=1.6.99.3 Alternative name(s): NADH-ubiquinone oxidoreductase 49 kDa subunit Complex I-49kD Short name=CI-49kD | ||
| 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 | 463 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. |
| Catalytic activity | NADH + ubiquinone = NAD(+) + ubiquinol. NADH + acceptor = NAD(+) + reduced acceptor. |
| Cofactor | Binds 1 4Fe-4S cluster. |
| Subunit structure | Complex I is composed of 45 different subunits. 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 NDUFS2 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. |
| Sequence similarities | Belongs to the complex I 49 kDa subunit family. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 33 | 33 | Mitochondrion By similarity | ||||||
| Chain | 34 – 463 | 430 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial | PRO_0000019981 | |||||
Sites | |||||||||
| Metal binding | 326 | 1 | Iron-sulfur (4Fe-4S) Potential | ||||||
| Metal binding | 332 | 1 | Iron-sulfur (4Fe-4S) Potential | ||||||
| Metal binding | 347 | 1 | Iron-sulfur (4Fe-4S) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 20 | 1 | P → T: dbSNP rs11538340. | VAR_034150 | |||||
| Natural variant | 228 | 1 | R → Q in complex I deficiency. | VAR_019535 | |||||
| Natural variant | 229 | 1 | P → A: dbSNP rs16827493. | VAR_034151 | |||||
| Natural variant | 229 | 1 | P → Q in complex I deficiency. | VAR_019536 | |||||
| Natural variant | 352 | 1 | P → A: dbSNP rs11576415. | VAR_034152 | |||||
| Natural variant | 413 | 1 | S → P in complex I deficiency. | VAR_019537 | |||||
Experimental info | |||||||||
| Sequence conflict | 24 | 1 | V → G in AAC34362. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed." Loeffen J., van den Heuvel L., Smeets R., Triepels R., Sengers R., Trijbels F., Smeitink J. Biochem. Biophys. Res. Commun. 247:751-758(1998) [PubMed: 9647766] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [2] | "Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory complex I and immunodetection of the mature protein in mitochondria." Procaccio V., de Sury R., Martinez P., Depetris D., Rabilloud T., Soularue P., Lunardi J., Issartel J.-P. Mamm. Genome 9:482-484(1998) [PubMed: 9585441] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. |
| [3] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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: Muscle and Placenta. |
| [6] | "Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy." Loeffen J., Elpeleg O., Smeitink J., Smeets R., Stoeckler-Ipsiroglu S., Mandel H., Sengers R., Trijbels F., van den Heuvel L. Ann. Neurol. 49:195-201(2001) [PubMed: 11220739] [Abstract] Cited for: VARIANTS COMPLEX I DEFICIENCY GLN-228; GLN-229 AND PRO-413. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF050640 mRNA. Translation: AAC27453.1. AF013160 mRNA. Translation: AAC34362.1. AL590714 Genomic DNA. Translation: CAH72148.1. CH471121 Genomic DNA. Translation: EAW52625.1. BC000170 mRNA. Translation: AAH00170.1. BC001456 mRNA. Translation: AAH01456.1. BC008868 mRNA. Translation: AAH08868.1. | |
| PIR | JE0193. |
| RefSeq | NP_004541.1. |
| UniGene | Hs.173611 |
3D structure databases | |
| ModBase | Search... |
PTM databases | |
| PhosphoSite | O75306. |
Proteomic databases | |
| PeptideAtlas | O75306. |
Genome annotation databases | |
| Ensembl | ENSG00000158864. Homo sapiens. [Contig view] |
| GeneID | 4720. |
| KEGG | hsa:4720. |
Organism-specific databases | |
| HGNC | HGNC:7708. NDUFS2. |
| MIM | 252010. phenotype. 602985. gene. |
| Orphanet | 2609. NADH-CoQ reductase deficiency. |
| PharmGKB | PA31519. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | O75306. |
Enzyme and pathway databases | |
| Reactome | REACT_6305. Electron Transport Chain. |
Gene expression databases | |
| ArrayExpress | O75306. |
| CleanEx | HS_NDUFS2. |
| GermOnline | ENSG00000158864. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR014029. NADH-UbQ_OxRdtase_49kDa_CS. IPR010219. NADH_DH_1_dsu. IPR001135. NADH_UbQ_OxRdtase_49kDa. [Graphical view] |
| Pfam | PF00346. Complex1_49kDa. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR01962. NuoD. 1 hit. |
| PROSITE | PS00535. COMPLEX1_49K. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00157. NADH. |
| NextBio | 18206. |
| SOURCE | Search... |
Entry information
| Entry name | NDUS2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75306 Secondary accession number(s): Q5VTW0, Q969P3, Q9UEV3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: 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


