Reviewed,
UniProtKB/Swiss-Prot O75251 (NDUS7_HUMAN)
Last modified
November 25, 2008.
Version 86.
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 7, mitochondrial EC=1.6.5.3 EC=1.6.99.3 Alternative name(s): NADH-ubiquinone oxidoreductase 20 kDa subunit Complex I-20kD Short name=CI-20kD PSST 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 | 213 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 Potential. |
| Subunit structure | Complex I is composed of 45 different subunits This is a component of the iron-sulfur (IP) fragment of the enzyme. |
| Subcellular location | |
| Involvement in disease | Defects in NDUFS7 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. Defects in NDUFS7 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 20 kDa subunit family. |
| Sequence caution | The sequence AAC27669.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Transit peptide | 1 – 38 | 38 | Mitochondrion By similarity | ||||||
| Chain | 39 – 213 | 175 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial | PRO_0000020027 | |||||
Sites | |||||||||
| Metal binding | 88 | 1 | Iron-sulfur (4Fe-4S) Potential | ||||||
| Metal binding | 89 | 1 | Iron-sulfur (4Fe-4S) Potential | ||||||
| Metal binding | 153 | 1 | Iron-sulfur (4Fe-4S) Potential | ||||||
| Metal binding | 183 | 1 | Iron-sulfur (4Fe-4S) Potential | ||||||
Natural variations | |||||||||
| Natural variant | 23 | 1 | P → L: dbSNP rs1142530. | VAR_014482 | |||||
| Natural variant | 122 | 1 | V → M in complex I deficiency and LS. | VAR_008848 | |||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| AC005329 Genomic DNA. Translation: AAC27669.1. Sequence problems. BC001715 mRNA. Translation: AAH01715.2. BC005954 mRNA. Translation: AAH05954.1. BC111517 mRNA. Translation: AAI11518.1. | |
| RefSeq | NP_077718.3. |
| UniGene | Hs.211914 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O75251. |
Genome annotation databases | |
| Ensembl | ENSG00000115286. Homo sapiens. [Contig view] |
| GeneID | 374291. |
| KEGG | hsa:374291. |
Organism-specific databases | |
| H-InvDB | HIX0014582. HIX0092829. |
| HGNC | HGNC:7714. NDUFS7. |
| MIM | 252010. phenotype. 256000. phenotype. 601825. gene. |
| Orphanet | 506. Leigh syndrome. 2609. NADH-CoQ reductase deficiency. |
| PharmGKB | PA31524. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOVERGEN | O75251. |
Enzyme and pathway databases | |
| Reactome | REACT_6305. Electron Transport Chain. |
Gene expression databases | |
| ArrayExpress | O75251. |
| CleanEx | HS_NDUFS7. |
| GermOnline | ENSG00000115286. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR006138. NADH_DHase_20kDa_su. IPR014406. NiFe_hyd_3_ssu/Q_oxred_NuoB. IPR006137. OxRdtase_q6. [Graphical view] |
| PANTHER | PTHR11995:SF2. NADH_DH_20kDa. 1 hit. PTHR11995. NiFe_hyd_3_ssu/Q_oxred_NuoB. 1 hit. |
| Pfam | PF01058. Oxidored_q6. 1 hit. [Graphical view] |
| TIGRFAMs | TIGR01957. nuoB_fam. 1 hit. |
| PROSITE | PS01150. COMPLEX1_20K. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| DrugBank | DB00157. NADH. |
| NextBio | 100146. |
| SOURCE | Search... |
Entry information
| Entry name | NDUS7_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O75251 Secondary accession number(s): Q2T9H7, Q9BV17 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: 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


