NDUFA10 - NADH:ubiquinone oxidoreductase subunit A10 Gene
Also Known as CI-42k; CI-42KD; MC1DN22
Species: Homo sapiens
About NDUFA10
This gene has 46 transcripts (splice variants), 211 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 10.9), kidney (RPKM 7.4) and 25 other tissues.
Summary
The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]
NDUFA10 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| NM_001322019.2 | NP_001308948.1 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 2 precursor |
| NM_001322020.2 | NP_001308949.1 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 3 |
| NM_001410987.1 | NP_001397916.1 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 4 |
| NM_004544.4 | NP_004535.1 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 1 precursor |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in mitochondrial respiratory chain complex I assembly |
IMP
IMP: Inferred from mutant phenotype
|
27626371 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrial inner membrane |
IDA
IDA: Inferred from direct assay
|
28844695 | GOA |
| part of respiratory chain complex I |
IDA
IDA: Inferred from direct assay
|
12611891 | GOA |
NDUFA10 Protein Structure
dNK: Deoxynucleoside kinase (138 - 286)
- 0
- 100
- 200
- 300
- 355 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
|
| Leigh Syndrome With Leukodystrophy |
|
|
| Leigh Syndrome |
|
|
| Leukodystrophy |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Myopathy |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | NDUFA10 | MGD | MGI:1914523 |
| Bos taurus | NDUFA10 | VGNC | VGNC:59187 |
| Macaca mulatta | NDUFA10 | VGNC | VGNC:75153 |
| Felis catus | NDUFA10 | VGNC | VGNC:107588 |
| Canis familiaris | NDUFA10 | VGNC | VGNC:54974 |
| Rattus norvegicus | NDUFA10 | RGD | RGD:727968 |
| Others | NDUFA10 | NCBI |