O95299 · NDUAA_HUMAN
- ProteinNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial
- GeneNDUFA10
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids355 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
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.
Cofactor
Note: Binds 1 FAD per subunit.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytoplasm | |
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrial matrix | |
Cellular Component | mitochondrial respiratory chain complex I | |
Cellular Component | mitochondrion | |
Cellular Component | respiratory chain complex I | |
Molecular Function | NADH dehydrogenase (ubiquinone) activity | |
Biological Process | aerobic respiration | |
Biological Process | mitochondrial electron transport, NADH to ubiquinone | |
Biological Process | mitochondrial respiratory chain complex I assembly | |
Biological Process | proton motive force-driven mitochondrial ATP synthesis |
Keywords
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO95299
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 22 (MC1DN22)
- Note
- DescriptionA form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN22 transmission pattern is consistent with autosomal recessive inheritance.
- See alsoMIM:618243
Natural variants in MC1DN22
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_078937 | 142 | Q>R | in MC1DN22; dbSNP:rs387906873 | |
VAR_081458 | 294 | L>P | in MC1DN22; uncertain significance; dbSNP:rs1057519414 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_034149 | 2 | in dbSNP:rs11541494 | |||
Sequence: A → G | ||||||
Natural variant | VAR_078937 | 142 | in MC1DN22; dbSNP:rs387906873 | |||
Sequence: Q → R | ||||||
Natural variant | VAR_081458 | 294 | in MC1DN22; uncertain significance; dbSNP:rs1057519414 | |||
Sequence: L → P |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 422 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Chemistry
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain, modified residue.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transit peptide | 1-35 | Mitochondrion | ||||
Sequence: MALRLLKLAATSASARVVAAGAQRVRGIHSSVQCK | ||||||
Chain | PRO_0000019988 | 36-355 | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial | |||
Sequence: LRYGMWHFLLGDKASKRLTERSRVITVDGNICTGKGKLAKEIAEKLGFKHFPEAGIHYPDSTTGDGKPLATDYNGNCSLEKFYDDPRSNDGNSYRLQSWLYSSRLLQYSDALEHLLTTGQGVVLERSIFSDFVFLEAMYNQGFIRKQCVDHYNEVKSVTICDYLPPHLVIYIDVPVPEVQRRIQKKGDPHEMKITSAYLQDIENAYKKTFLPEMSEKCEVLQYSAREAQDSKKVVEDIEYLKFDKGPWLKQDNRTLYHLRLLVQDKFEVLNYTSIPIFLPEVTIGAHQTDRVLHQFRELPGRKYSPGYNTEVGDKWIWLK | ||||||
Modified residue | 250 | Phosphoserine; by PINK1 | ||||
Sequence: S | ||||||
Modified residue | 285 | N6-succinyllysine | ||||
Sequence: K |
Post-translational modification
Phosphorylation at Ser-250 by PINK1 is required for the binding and/or reduction of the complex I substrate ubiquinone.
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Complex I is composed of 45 different subunits. This a component of the hydrophobic protein fraction.
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Sequence & Isoform
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 2 isoforms produced by Alternative splicing.
O95299-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length355
- Mass (Da)40,751
- Last updated1999-05-01 v1
- ChecksumB5C27BC150A3E691
O95299-2
- Name2
Computationally mapped potential isoform sequences
There are 27 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
C9J6X0 | C9J6X0_HUMAN | NDUFA10 | 244 | ||
E7ESZ7 | E7ESZ7_HUMAN | NDUFA10 | 390 | ||
F8WEH0 | F8WEH0_HUMAN | NDUFA10 | 87 | ||
H7C2W5 | H7C2W5_HUMAN | NDUFA10 | 129 | ||
H7C2X4 | H7C2X4_HUMAN | NDUFA10 | 375 | ||
H7C1Y7 | H7C1Y7_HUMAN | NDUFA10 | 362 | ||
Q8N1B9 | Q8N1B9_HUMAN | NDUFA10 | 201 | ||
A0A7I2YQU0 | A0A7I2YQU0_HUMAN | NDUFA10 | 321 | ||
A0A087WXC5 | A0A087WXC5_HUMAN | NDUFA10 | 371 | ||
A0A7I2V2F6 | A0A7I2V2F6_HUMAN | NDUFA10 | 236 | ||
A0A7I2V2I6 | A0A7I2V2I6_HUMAN | NDUFA10 | 202 | ||
A0A7I2V2J5 | A0A7I2V2J5_HUMAN | NDUFA10 | 98 | ||
A0A7I2V2Q2 | A0A7I2V2Q2_HUMAN | NDUFA10 | 94 | ||
A0A7I2V327 | A0A7I2V327_HUMAN | NDUFA10 | 393 | ||
A0A7I2V2N6 | A0A7I2V2N6_HUMAN | NDUFA10 | 384 | ||
A0A7I2V2W9 | A0A7I2V2W9_HUMAN | NDUFA10 | 335 | ||
A0A7I2V2X3 | A0A7I2V2X3_HUMAN | NDUFA10 | 344 | ||
A0A7I2V3D4 | A0A7I2V3D4_HUMAN | NDUFA10 | 203 | ||
A0A7I2V3H5 | A0A7I2V3H5_HUMAN | NDUFA10 | 297 | ||
A0A7I2V438 | A0A7I2V438_HUMAN | NDUFA10 | 317 | ||
A0A7I2V458 | A0A7I2V458_HUMAN | NDUFA10 | 339 | ||
A0A7I2V419 | A0A7I2V419_HUMAN | NDUFA10 | 345 | ||
A0A7I2V4N8 | A0A7I2V4N8_HUMAN | NDUFA10 | 388 | ||
A0A7I2V594 | A0A7I2V594_HUMAN | NDUFA10 | 354 | ||
A0A7I2V5B2 | A0A7I2V5B2_HUMAN | NDUFA10 | 361 | ||
A0A7I2V5L0 | A0A7I2V5L0_HUMAN | NDUFA10 | 297 | ||
A0A7I2V5U7 | A0A7I2V5U7_HUMAN | NDUFA10 | 358 |
Features
Showing features for alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_056417 | 183 | in isoform 2 | |||
Sequence: C → CESALQTHFWTGVAGASGKLESGSSEEVLLINERGGRSKPG | ||||||
Alternative sequence | VSP_056418 | 214-223 | in isoform 2 | |||
Sequence: Missing | ||||||
Alternative sequence | VSP_056419 | 334-355 | in isoform 2 | |||
Sequence: LPGRKYSPGYNTEVGDKWIWLK → RLDWTVCFGEESTEVKHQGHLLSVQPGTVALTVGSWLRSCLLGLHWKLLFLFPESPMHTTAFMFLC |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF087661 EMBL· GenBank· DDBJ | AAD09755.1 EMBL· GenBank· DDBJ | mRNA | ||
AF453834 EMBL· GenBank· DDBJ | AAL50984.1 EMBL· GenBank· DDBJ | mRNA | ||
AC013469 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC114750 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC233275 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC003417 EMBL· GenBank· DDBJ | AAH03417.1 EMBL· GenBank· DDBJ | mRNA |