O75489 · NDUS3_HUMAN
- ProteinNADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
- GeneNDUFS3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids264 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:14729820, PubMed:30140060).
Essential for the catalytic activity and assembly of complex I (PubMed:14729820, PubMed:24028823, PubMed:30140060).
Essential for the catalytic activity and assembly of complex I (PubMed:14729820, PubMed:24028823, PubMed:30140060).
Catalytic activity
- a ubiquinone + 5 H+(in) + NADH = a ubiquinol + 4 H+(out) + NAD+
a ubiquinone RHEA-COMP:9565 + 5 H+ (in)CHEBI:15378+ CHEBI:57945 = a ubiquinol RHEA-COMP:9566 + 4 H+ (out)CHEBI:15378+ CHEBI:57540
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrial matrix | |
Cellular Component | mitochondrial membrane | |
Cellular Component | mitochondrial respiratory chain complex I | |
Cellular Component | mitochondrion | |
Cellular Component | nuclear body | |
Cellular Component | respiratory chain complex I | |
Molecular Function | electron transfer activity | |
Molecular Function | NADH dehydrogenase (ubiquinone) activity | |
Molecular Function | NADH dehydrogenase 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 | |
Biological Process | reactive oxygen species metabolic process | |
Biological Process | substantia nigra development |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameNADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
- EC number
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionO75489
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Mitochondrion inner membrane ; Peripheral membrane protein
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8)
- 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. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance.
- See alsoMIM:618230
Natural variants in MC1DN8
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_081411 | 140 | R>W | in MC1DN8; uncertain significance; decrease in enzyme activity; impaired assembly of complex I; dbSNP:rs142248674 | |
VAR_081412 | 145 | T>I | in MC1DN8; decrease in enzyme activity; increased protein instability and aggregation; compound heterozygous with W-199; dbSNP:rs28939714 | |
VAR_081413 | 199 | R>W | in MC1DN8; decrease in enzyme activity; impaired assembly of complex I; increased protein instability and aggregation; compound heterozygous with I-145; dbSNP:rs104894270 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_081411 | 140 | in MC1DN8; uncertain significance; decrease in enzyme activity; impaired assembly of complex I; dbSNP:rs142248674 | |||
Sequence: R → W | ||||||
Natural variant | VAR_081412 | 145 | in MC1DN8; decrease in enzyme activity; increased protein instability and aggregation; compound heterozygous with W-199; dbSNP:rs28939714 | |||
Sequence: T → I | ||||||
Natural variant | VAR_081413 | 199 | in MC1DN8; decrease in enzyme activity; impaired assembly of complex I; increased protein instability and aggregation; compound heterozygous with I-145; dbSNP:rs104894270 | |||
Sequence: R → W | ||||||
Natural variant | VAR_012036 | 249 | in dbSNP:rs9600 | |||
Sequence: P → Q |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 328 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 (large scale data).
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Transit peptide | 1-36 | UniProt | Mitochondrion | ||||
Sequence: MAAAAVARLWWRGILGASALTRGTGRPSVLLLPVRR | |||||||
Chain | PRO_0000019998 | 37-264 | UniProt | NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial | |||
Sequence: ESAGADTRPTVRPRNDVAHKQLSAFGEYVAEILPKYVQQVQVSCFNELEVCIHPDGVIPVLTFLRDHTNAQFKSLVDLTAVDVPTRQNRFEIVYNLLSLRFNSRIRVKTYTDELTPIESAVSVFKAANWYEREIWDMFGVFFANHPDLRRILTDYGFEGHPFRKDFPLSGYVELRYDDEVKRVVAEPVELAQEFRKFDLNSPWEAFPVYRQPPESLKLEAGDKKPDAK | |||||||
Modified residue (large scale data) | 43 | PRIDE | Phosphothreonine | ||||
Sequence: T |
Proteomic databases
2D gel databases
PTM databases
Expression
Interaction
Subunit
Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (PubMed:12611891).
Interacts with NDUFAF3 (PubMed:19463981).
Interacts with RAB5IF (PubMed:31536960).
Found in subcomplexes containing subunits NDUFS2, MT-ND1 and NDUFA13 (PubMed:17209039, PubMed:18826940).
Interacts with NDUFAF3 (PubMed:19463981).
Interacts with RAB5IF (PubMed:31536960).
Found in subcomplexes containing subunits NDUFS2, MT-ND1 and NDUFA13 (PubMed:17209039, PubMed:18826940).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | O75489 | ARL6IP4 Q66PJ3-4 | 3 | EBI-1224896, EBI-5280499 | |
BINARY | O75489 | KRBOX4 Q5JUW0-3 | 3 | EBI-1224896, EBI-12893625 | |
BINARY | O75489 | NDUFA5 Q16718 | 13 | EBI-1224896, EBI-746417 | |
BINARY | O75489 | NDUFA8 P51970 | 5 | EBI-1224896, EBI-1237250 | |
BINARY | O75489 | NDUFS2 O75306 | 12 | EBI-1224896, EBI-1224806 | |
BINARY | O75489 | TMEM11 P17152 | 3 | EBI-1224896, EBI-723946 | |
BINARY | O75489 | TMT1A Q9H8H3 | 3 | EBI-1224896, EBI-1390168 |
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.
O75489-1
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
- Length264
- Mass (Da)30,242
- Last updated1998-11-01 v1
- ChecksumC058D62779BEF17B
O75489-2
- Name2
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Features
Showing features for sequence conflict, alternative sequence.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF067139 EMBL· GenBank· DDBJ | AAC27451.1 EMBL· GenBank· DDBJ | mRNA | ||
AF200954 EMBL· GenBank· DDBJ | AAG17541.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF100743 EMBL· GenBank· DDBJ | AAD40386.1 EMBL· GenBank· DDBJ | mRNA | ||
AK294167 EMBL· GenBank· DDBJ | BAG57489.1 EMBL· GenBank· DDBJ | mRNA | ||
AK313802 EMBL· GenBank· DDBJ | BAG36538.1 EMBL· GenBank· DDBJ | mRNA | ||
AC090559 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
AC104942 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471064 EMBL· GenBank· DDBJ | EAW67895.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC000617 EMBL· GenBank· DDBJ | AAH00617.1 EMBL· GenBank· DDBJ | mRNA |