P19404 · NDUV2_HUMAN
- ProteinNADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
- GeneNDUFV2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids249 (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 (Probable). Parts of the peripheral arm of the enzyme, where the electrons from NADH are accepted by flavin mononucleotide (FMN) and then passed along a chain of iron-sulfur clusters by electron tunnelling to the final acceptor ubiquinone (Probable). Contains one iron-sulfur cluster (Probable).
Catalytic activity
- a ubiquinone + 5 H+(in) + NADH = a ubiquinol + 4 H+(out) + NAD+This reaction proceeds in the forward direction.
a ubiquinone RHEA-COMP:9565 + 5 H+ (in)CHEBI:15378+ CHEBI:57945 = a ubiquinol RHEA-COMP:9566 + 4 H+ (out)CHEBI:15378+ CHEBI:57540
Cofactor
Note: Binds 1 [2Fe-2S] cluster.
Features
Showing features for binding site.
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrial respiratory chain complex I | |
Cellular Component | mitochondrion | |
Cellular Component | respiratory chain complex I | |
Molecular Function | 2 iron, 2 sulfur cluster binding | |
Molecular Function | electron transfer activity | |
Molecular Function | metal ion binding | |
Molecular Function | NADH dehydrogenase (ubiquinone) activity | |
Biological Process | aerobic respiration | |
Biological Process | cardiac muscle tissue development | |
Biological Process | mitochondrial electron transport, NADH to ubiquinone | |
Biological Process | nervous system development | |
Biological Process | proton motive force-driven mitochondrial ATP synthesis |
Keywords
- Molecular function
- Biological process
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameNADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
- EC number
- Short namesNDUFV2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP19404
- 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 7 (MC1DN7)
- 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. MC1DN7 transmission pattern is consistent with autosomal recessive inheritance.
- See alsoMIM:618229
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_016167 | 29 | in dbSNP:rs906807 | |||
Sequence: V → A |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 330 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 | 1-32 | Mitochondrion | ||||
Sequence: MFFSAALRARAAGLTAHWGRHVRNLHKTVMQN | ||||||
Chain | PRO_0000020003 | 33-249 | NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial | |||
Sequence: GAGGALFVHRDTPENNPDTPFDFTPENYKRIEAIVKNYPEGHKAAAVLPVLDLAQRQNGWLPISAMNKVAEVLQVPPMRVYEVATFYTMYNRKPVGKYHIQVCTTTPCMLRNSDSILEAIQKKLGIKVGETTPDKLFTLIEVECLGACVNAPMVQINDNYYEDLTAKDIEEIIDELKAGKIPKPGPRSGRFSCEPAGGLTSLTEPPKGPGFGVQAGL | ||||||
Modified residue | 61 | N6-acetyllysine | ||||
Sequence: K | ||||||
Modified residue | 193 | Phosphotyrosine; by SRC | ||||
Sequence: Y |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme.
Binary interactions
Protein-protein interaction databases
Chemistry
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 213-249 | Disordered | ||||
Sequence: IPKPGPRSGRFSCEPAGGLTSLTEPPKGPGFGVQAGL |
Sequence similarities
Belongs to the complex I 24 kDa subunit family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
- Length249
- Mass (Da)27,392
- Last updated2002-05-02 v2
- ChecksumAAF46ABB0908B177
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
M22538 EMBL· GenBank· DDBJ | AAA75390.1 EMBL· GenBank· DDBJ | mRNA | ||
BC001632 EMBL· GenBank· DDBJ | AAH01632.1 EMBL· GenBank· DDBJ | mRNA | ||
BC017487 EMBL· GenBank· DDBJ | AAH17487.1 EMBL· GenBank· DDBJ | mRNA |