P49821 · NDUV1_HUMAN
- ProteinNADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
- GeneNDUFV1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids464 (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:28844695).
Part 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 (PubMed:28844695).
Contains FMN, which is the initial electron acceptor as well as one iron-sulfur cluster (PubMed:28844695).
Part 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 (PubMed:28844695).
Contains FMN, which is the initial electron acceptor as well as one iron-sulfur cluster (PubMed:28844695).
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
Protein has several cofactor binding sites:
Note: Binds 1 FMN.
Note: Binds 1 [4Fe-4S] cluster.
Features
Showing features for binding site.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Binding site | 87-96 | NADH (UniProtKB | ChEBI) | ||||
Sequence: GRGGAGFPTG | ||||||
Binding site | 199-247 | FMN (UniProtKB | ChEBI) | ||||
Sequence: RGAGAYICGEETALIESIEGKQGKPRLKPPFPADVGVFGCPTTVANVET | ||||||
Binding site | 379 | [4Fe-4S] cluster (UniProtKB | ChEBI) | ||||
Sequence: C | ||||||
Binding site | 382 | [4Fe-4S] cluster (UniProtKB | ChEBI) | ||||
Sequence: C | ||||||
Binding site | 385 | [4Fe-4S] cluster (UniProtKB | ChEBI) | ||||
Sequence: C | ||||||
Binding site | 425 | [4Fe-4S] cluster (UniProtKB | ChEBI) | ||||
Sequence: C |
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrial respiratory chain complex I | |
Cellular Component | mitochondrion | |
Cellular Component | respiratory chain complex I | |
Molecular Function | 4 iron, 4 sulfur cluster binding | |
Molecular Function | FMN binding | |
Molecular Function | metal ion binding | |
Molecular Function | NAD binding | |
Molecular Function | NADH dehydrogenase (ubiquinone) activity | |
Biological Process | aerobic respiration | |
Biological Process | mitochondrial ATP synthesis coupled electron transport | |
Biological Process | mitochondrial electron transport, NADH to ubiquinone | |
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 1, mitochondrial
- EC number
- Short namesNDUFV1
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP49821
- 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 4 (MC1DN4)
- 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. MC1DN4 transmission pattern is consistent with autosomal recessive inheritance.
- See alsoMIM:618225
Natural variants in MC1DN4
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_019534 | 214 | E>K | in MC1DN4; dbSNP:rs121913661 | |
VAR_008846 | 341 | A>V | in MC1DN4; dbSNP:rs121913660 | |
VAR_008847 | 423 | T>M | in MC1DN4; dbSNP:rs121913659 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_014480 | 76 | in dbSNP:rs1800670 | |||
Sequence: I → V | ||||||
Natural variant | VAR_019534 | 214 | in MC1DN4; dbSNP:rs121913661 | |||
Sequence: E → K | ||||||
Natural variant | VAR_014481 | 277 | in dbSNP:rs1043770 | |||
Sequence: N → Y | ||||||
Natural variant | VAR_008846 | 341 | in MC1DN4; dbSNP:rs121913660 | |||
Sequence: A → V | ||||||
Natural variant | VAR_008847 | 423 | in MC1DN4; dbSNP:rs121913659 | |||
Sequence: T → M |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 580 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), modified residue.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Transit peptide | 1-20 | UniProt | Mitochondrion | ||||
Sequence: MLATRRLLGWSLPARVSVRF | |||||||
Chain | PRO_0000019976 | 21-464 | UniProt | NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial | |||
Sequence: SGDTTAPKKTSFGSLKDEDRIFTNLYGRHDWRLKGSLSRGDWYKTKEILLKGPDWILGEIKTSGLRGRGGAGFPTGLKWSFMNKPSDGRPKYLVVNADEGEPGTCKDREILRHDPHKLLEGCLVGGRAMGARAAYIYIRGEFYNEASNLQVAIREAYEAGLIGKNACGSGYDFDVFVVRGAGAYICGEETALIESIEGKQGKPRLKPPFPADVGVFGCPTTVANVETVAVSPTICRRGGTWFAGFGRERNSGTKLFNISGHVNHPCTVEEEMSVPLKELIEKHAGGVTGGWDNLLAVIPGGSSTPLIPKSVCETVLMDFDALVQAQTGLGTAAVIVMDRSTDIVKAIARLIEFYKHESCGQCTPCREGVDWMNKVMARFVRGDARPAEIDSLWEISKQIEGHTICALGDGAAWPVQGLIRHFRPELEERMQRFAQQHQARQAAS | |||||||
Modified residue (large scale data) | 34 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue | 81 | UniProt | N6-acetyllysine; alternate | ||||
Sequence: K | |||||||
Modified residue | 81 | UniProt | N6-succinyllysine; alternate | ||||
Sequence: K | |||||||
Modified residue | 104 | UniProt | N6-acetyllysine | ||||
Sequence: K | |||||||
Modified residue | 257 | UniProt | Omega-N-methylarginine | ||||
Sequence: R | |||||||
Modified residue | 375 | UniProt | N6-acetyllysine | ||||
Sequence: K |
Keywords
- PTM
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, PubMed:28844695).
This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme (PubMed:12611891).
Interacts with RAB5IF (PubMed:31536960).
This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme (PubMed:12611891).
Interacts with RAB5IF (PubMed:31536960).
Binary interactions
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.
P49821-1
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
- Length464
- Mass (Da)50,817
- Last updated2002-05-02 v4
- Checksum8C261EA3B0267256
P49821-2
- Name2
- Differences from canonical
- 16-24: Missing
Computationally mapped potential isoform sequences
There are 12 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0YE81 | H0YE81_HUMAN | NDUFV1 | 133 | ||
H0YD04 | H0YD04_HUMAN | NDUFV1 | 127 | ||
B4DE93 | B4DE93_HUMAN | NDUFV1 | 363 | ||
G3V0I5 | G3V0I5_HUMAN | NDUFV1 | 457 | ||
E9PPD6 | E9PPD6_HUMAN | NDUFV1 | 52 | ||
E9PPE0 | E9PPE0_HUMAN | NDUFV1 | 43 | ||
E9PPR0 | E9PPR0_HUMAN | NDUFV1 | 144 | ||
E9PPS5 | E9PPS5_HUMAN | NDUFV1 | 75 | ||
E9PQP1 | E9PQP1_HUMAN | NDUFV1 | 178 | ||
E9PMX3 | E9PMX3_HUMAN | NDUFV1 | 178 | ||
E9PLC6 | E9PLC6_HUMAN | NDUFV1 | 136 | ||
E9PJL9 | E9PJL9_HUMAN | NDUFV1 | 95 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_003730 | 16-24 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 80 | in Ref. 7; AAB24883 | ||||
Sequence: I → V | ||||||
Sequence conflict | 150 | in Ref. 8; AAB29698 | ||||
Sequence: G → A | ||||||
Sequence conflict | 306 | in Ref. 1; CAA76757 | ||||
Sequence: G → F | ||||||
Sequence conflict | 313 | in Ref. 1; CAA76757 | ||||
Sequence: N → Y |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
Y17379 EMBL· GenBank· DDBJ | CAA76757.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y17380 EMBL· GenBank· DDBJ | CAA76757.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y17381 EMBL· GenBank· DDBJ | CAA76757.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y17382 EMBL· GenBank· DDBJ | CAA76757.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
Y17383 EMBL· GenBank· DDBJ | CAA76757.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF053069 EMBL· GenBank· DDBJ | AAC39750.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF053070 EMBL· GenBank· DDBJ | AAC39722.1 EMBL· GenBank· DDBJ | mRNA | ||
AF092131 EMBL· GenBank· DDBJ | AAD40373.1 EMBL· GenBank· DDBJ | mRNA | ||
CR456739 EMBL· GenBank· DDBJ | CAG33020.1 EMBL· GenBank· DDBJ | mRNA | ||
CH471076 EMBL· GenBank· DDBJ | EAW74655.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC008146 EMBL· GenBank· DDBJ | AAH08146.1 EMBL· GenBank· DDBJ | mRNA | ||
BC015645 EMBL· GenBank· DDBJ | AAH15645.1 EMBL· GenBank· DDBJ | mRNA | ||
AH004147 EMBL· GenBank· DDBJ | AAB24883.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
S67973 EMBL· GenBank· DDBJ | AAB29698.2 EMBL· GenBank· DDBJ | mRNA | Sequence problems. |