NDUFV1

Protein identityUniProt · HPA

UniProt accession

P49821

Gene

NDUFV1

Ensembl

ENSG00000167792

Chromosome

11

Canonical length

464 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Mitochondria,Cytosol

OverviewNCBI Gene

The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

464 residues, UniProt reviewed canonical sequence.

>P49821|NDUFV1
     1  MLATRRLLGW SLPARVSVRF SGDTTAPKKT SFGSLKDEDR IFTNLYGRHD WRLKGSLSRG
    61  DWYKTKEILL KGPDWILGEI KTSGLRGRGG AGFPTGLKWS FMNKPSDGRP KYLVVNADEG
   121  EPGTCKDREI LRHDPHKLLE GCLVGGRAMG ARAAYIYIRG EFYNEASNLQ VAIREAYEAG
   181  LIGKNACGSG YDFDVFVVRG AGAYICGEET ALIESIEGKQ GKPRLKPPFP ADVGVFGCPT
   241  TVANVETVAV SPTICRRGGT WFAGFGRERN SGTKLFNISG HVNHPCTVEE EMSVPLKELI
   301  EKHAGGVTGG WDNLLAVIPG GSSTPLIPKS VCETVLMDFD ALVQAQTGLG TAAVIVMDRS
   361  TDIVKAIARL IEFYKHESCG QCTPCREGVD WMNKVMARFV RGDARPAEID SLWEISKQIE
   421  GHTICALGDG AAWPVQGLIR HFRPELEERM QRFAQQHQAR QAAS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NDUFV1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

493 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NDUFV1.

Disease | AllUniProt

Conditions NDUFV1 is implicated in, by any mechanism.

• Mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) MIM:618225

Disease | GeneticClinVar

68 pathogenic / likely-pathogenic of 555 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mitochondrial complex I deficiency, nuclear type 4
• Leigh syndrome
• Mitochondrial complex I deficiency, nuclear type 1
• NDUFV1-related disorder
• Mitochondrial complex I deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.21

gnomAD pLI

0

gnomAD missense Z

0.28

DepMap mean gene effect

-0.35

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aerobic respiration
• mitochondrial ATP synthesis coupled electron transport
• mitochondrial electron transport, NADH to ubiquinone
• proton motive force-driven mitochondrial ATP synthesis

Molecular functions

• 4 iron, 4 sulfur cluster binding
• FMN binding
• metal ion binding
• NAD binding
• NADH dehydrogenase (ubiquinone) activity
• oxidoreductase activity

Cellular components

• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex I

Protein domainsUniProt · Pfam · InterPro

• NADH:ubiquinone oxidoreductase, 51kDa subunit, conserved site
• NADH ubiquinone oxidoreductase, F subunit
• NADH-ubiquinone oxidoreductase 51kDa subunit, FMN-binding domain
• NADH-ubiquinone oxidoreductase 51kDa subunit, iron-sulphur binding domain
• NADH-ubiquinone oxidoreductase 51kDa subunit, iron-sulphur binding domain superfamily
• NADH-ubiquinone oxidoreductase 51kDa subunit, FMN-binding domain superfamily
• Complex I 51 kDa subunit
• SLBB domain
• Nuo51 FMN-binding domain
• NADH-ubiquinone oxidoreductase-F iron-sulfur binding region
• SLBB domain

KeywordsUniProt

• 4Fe-4S
• Acetylation
• Electron transport
• Flavoprotein
• FMN
• Iron
• Iron-sulfur
• Leigh syndrome
• Membrane
• Metal-binding
• Methylation
• Mitochondrion
• Mitochondrion inner membrane
• NAD
• Oxidoreductase
• Primary mitochondrial disease
• Respiratory chain
• Transit peptide
• Translocase
• Transport
• Ubiquinone

InteractionsUniProt · HPA

Protein binding partners of NDUFV1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RAB5IF
• NDUFA2
• NDUFV3
• VDAC2