NDUFV1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | NDUFV1, CI-51K, CI51KD, UQOR1, NADH:ubiquinone oxidoreductase core subunit V1, MC1DN4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 161015; MGI: 107851; HomoloGene: 5151; GeneCards: NDUFV1; OMA: NDUFV1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (NDUFV1) is an enzyme that in humans is encoded by the NDUFV1 gene. [5] The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain. Defects in complex I are a common cause of mitochondrial dysfunction. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. [6]
NDUFV1 is located on the q arm of chromosome 11 in position 13.2 and has 10 exons. [6] The NDUFV1 gene produces a 50.8 kDa protein composed of 464 amino acids. [7] [8] NDUFV1, the protein encoded by this gene, is a member of the complex I 51 kDa subunit family. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-binding sites. [6] It also contains a transit peptide domain and is composed of 6 turns, 14 beta strands, and 19 alpha helixes. [9] [10]
Complex I is composed of 45 different subunits. NDUFV1 is a component of the flavoprotein-sulfur (FP) fragment of the enzyme. [11] NDUFV1 is an oxidoreductase and core subunit of complex I that is thought to be required for assembly and catalysis. It is a peripheral membrane protein located on the matrix side of the mitochondrion inner membrane. [9] [10]
NADH + ubiquinone + 5 H+(In) = NAD+ + ubiquinol + 4 H+(Out).
NADH + acceptor = NAD+ + reduced acceptor. [9] [10]
Mutations in the NDUFV1 gene are associated with Mitochondrial Complex I Deficiency, which is autosomal recessive. This deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders. [12] [13] Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype– phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible. [14] However, the majority of cases are caused by mutations in nuclear-encoded genes. [15] [16] It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. [17] Clinical manifestations can include lactic acidosis, cerebral degeneration, ophthalmoplegia, ataxia, spasticity, and dystonia resulting from mutations in NDUFV1. [18] [19]
NDUFV1 has been shown to have 103 binary protein-protein interactions including 97 co-complex interactions. NDUFV1 appears to interact with EWSR1, CREB1, NCOR1, and VDAC1. [20]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
NDUFV1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | NDUFV1, CI-51K, CI51KD, UQOR1, NADH:ubiquinone oxidoreductase core subunit V1, MC1DN4 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 161015; MGI: 107851; HomoloGene: 5151; GeneCards: NDUFV1; OMA: NDUFV1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (NDUFV1) is an enzyme that in humans is encoded by the NDUFV1 gene. [5] The NDUFV1 gene encodes the 51-kD subunit of complex I (NADH:ubiquinone oxidoreductase) of the mitochondrial respiratory chain. Defects in complex I are a common cause of mitochondrial dysfunction. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. [6]
NDUFV1 is located on the q arm of chromosome 11 in position 13.2 and has 10 exons. [6] The NDUFV1 gene produces a 50.8 kDa protein composed of 464 amino acids. [7] [8] NDUFV1, the protein encoded by this gene, is a member of the complex I 51 kDa subunit family. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-binding sites. [6] It also contains a transit peptide domain and is composed of 6 turns, 14 beta strands, and 19 alpha helixes. [9] [10]
Complex I is composed of 45 different subunits. NDUFV1 is a component of the flavoprotein-sulfur (FP) fragment of the enzyme. [11] NDUFV1 is an oxidoreductase and core subunit of complex I that is thought to be required for assembly and catalysis. It is a peripheral membrane protein located on the matrix side of the mitochondrion inner membrane. [9] [10]
NADH + ubiquinone + 5 H+(In) = NAD+ + ubiquinol + 4 H+(Out).
NADH + acceptor = NAD+ + reduced acceptor. [9] [10]
Mutations in the NDUFV1 gene are associated with Mitochondrial Complex I Deficiency, which is autosomal recessive. This deficiency is the most common enzymatic defect of the oxidative phosphorylation disorders. [12] [13] Mitochondrial complex I deficiency shows extreme genetic heterogeneity and can be caused by mutation in nuclear-encoded genes or in mitochondrial-encoded genes. There are no obvious genotype– phenotype correlations, and inference of the underlying basis from the clinical or biochemical presentation is difficult, if not impossible. [14] However, the majority of cases are caused by mutations in nuclear-encoded genes. [15] [16] It causes a wide range of clinical disorders, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. [17] Clinical manifestations can include lactic acidosis, cerebral degeneration, ophthalmoplegia, ataxia, spasticity, and dystonia resulting from mutations in NDUFV1. [18] [19]
NDUFV1 has been shown to have 103 binary protein-protein interactions including 97 co-complex interactions. NDUFV1 appears to interact with EWSR1, CREB1, NCOR1, and VDAC1. [20]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.