Alternative titles; symbols
HGNC Approved Gene Symbol: NDUFV3
Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:42,893,309-42,913,299 (from NCBI)
NADH:ubiquinone oxidoreductase (complex I; EC 1.6.5.3) is an inner mitochondrial membrane-bound multisubunit enzyme complex. Complex I consists of at least 41 subunits of which 7 are encoded by the mitochondrial genome. See MTND1 (516000) through MTND6 (516006). As one of the complexes of the mitochondrial respiratory chain, complex I functions in the catalysis of the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. By means of chaotropic agents, complex I can be resolved into 2 hydrophilic fractions, the flavoprotein fraction and the iron-protein fraction, and a hydrophobic fraction. The flavoprotein fraction comprises the 51-, 24-, and 10-kD subunits, all encoded by the nuclear genes NDUFV1 (161015), NDUFV2 (600532), and NDUFV3, respectively. This fraction plays a catalytic role in the oxidation of NADH as it is associated with flavoprotein and NAD binding. The 51-kD and 24-kD subunits are involved in electron transfer (summary by de Coo et al., 1997).
The human gene for the 10-kD flavoprotein subunit was cloned and sequenced by de Coo et al. (1997). The open reading frame contains a 34-amino acid import sequence and a 74-amino acid mature protein sequence. The deduced protein shows sequence homology with the bovine and rat proteins. Northern blot analysis demonstrated alternative splicing and ubiquitous expression of NDUFV3. Highest expression was seen in heart, skeletal muscle, and testis.
De Coo et al. (1997) determined that the NDUFV3 gene contains 3 exons and spans approximately 20 kb.
By fluorescence in situ hybridization, de Coo et al. (1997) assigned the NDUFV3 gene to chromosome 21q22.3. De Coo et al. (1997) suggested that NDUFV3 may play a dosage-dependent role in the phenotype of Down syndrome (190685). Berry et al. (2000) found that NDUFV3 is located approximately 120 kb telomeric to PDE9A (602973).
Berry, A., Scott, H. S., Kudoh, J., Talior, I., Korostishevsky, M., Wattenhofer, M., Guipponi, M., Barras, C., Rossier, C., Shibuya, K., Wang, J., Kawasaki, K., Asakawa, S., Minoshima, S., Shimizu, N., Antonarakis, S., Bonne-Tamir, B. Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. Genomics 68: 22-29, 2000. [PubMed: 10950923] [Full Text: https://doi.org/10.1006/geno.2000.6253]
de Coo, R. F. M., Buddiger, P., Smeets, H. J. M., van Oost, B. A. Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3). Genomics 45: 434-437, 1997. [PubMed: 9344673] [Full Text: https://doi.org/10.1006/geno.1997.4930]