NDUFV3 - NADH:ubiquinone oxidoreductase subunit V3 Gene

Also Known as CI-10k; CI-9KD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4731

About NDUFV3

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:42,893,309-42,913,299 (from NCBI)

This gene has 4 transcripts (splice variants) and 180 orthologues. Ubiquitous expression in fat (RPKM 8.3), heart (RPKM 7.9) and 25 other tissues.

Summary

The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NDUFV3 Products (2)

mRNA Protein Name
NM_001001503.2 NP_001001503.1 NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform b precursor
NM_021075.4 NP_066553.3 NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform a precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
24344204 GOA
Biological Process GO Annotation Evidence References Source
involved in mitochondrial ATP synthesis coupled electron transport IMP
IMP: Inferred from mutant phenotype
24746669 GOA
Cellular Component GO Annotation Evidence References Source
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
28844695 GOA
part of respiratory chain complex I IDA
IDA: Inferred from direct assay
12611891 GOA
part of respiratory chain complex I IMP
IMP: Inferred from mutant phenotype
24746669 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial

  • NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa

NDUFV3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
NDUFV3 P56181 NDUFV1 Homo sapiens P49821 33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Combined Oxidative Phosphorylation Deficiency 7
  • COXPD7

  • Combined Oxidative Phosphorylation Defect Type 7

  • Severe C12orf65-Related Combined Oxidative Phosphorylation Defect

  • Severe C12orf65-Related Coxpd

  • Combined Oxidative Phosphorylation Deficiency, Type 7

Mitochondrial Complex I Deficiency, Nuclear Type 1
  • Mitochondrial Complex I Deficiency

  • Nadh:Q(1) Oxidoreductase Deficiency

  • MC1DN1

  • Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Mitochondrial Respiratory Chain Complex I Deficiency

  • Isolated Nadh-Coenzyme Q Reductase Deficiency

  • Isolated Nadh-Coq Reductase Deficiency

  • Isolated Nadh-Ubiquinone Reductase Deficiency

  • Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

  • Nuclear Type Mitochondrial Complex I Deficiency 1

  • Isolated Complex I Deficiency

  • Complex 1 Mitochondrial Respiratory Chain Deficiency

  • Nadh Coenzyme Q Reductase Deficiency

  • Complex I Mitochondrial Respiratory Chain Deficiency

  • Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

  • Nadh:Ubiquinone Oxidoreductase Deficiency

  • Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus NDUFV3 VGNC VGNC:31976
Rattus norvegicus NDUFV3 RGD RGD:621020
Canis familiaris NDUFV3 VGNC VGNC:43712
Felis catus NDUFV3 VGNC VGNC:102786
Macaca mulatta NDUFV3 VGNC VGNC:75300
Mus musculus NDUFV3 MGD MGI:1890894
Others NDUFV3 NCBI