Gene Gene information from NCBI Gene database.
Entrez ID 4731
Gene name NADH:ubiquinone oxidoreductase subunit V3
Gene symbol NDUFV3
Synonyms (NCBI Gene)
CI-10kCI-9KD
Chromosome 21
Chromosome location 21q22.3
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
miRNA miRNA information provided by mirtarbase database.
517
miRTarBase ID miRNA Experiments Reference
MIRT028497 hsa-miR-30a-5p Proteomics 18668040
MIRT050773 hsa-miR-17-3p CLASH 23622248
MIRT049551 hsa-miR-92a-3p CLASH 23622248
MIRT036526 hsa-miR-1226-3p CLASH 23622248
MIRT714053 hsa-miR-7976 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 24344204, 30021884, 33961781
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602184 7719 ENSG00000160194
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56181
Protein name NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial (Complex I-9kD) (CI-9kD) (NADH-ubiquinone oxidoreductase 9 kDa subunit) (Renal carcinoma antigen NY-REN-4)
Protein function Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat
PDB 5XTB , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15880 NDUFV3 67 101 NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial Family
Sequence
MAAPCLLRQGRAGALKTMLQEAQVFRGLASTVSLSAESGKSEKGQPQNSKKQSPPKKPAP
VPAEPFDNTTYKNLQHHDYSTYTFLDLNLELSKFRMPQPSSGRESPRH
Sequence length 108
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy
  Respiratory electron transport
Complex I biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bipolar Disorder Bipolar Disorder PSYGENET_DG 10950928
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Diabetes mellitus Pubtator 31864032 Associate
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 9344673
★☆☆☆☆
Found in Text Mining only
Mitochondrial Diseases Mitochondrial Diseases GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 30271587 Associate
★☆☆☆☆
Found in Text Mining only