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Aliases for NDUFV3 Gene

Aliases for NDUFV3 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit V3 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 3, 10kDa 2 3
  • NADH-Ubiquinone Oxidoreductase 9 KDa Subunit 3 4
  • Renal Carcinoma Antigen NY-REN-4 3 4
  • Complex I 10kDa Subunit 2 3
  • Complex I-9kD 3 4
  • CI-9KD 3 4
  • NADH Dehydrogenase [Ubiquinone] Flavoprotein 3, Mitochondrial 3
  • Complex I, Mitochondrial Respiratory Chain, 10-KD Subunit 3
  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 3 (10kD) 2
  • NADH-Ubiquinone Oxidoreductase Flavoprotein 3, 10kD 3
  • Mitochondrial NADH Oxidoreductase-Like Protein 3
  • NADH-Ubiquinone Oxidoreductase 9 KD Subunit 3
  • CI-10k 3

External Ids for NDUFV3 Gene

Previous GeneCards Identifiers for NDUFV3 Gene

  • GC21P040847
  • GC21P043194
  • GC21P043193
  • GC21P043172
  • GC21P044299

Summaries for NDUFV3 Gene

Entrez Gene Summary for NDUFV3 Gene

  • 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]

GeneCards Summary for NDUFV3 Gene

NDUFV3 (NADH:Ubiquinone Oxidoreductase Subunit V3) is a Protein Coding gene. Diseases associated with NDUFV3 include Autosomal Recessive Nonsyndromic Deafness and Nonsyndromic Deafness. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include poly(A) RNA binding and NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for NDUFV3 Gene

  • 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 immediate electron acceptor for the enzyme is believed to be ubiquinone. May be the terminally assembled subunit of Complex I.

Gene Wiki entry for NDUFV3 Gene

Additional gene information for NDUFV3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFV3 Gene

Genomics for NDUFV3 Gene

Regulatory Elements for NDUFV3 Gene

Enhancers for NDUFV3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21H042923 1.4 Ensembl ENCODE 29.4 +49.4 49384 11 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF2 ZBTB7B ZNF766 ZNF207 ZNF143 U2AF1 WDR4 RRP1B ENSG00000233754 NDUFV3 SIK1 ENSG00000224100 PKNOX1 FRGCA UBASH3A
GH21H042935 1.5 FANTOM5 Ensembl ENCODE 26 +59.5 59455 7 ZFP64 TCF12 ZNF766 ZNF143 FOS ATF7 CAVIN1 ZNF592 MEF2D SMARCA4 NDUFV3 PKNOX1 ENSG00000224100 FRGCA WDR4 CBS PDXK MIR5692B ERVH48-1
GH21H042878 1.1 ENCODE 19.7 -0.2 -172 2 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 WDR4 PRDM15 RRP1B U2AF1 NDUFV3 PKNOX1 ENSG00000235772 ZBTB21 GC21M042796
GH21H043105 1.6 FANTOM5 ENCODE 11.4 +228.7 228703 5 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 WDR4 U2AF1 RRP1B PWP2 ENSG00000233754 PKNOX1 NDUFV3 FRGCA LOC101928369 GC21P043111
GH21H042892 1.1 ENCODE 14.8 +13.6 13611 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 FOS WDR4 RRP1B U2AF1 PKNOX1 NDUFV3 ENSG00000235772 ENSG00000233754 LOC105372817 PIR40183
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFV3 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFV3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000142787 -444 2001 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for NDUFV3 Gene

Chromosome:
21
Start:
42,879,644 bp from pter
End:
42,913,304 bp from pter
Size:
33,661 bases
Orientation:
Plus strand

Genomic View for NDUFV3 Gene

Genes around NDUFV3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFV3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFV3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFV3 Gene

Proteins for NDUFV3 Gene

  • Protein details for NDUFV3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56181-NDUV3_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial
    Protein Accession:
    P56181
    Secondary Accessions:
    • A8K0M1
    • J3KNX7
    • Q6FGD3
    • Q8WU60
    • Q9HCR5

    Protein attributes for NDUFV3 Gene

    Size:
    108 amino acids
    Molecular mass:
    11941 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme.

    Alternative splice isoforms for NDUFV3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFV3 Gene

Post-translational modifications for NDUFV3 Gene

  • Ubiquitination at Lys127
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFV3 Gene

No data available for DME Specific Peptides for NDUFV3 Gene

Domains & Families for NDUFV3 Gene

Gene Families for NDUFV3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NDUFV3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFV3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56181

UniProtKB/Swiss-Prot:

NDUV3_HUMAN :
  • Belongs to the complex I NDUFV3 subunit family.
Family:
  • Belongs to the complex I NDUFV3 subunit family.
genes like me logo Genes that share domains with NDUFV3: view

Function for NDUFV3 Gene

Molecular function for NDUFV3 Gene

GENATLAS Biochemistry:
NADH ubiquinone dehydrogenase (Q reductase),component of the complex I multi-subunit of the phosphorylation (OXPHOS),flavoprotein 3,inner mitochondrial membrane,ubiquitously expressed
UniProtKB/Swiss-Prot 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 immediate electron acceptor for the enzyme is believed to be ubiquinone. May be the terminally assembled subunit of Complex I.

Gene Ontology (GO) - Molecular Function for NDUFV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,TAS 9878551
genes like me logo Genes that share ontologies with NDUFV3: view
genes like me logo Genes that share phenotypes with NDUFV3: view

Animal Model Products

CRISPR Products

miRNA for NDUFV3 Gene

miRTarBase miRNAs that target NDUFV3

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NDUFV3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFV3 Gene

Localization for NDUFV3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFV3 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFV3 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA,IEA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS,IMP 9878551
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFV3: view

Pathways & Interactions for NDUFV3 Gene

genes like me logo Genes that share pathways with NDUFV3: view

Gene Ontology (GO) - Biological Process for NDUFV3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0042775 mitochondrial ATP synthesis coupled electron transport IMP 24746669
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFV3: view

No data available for SIGNOR curated interactions for NDUFV3 Gene

Drugs & Compounds for NDUFV3 Gene

(1) Drugs for NDUFV3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Nutra Target 0
genes like me logo Genes that share compounds with NDUFV3: view

Transcripts for NDUFV3 Gene

Unigene Clusters for NDUFV3 Gene

NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NDUFV3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFV3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6
SP1: - -
SP2: - - - -
SP3:
SP4: - -
SP5: - - - - -
SP6:

Relevant External Links for NDUFV3 Gene

GeneLoc Exon Structure for
NDUFV3
ECgene alternative splicing isoforms for
NDUFV3

Expression for NDUFV3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFV3 Gene

mRNA differential expression in normal tissues according to GTEx for NDUFV3 Gene

This gene is overexpressed in Muscle - Skeletal (x4.1) and Heart - Left Ventricle (x4.0).

Protein differential expression in normal tissues from HIPED for NDUFV3 Gene

This gene is overexpressed in Heart (23.1) and Fetal Brain (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFV3 Gene



NURSA nuclear receptor signaling pathways regulating expression of NDUFV3 Gene:

NDUFV3

SOURCE GeneReport for Unigene cluster for NDUFV3 Gene:

Hs.473937

Evidence on tissue expression from TISSUES for NDUFV3 Gene

  • Nervous system(4.5)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with NDUFV3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFV3 Gene

Orthologs for NDUFV3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFV3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFV3 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFV3 33 34
  • 71.56 (n)
mouse
(Mus musculus)
Mammalia Ndufv3 33 16 34
  • 65.87 (n)
rat
(Rattus norvegicus)
Mammalia Ndufv3 33
  • 64.96 (n)
cow
(Bos Taurus)
Mammalia NDUFV3 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFV3 34
  • 36 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFV3 34
  • 36 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFV3 34
  • 26 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ndufv3 34 34
  • 45 (a)
OneToMany
wufl83h06 33
Species where no ortholog for NDUFV3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFV3 Gene

ENSEMBL:
Gene Tree for NDUFV3 (if available)
TreeFam:
Gene Tree for NDUFV3 (if available)

Paralogs for NDUFV3 Gene

No data available for Paralogs for NDUFV3 Gene

Variants for NDUFV3 Gene

Sequence variations from dbSNP and Humsavar for NDUFV3 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000083528 -- 42,908,532(+) CACAG(A/G)TAGGT intron-variant
rs1000095855 -- 42,904,778(+) ACCCC(A/C)CCCTG intron-variant
rs1000242280 -- 42,908,666(+) TCATA(A/G)AGAGC intron-variant
rs1000435693 -- 42,897,963(+) GAGCC(A/T)CCGTG intron-variant
rs1000516601 -- 42,893,039(+) GCAGC(C/T)CCCGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NDUFV3 Gene

Variant ID Type Subtype PubMed ID
esv1340851 CNV insertion 17803354
esv1737156 CNV insertion 17803354
esv2652948 CNV insertion 19546169
esv2666871 CNV deletion 23128226
esv3568210 CNV loss 25503493
esv3584478 CNV gain 24956385
nsv187067 CNV insertion 16902084
nsv587657 CNV gain 21841781
nsv834105 CNV loss 17160897

Variation tolerance for NDUFV3 Gene

Residual Variation Intolerance Score: 44.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.11; 69.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFV3 Gene

Human Gene Mutation Database (HGMD)
NDUFV3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFV3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFV3 Gene

Disorders for NDUFV3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFV3 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
autosomal recessive nonsyndromic deafness
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFV3

Genetic Association Database (GAD)
NDUFV3
Human Genome Epidemiology (HuGE) Navigator
NDUFV3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFV3
genes like me logo Genes that share disorders with NDUFV3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFV3 Gene

Publications for NDUFV3 Gene

  1. Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3). (PMID: 9344673) de Coo RF … van Oost BA (Genomics 1997) 2 3 4 22 60
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 45 60
  5. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr JM … Deary IJ (Mechanisms of ageing and development 2008) 3 45 60

Products for NDUFV3 Gene

Sources for NDUFV3 Gene

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