Aliases for NDUFA3 Gene

Aliases for NDUFA3 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A3 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 3 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 3, 9kDa 2 3
  • NADH-Ubiquinone Oxidoreductase B9 Subunit 3 4
  • Complex I B9 Subunit 2 3
  • Complex I-B9 3 4
  • CI-B9 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 3 (9kD, B9) 2
  • B9 3

External Ids for NDUFA3 Gene

Previous GeneCards Identifiers for NDUFA3 Gene

  • GC19P055251
  • GC19P055030
  • GC19P059282
  • GC19P059297
  • GC19P054590
  • GC19P050923

Summaries for NDUFA3 Gene

GeneCards Summary for NDUFA3 Gene

NDUFA3 (NADH:Ubiquinone Oxidoreductase Subunit A3) is a Protein Coding gene. Diseases associated with NDUFA3 include Periodontosis and Toxic Myocarditis. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot Summary for NDUFA3 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.

Additional gene information for NDUFA3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFA3 Gene

Genomics for NDUFA3 Gene

GeneHancer (GH) Regulatory Elements for NDUFA3 Gene

Promoters and enhancers for NDUFA3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFA3

Top Transcription factor binding sites by QIAGEN in the NDUFA3 gene promoter:
  • AML1a
  • AP-1
  • c-Fos
  • c-Jun
  • COMP1
  • NF-1
  • NF-1/L
  • Pax-2
  • Pax-2a
  • YY1

Genomic Locations for NDUFA3 Gene

Genomic Locations for NDUFA3 Gene
chr19:54,102,728-54,109,257
(GRCh38/hg38)
Size:
6,530 bases
Orientation:
Plus strand
chr19:54,606,036-54,612,564
(GRCh37/hg19)
Size:
6,529 bases
Orientation:
Plus strand

Genomic View for NDUFA3 Gene

Genes around NDUFA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA3 Gene

Proteins for NDUFA3 Gene

  • Protein details for NDUFA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95167-NDUA3_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 3
    Protein Accession:
    O95167

    Protein attributes for NDUFA3 Gene

    Size:
    84 amino acids
    Molecular mass:
    9279 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFA3 Gene

neXtProt entry for NDUFA3 Gene

Post-translational modifications for NDUFA3 Gene

  • Ubiquitination at Lys47
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for NDUFA3
  • Boster Bio Antibodies for NDUFA3
  • Santa Cruz Biotechnology (SCBT) Antibodies for NDUFA3

No data available for DME Specific Peptides for NDUFA3 Gene

Domains & Families for NDUFA3 Gene

Gene Families for NDUFA3 Gene

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

Protein Domains for NDUFA3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA3 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase B9 subunit (NDUA3_HUMAN)
  • cDNA FLJ76508, highly similar to Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa (NDUFA3), mRNA (Q6FGG4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95167

UniProtKB/Swiss-Prot:

NDUA3_HUMAN :
  • Belongs to the complex I NDUFA3 subunit family.
Family:
  • Belongs to the complex I NDUFA3 subunit family.
genes like me logo Genes that share domains with NDUFA3: view

Function for NDUFA3 Gene

Molecular function for NDUFA3 Gene

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.

Phenotypes From GWAS Catalog for NDUFA3 Gene

Gene Ontology (GO) - Molecular Function for NDUFA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
genes like me logo Genes that share ontologies with NDUFA3: view
genes like me logo Genes that share phenotypes with NDUFA3: view

Animal Model Products

CRISPR Products

miRNA for NDUFA3 Gene

miRTarBase miRNAs that target NDUFA3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA3 Gene

Localization for NDUFA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA3 Gene

Mitochondrion inner membrane; Single-pass membrane protein.

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 NDUFA3 gene
Compartment Confidence
mitochondrion 5
extracellular 3
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for NDUFA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion HDA 20833797
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS,IEA 9878551
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NDUFA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NDUFA3 Gene

Pathways & Interactions for NDUFA3 Gene

genes like me logo Genes that share pathways with NDUFA3: view

Gene Ontology (GO) - Biological Process for NDUFA3 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:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFA3: view

No data available for SIGNOR curated interactions for NDUFA3 Gene

Drugs & Compounds for NDUFA3 Gene

(6) Drugs for NDUFA3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Iron Approved, Experimental Pharma 1496
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFA3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
genes like me logo Genes that share compounds with NDUFA3: view

Transcripts for NDUFA3 Gene

mRNA/cDNA for NDUFA3 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4
SP1:
SP2: -

Relevant External Links for NDUFA3 Gene

GeneLoc Exon Structure for
NDUFA3

Expression for NDUFA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFA3 Gene

This gene is overexpressed in Bone (9.0), Retina (8.1), Frontal cortex (6.9), Heart (6.5), and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NDUFA3 Gene



Protein tissue co-expression partners for NDUFA3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFA3

SOURCE GeneReport for Unigene cluster for NDUFA3 Gene:

Hs.198269

Evidence on tissue expression from TISSUES for NDUFA3 Gene

  • Liver(4.4)
  • Pancreas(4.3)
  • Blood(4.1)
  • Muscle(2.9)
  • Heart(2.5)
  • Kidney(2)
  • Nervous system(2)
genes like me logo Genes that share expression patterns with NDUFA3: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA3 Gene

Orthologs for NDUFA3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFA3 31 30
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFA3 31 30
  • 86.9 (n)
OneToMany
-- 31
  • 79 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC684509 30
  • 82.94 (n)
mouse
(Mus musculus)
Mammalia Ndufa3 17 31 30
  • 82.14 (n)
dog
(Canis familiaris)
Mammalia NDUFA3 31
  • 77 (a)
OneToMany
-- 31
  • 73 (a)
OneToMany
-- 31
  • 57 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia NDUFA3 31
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA3 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa3 30
  • 63.01 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:100908 30
  • 67.07 (n)
NDUFA3 31
  • 56 (a)
OneToOne
Species where no ortholog for NDUFA3 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)
  • chicken (Gallus gallus)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFA3 Gene

ENSEMBL:
Gene Tree for NDUFA3 (if available)
TreeFam:
Gene Tree for NDUFA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA3: view image

Paralogs for NDUFA3 Gene

No data available for Paralogs for NDUFA3 Gene

Variants for NDUFA3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFA3 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
VAR_036175 A breast cancer sample p.Asn62Asp

Additional dbSNP identifiers (rs#s) for NDUFA3 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFA3 Gene

Variant ID Type Subtype PubMed ID
esv2718812 CNV deletion 23290073
esv3893246 CNV gain 25118596
nsv1056177 CNV gain 25217958
nsv470157 CNV loss 18288195
nsv510773 CNV deletion 20534489
nsv515623 CNV loss 19592680
nsv833877 CNV loss 17160897
nsv953613 CNV deletion 24416366

Variation tolerance for NDUFA3 Gene

Residual Variation Intolerance Score: 85.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFA3 Gene

Human Gene Mutation Database (HGMD)
NDUFA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA3 Gene

Disorders for NDUFA3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NDUFA3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
periodontosis
  • periodontitis, juvenile
toxic myocarditis
visual epilepsy
  • epilepsy, visual
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFA3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NDUFA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFA3 Gene

Publications for NDUFA3 Gene

  1. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. (PMID: 9878551) Loeffen JL … Smeitink JA (Biochemical and biophysical research communications 1998) 2 3 4 54
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  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 41 54
  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 41 54

Products for NDUFA3 Gene

Sources for NDUFA3 Gene