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Aliases for NDUFB3 Gene

Aliases for NDUFB3 Gene

  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 3, 12kDa 2 3
  • NADH-Ubiquinone Oxidoreductase B12 Subunit 3 4
  • Complex I-B12 3 4
  • CI-B12 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 3 (12kD, B12) 2
  • Complex I B12 Subunit 2
  • B12 3

External Ids for NDUFB3 Gene

Previous GeneCards Identifiers for NDUFB3 Gene

  • GC02P200153
  • GC02P200661
  • GC02P201900
  • GC02P202139
  • GC02P201762
  • GC02P201644
  • GC02P201936
  • GC02P193787

Summaries for NDUFB3 Gene

Entrez Gene Summary for NDUFB3 Gene

  • This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for NDUFB3 Gene

NDUFB3 (NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 3, 12kDa) is a Protein Coding gene. Diseases associated with NDUFB3 include mitochondrial complex i deficiency. Among its related pathways are Metabolism and Alzheimers disease. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for NDUFB3 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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFB3 Gene

Genomics for NDUFB3 Gene

Regulatory Elements for NDUFB3 Gene

Genomic Location for NDUFB3 Gene

Chromosome:
2
Start:
201,071,433 bp from pter
End:
201,085,750 bp from pter
Size:
14,318 bases
Orientation:
Plus strand

Genomic View for NDUFB3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFB3 Gene

Proteins for NDUFB3 Gene

  • Protein details for NDUFB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43676-NDUB3_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3
    Protein Accession:
    O43676
    Secondary Accessions:
    • Q6IB80

    Protein attributes for NDUFB3 Gene

    Size:
    98 amino acids
    Molecular mass:
    11402 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

neXtProt entry for NDUFB3 Gene

Proteomics data for NDUFB3 Gene at MOPED

Post-translational modifications for NDUFB3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFB3 Gene

No data available for DME Specific Peptides for NDUFB3 Gene

Domains & Families for NDUFB3 Gene

Protein Domains for NDUFB3 Gene

Suggested Antigen Peptide Sequences for NDUFB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43676

UniProtKB/Swiss-Prot:

NDUB3_HUMAN :
  • Belongs to the complex I NDUFB3 subunit family.
Family:
  • Belongs to the complex I NDUFB3 subunit family.
genes like me logo Genes that share domains with NDUFB3: view

Function for NDUFB3 Gene

Molecular function for NDUFB3 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

Gene Ontology (GO) - Molecular Function for NDUFB3 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 NDUFB3: view

Phenotypes for NDUFB3 Gene

genes like me logo Genes that share phenotypes with NDUFB3: view

Animal Model Products

miRNA for NDUFB3 Gene

miRTarBase miRNAs that target NDUFB3

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFB3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFB3 Gene

Localization for NDUFB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFB3 Gene

Mitochondrion inner membrane; Single-pass membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFB3 Gene COMPARTMENTS Subcellular localization image for NDUFB3 gene
Compartment Confidence
extracellular 5
mitochondrion 5

Gene Ontology (GO) - Cellular Components for NDUFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with NDUFB3: view

Pathways & Interactions for NDUFB3 Gene

genes like me logo Genes that share pathways with NDUFB3: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for NDUFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 9878551
GO:0022900 electron transport chain --
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFB3: view

No data available for SIGNOR curated interactions for NDUFB3 Gene

Drugs & Compounds for NDUFB3 Gene

(5) Drugs for NDUFB3 Gene - From: HMDB and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NADH Nutra Target 0
NAD Pharma Agonist, Activator 0

(3) Additional Compounds for NDUFB3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
genes like me logo Genes that share compounds with NDUFB3: view

Transcripts for NDUFB3 Gene

Unigene Clusters for NDUFB3 Gene

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFB3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFB3 Gene

No ASD Table

Relevant External Links for NDUFB3 Gene

GeneLoc Exon Structure for
NDUFB3
ECgene alternative splicing isoforms for
NDUFB3

Expression for NDUFB3 Gene

mRNA expression in normal human tissues for NDUFB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFB3 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.9).

Protein differential expression in normal tissues from HIPED for NDUFB3 Gene

This gene is overexpressed in Nasal epithelium (19.9) and Heart (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFB3 Gene



SOURCE GeneReport for Unigene cluster for NDUFB3 Gene Hs.109760

genes like me logo Genes that share expression patterns with NDUFB3: view

Protein tissue co-expression partners for NDUFB3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NDUFB3 Gene

Orthologs for NDUFB3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFB3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFB3 35
  • 89.46 (n)
  • 82.65 (a)
NDUFB3 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFB3 35
  • 89.8 (n)
  • 81.63 (a)
NDUFB3 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufb3 35
  • 82.95 (n)
  • 81.4 (a)
Ndufb3 16
Ndufb3 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFB3 35
  • 100 (n)
  • 100 (a)
NDUFB3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufb3 35
  • 82.75 (n)
  • 80 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFB3 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFB3 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFB3 35
  • 67.83 (n)
  • 66.28 (a)
NDUFB3 36
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFB3 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufb3 35
  • 65.5 (n)
  • 70.93 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19560 35
zebrafish
(Danio rerio)
Actinopterygii LOC100332034 35
  • 61.04 (n)
  • 65.06 (a)
ndufb3 36
  • 63 (a)
OneToOne
Species with no ortholog for NDUFB3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NDUFB3 Gene

ENSEMBL:
Gene Tree for NDUFB3 (if available)
TreeFam:
Gene Tree for NDUFB3 (if available)

Paralogs for NDUFB3 Gene

Pseudogenes.org Pseudogenes for NDUFB3 Gene

genes like me logo Genes that share paralogs with NDUFB3: view

No data available for Paralogs for NDUFB3 Gene

Variants for NDUFB3 Gene

Sequence variations from dbSNP and Humsavar for NDUFB3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs4674672 -- 201,079,546(+) taagc(A/G)atcct intron-variant
rs7565481 -- 201,083,145(+) ttttt(C/T)ttgca intron-variant
rs7570788 -- 201,086,110(+) GCCTC(C/T)CAAGT downstream-variant-500B
rs10166874 -- 201,083,691(+) ttttt(A/C)tgcat intron-variant
rs10194168 -- 201,077,714(+) gtagt(C/T)agtta intron-variant

Variation tolerance for NDUFB3 Gene

Residual Variation Intolerance Score: 63.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFB3 Gene

HapMap Linkage Disequilibrium report
NDUFB3
Human Gene Mutation Database (HGMD)
NDUFB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDUFB3 Gene

Disorders for NDUFB3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NDUFB3 Gene - From: OMIM and ClinVar

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
- elite association

Relevant External Links for NDUFB3

Genetic Association Database (GAD)
NDUFB3
Human Genome Epidemiology (HuGE) Navigator
NDUFB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFB3
genes like me logo Genes that share disorders with NDUFB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFB3 Gene

Publications for NDUFB3 Gene

  1. Assignment of human NADH dehydrogenase (ubiquinone) 1 beta subcomplex 3 (NDUFB3) and of its four pseudogenes to human chromosomes 2q31.3, 1p13.3-->p13.1, 9q32-->q34.1, 14q22.3-->q23.1 and 14q32.2 by radiation hybrid mapping. (PMID: 11474204) Jensen L.L. … Hansen L.L. (Cytogenet. Cell Genet. 2001) 2 67
  2. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PMID: 9425316) Ton C. … Liew C.-C. (Biochem. Biophys. Res. Commun. 1997) 2 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 67
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 67

Products for NDUFB3 Gene

Sources for NDUFB3 Gene

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