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Aliases for NDUFB3 Gene

Aliases for NDUFB3 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit B3 2 3 5
  • 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
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 3 3
  • 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:Ubiquinone Oxidoreductase Subunit B3) is a Protein Coding gene. Diseases associated with NDUFB3 include Mitochondrial Complex I Deficiency and Juvenile Amyotrophic Lateral Sclerosis. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (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.

Additional gene information for NDUFB3 Gene

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

Genomics for NDUFB3 Gene

GeneHancer (GH) Regulatory Elements for NDUFB3 Gene

Promoters and enhancers for NDUFB3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I201070 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.4 389 2.8 CLOCK ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 NDUFB3 FAM126B ORC2 CLK1 CDK15 KCTD18 RNU6-762P CFLAR-AS1 MPP4 ENSG00000273209
GH02I201068 Enhancer 1 ENCODE 0.8 -2.1 -2069 1.4 SMAD1 ATF1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ETS1 YY1 ZNF143 NDUFB3 RPL23AP30 FAM126B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NDUFB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NDUFB3 gene promoter:

Genomic Locations for NDUFB3 Gene

Genomic Locations for NDUFB3 Gene
chr2:201,071,433-201,085,750
(GRCh38/hg38)
Size:
14,318 bases
Orientation:
Plus strand
chr2:201,936,156-201,950,473
(GRCh37/hg19)

Genomic View for NDUFB3 Gene

Genes around NDUFB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.

    Three dimensional structures from OCA and Proteopedia for NDUFB3 Gene

neXtProt entry for NDUFB3 Gene

Post-translational modifications for NDUFB3 Gene

No Post-translational modifications

Other Protein References for NDUFB3 Gene

No data available for DME Specific Peptides for NDUFB3 Gene

Domains & Families for NDUFB3 Gene

Gene Families for NDUFB3 Gene

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

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.

Phenotypes From GWAS Catalog for NDUFB3 Gene

Gene Ontology (GO) - Molecular Function for NDUFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,TAS 9878551
genes like me logo Genes that share ontologies with NDUFB3: view
genes like me logo Genes that share phenotypes with NDUFB3: view

Human Phenotype Ontology for NDUFB3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for NDUFB3 Gene

miRTarBase miRNAs that target NDUFB3

Clone 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
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 NDUFB3 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for NDUFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with NDUFB3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NDUFB3 Gene

Pathways & Interactions for NDUFB3 Gene

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

Gene Ontology (GO) - Biological Process for NDUFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0022900 electron transport chain IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
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: DrugBank and HMDB

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

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NDUFB3 Gene



Protein tissue co-expression partners for NDUFB3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFB3 Gene:

NDUFB3

SOURCE GeneReport for Unigene cluster for NDUFB3 Gene:

Hs.109760

Evidence on tissue expression from TISSUES for NDUFB3 Gene

  • Heart(4.4)
  • Lung(4.3)
  • Nervous system(2.3)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFB3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFB3: view

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
chimpanzee
(Pan troglodytes)
Mammalia NDUFB3 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia NDUFB3 33 34
  • 89.8 (n)
cow
(Bos Taurus)
Mammalia NDUFB3 33 34
  • 89.46 (n)
mouse
(Mus musculus)
Mammalia Ndufb3 33 16 34
  • 82.95 (n)
rat
(Rattus norvegicus)
Mammalia Ndufb3 33
  • 82.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFB3 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFB3 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFB3 33 34
  • 67.83 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFB3 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufb3 33
  • 65.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19560 33
zebrafish
(Danio rerio)
Actinopterygii ndufb3 34
  • 63 (a)
OneToOne
LOC100332034 33
  • 61.04 (n)
Species where no ortholog for NDUFB3 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs142609245 conflicting-interpretations-of-pathogenicity, likely-pathogenic, not provided, Mitochondrial complex I deficiency, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 201,078,946(+) T/C coding_sequence_variant, missense_variant
rs200800978 pathogenic, likely-pathogenic, Mitochondrial complex I deficiency, not provided 201,085,526(+) G/T coding_sequence_variant, stop_gained
rs144513268 uncertain-significance, not specified 201,078,901(+) C/T coding_sequence_variant, missense_variant
rs368909621 uncertain-significance, not specified 201,085,481(+) G/A/C coding_sequence_variant, missense_variant
rs978701792 uncertain-significance, not specified 201,078,886(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFB3 Gene

Variant ID Type Subtype PubMed ID
nsv584160 CNV loss 21841781

Variation tolerance for NDUFB3 Gene

Residual Variation Intolerance Score: 63.2% 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)

Additional Variant Information for NDUFB3 Gene

Human Gene Mutation Database (HGMD)
NDUFB3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFB3 Gene

Disorders for NDUFB3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NDUFB3 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
leigh syndrome
  • ls
leber hereditary optic neuropathy
  • leber optic atrophy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUB3_HUMAN
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269 PubMed:22499348, ECO:0000269 PubMed:27091925}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFB3

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 NDUFB3: view

No data available for Genatlas for NDUFB3 Gene

Publications for NDUFB3 Gene

  1. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PMID: 9425316) Ton C … Liew CC (Biochemical and biophysical research communications 1997) 2 3 4 58
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for NDUFB3 Gene

Sources for NDUFB3 Gene

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