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 s... See more...

Aliases for NDUFB3 Gene

Aliases for NDUFB3 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit B3 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 3 3 4
  • 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
  • MC1DN25 3
  • 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, Nuclear Type 25 and Mitochondrial Complex I Deficiency, Nuclear Type 1. 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 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 , Rfam classification 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
GH02J201068 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.4 -432 5.2 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A TCF12 POLR2G SP1 NCOR1 FAM126B NDUFB3 lnc-FAM126B-3 CFLAR-AS1 MPP4 ENSG00000273209 TMEM237 PPIL3 RPL23AP30 lnc-NDUFB3-1
GH02J200412 Enhancer 0.3 Ensembl dbSUPER 4.4 -660.0 -660032 0.4 SPATS2L NDUFB3 RNY4P34 RF00017-3397 ENSG00000287299 LOC101927741 NONHSAG030212.2
GH02J201084 Enhancer 0.3 Ensembl 0.4 +13.5 13468 2.2 GATA1 PPIL3 CFLAR CFLAR-AS1 CASP10 ENSG00000183308 ORC2 NIF3L1 RNU6-312P CASP8 piR-56497-085
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFB3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFB3

Top Transcription factor binding sites by QIAGEN in the NDUFB3 gene promoter:
  • AML1a
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • HEN1
  • NF-Y
  • NF-YA
  • NF-YB
  • POU6F1 (c2)

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)
Size:
14,318 bases
Orientation:
Plus strand

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

  • 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

Gene Families for NDUFB3 Gene

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

Protein Domains for NDUFB3 Gene

Blocks:
  • NADH-ubiquinone oxidoreductase B12 subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFB3 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase B12 subunit (NDUB3_HUMAN)

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

CRISPR 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
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 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:0070469 respiratory chain IEA --
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

(6) 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
Iron Approved, Experimental Pharma 1496
NAD Experimental Pharma Full agonist, Agonist, Activator 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFB3 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 NDUFB3: view

Transcripts for NDUFB3 Gene

mRNA/cDNA for NDUFB3 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 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 NDUFB3 Gene

No ASD Table

Relevant External Links for NDUFB3 Gene

GeneLoc Exon Structure for
NDUFB3

Expression for NDUFB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for NDUFB3 Gene



Protein tissue co-expression partners for NDUFB3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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 31 30
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFB3 31 30
  • 89.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFB3 31 30
  • 89.46 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufb3 17 31 30
  • 82.95 (n)
rat
(Rattus norvegicus)
Mammalia Ndufb3 30
  • 82.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFB3 31
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFB3 31
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFB3 31 30
  • 67.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFB3 31
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufb3 30
  • 65.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19560 30
zebrafish
(Danio rerio)
Actinopterygii ndufb3 31
  • 63 (a)
OneToOne
LOC100332034 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFB3: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFB3 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
672606 Likely Benign: not provided 201,079,273(+) C/T INTRON_VARIANT
675479 Benign: not provided 201,078,708(+) A/G INTRON_VARIANT
804353 Uncertain Significance: Congenital cataract; Seizures; Developmental regression; Death in childhood 201,079,018(+) G/A MISSENSE_VARIANT
809137 Likely Pathogenic: not provided 201,085,518(+) TC/T FRAMESHIFT_VARIANT
rs139936993 Uncertain Significance: not provided 201,085,500(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for NDUFB3 Gene

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

(8) MalaCards diseases for NDUFB3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 25
  • mc1dn25
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
juvenile amyotrophic lateral sclerosis
  • amyotrophic lateral sclerosis, juvenile
leigh syndrome
  • ls
mitochondrial disorders
  • mitochondrial encephalomyopathies
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUB3_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 25 (MC1DN25) [MIM:618246]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging 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. MC1DN25 transmission pattern is consistent with autosomal recessive inheritance. {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 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 between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 41 54
  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 54

Products for NDUFB3 Gene

Sources for NDUFB3 Gene