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, 3, 12kDa 2 3
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 3 3 4
  • NADH-Ubiquinone Oxidoreductase B12 Subunit 3 4
  • Complex I-B12 3 4
  • CI-B12 3 4
  • B12 2 3
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 3 (12kD, B12) 2
  • Complex I B12 Subunit 2
  • MC1DN25 3
  • NDUFB3 5

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 Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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.

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 Pubs

Promoters and enhancers for NDUFB3 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 NDUFB3 on the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr2:201,071,433-201,085,750
(GRCh38/hg38)
Size:
14,318 bases
Orientation:
Plus strand

Previous Assembly
chr2:201,936,724-201,950,473
(GRCh37/hg19 by Entrez Gene)
Size:
13,750 bases
Orientation:
Plus strand

chr2:201,936,156-201,950,473
(GRCh37/hg19 by Ensembl)
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

Antibodies for research

  • Abcam antibodies for NDUFB3

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

InterPro:
Blocks:
  • NADH-ubiquinone oxidoreductase B12 subunit

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 TAS,NAS 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

miRNA for NDUFB3 Gene

miRTarBase miRNAs that target NDUFB3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFB3

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
peroxisome 1

Gene Ontology (GO) - Cellular Components for NDUFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
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 --
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
Fe2+ Experimental Pharma 0
NAD Experimental Pharma 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
  • Sulphide(2-)
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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFB3

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(4.5)
  • Lung(4.3)
  • Muscle(2.8)
  • Nervous system(2.7)
  • Kidney(2.4)
  • Liver(2.3)
  • Stomach(2.1)

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

Primer products for research

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 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NDUFB3 29 30
  • 89.8 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NDUFB3 29 30
  • 89.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ndufb3 29 16 30
  • 82.95 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ndufb3 29
  • 82.75 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NDUFB3 30
  • 71 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NDUFB3 30
  • 63 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NDUFB3 29 30
  • 67.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NDUFB3 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ndufb3 29
  • 65.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19560 29
Zebrafish
(Danio rerio)
Actinopterygii ndufb3 30
  • 63 (a)
OneToOne
LOC100332034 29
  • 61.04 (n)
Species where no ortholog for NDUFB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for NDUFB3

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
rs11887751 Benign: not provided 201,078,708(+) A/G
NM_002491.3(NDUFB3):c.-2-173A>G
INTRON
rs139936993 Uncertain Significance: not provided 201,085,500(+) T/C
NM_002491.3(NDUFB3):c.182T>C (p.Val61Ala)
MISSENSE
rs142609245 Pathogenic/Likely Pathogenic: Mitochondrial complex 1 deficiency, nuclear type 25; Mitochondrial complex I deficiency; Mitochondrial complex I deficiency, nuclear type 1; Inborn genetic diseases; not provided. Mitochondrial complex I deficiency, nuclear type 25 (MC1DN25) [MIM:618246] 201,078,946(+) T/Cp.Trp22Arg
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
MISSENSE
rs144513268 Conflicting Interpretations: not provided 201,078,901(+) C/T
NM_002491.3(NDUFB3):c.19C>T (p.His7Tyr)
MISSENSE
rs144629284 Likely Benign: not provided 201,079,273(+) C/T
NM_002491.3(NDUFB3):c.140+251C>T
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NDUFB3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
NDUFB3

SNP Genotyping and Copy Number Assays for research

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

Disorders for NDUFB3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NDUFB3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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 variants affecting the gene represented in this entry.

Additional Disease Information for NDUFB3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4
  3. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. (PMID: 22277967) Calvo SE … Mootha VK (Science translational medicine 2012) 3 72
  4. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. (PMID: 22499348) Haack TB … Prokisch H (Journal of medical genetics 2012) 4 72
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40

Products for NDUFB3 Gene

Sources for NDUFB3 Gene