The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor... See more...

Aliases for NDUFB6 Gene

Aliases for NDUFB6 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit B6 2 3 5
  • NADH-Ubiquinone Oxidoreductase B17 Subunit 2 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 6 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 6, 17kDa 2 3
  • Complex I, Mitochondrial Respiratory Chain, B17 Subunit 2 3
  • NADH-Ubiquinone Oxidoreductase Beta Subunit, 6 2 3
  • Complex I-B17 3 4
  • CI-B17 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 6 (17kD, B17) 2
  • B17 3
  • CI 3

External Ids for NDUFB6 Gene

Previous GeneCards Identifiers for NDUFB6 Gene

  • GC09M032865
  • GC09M032723
  • GC09M032543
  • GC09M032510

Summaries for NDUFB6 Gene

Entrez Gene Summary for NDUFB6 Gene

  • The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011]

GeneCards Summary for NDUFB6 Gene

NDUFB6 (NADH:Ubiquinone Oxidoreductase Subunit B6) is a Protein Coding gene. Diseases associated with NDUFB6 include 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 NDUFB6 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.

Gene Wiki entry for NDUFB6 Gene

Additional gene information for NDUFB6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFB6 Gene

Genomics for NDUFB6 Gene

GeneHancer (GH) Regulatory Elements for NDUFB6 Gene

Promoters and enhancers for NDUFB6 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
GH09J032571 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 510.4 +0.6 578 3.2 ZBTB40 ZNF217 EP300 CTCF SIN3A MYC USF1 POLR2G SP1 NCOR1 NDUFB6 APTX DNAJA1 RF00994-1122
GH09J032550 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.4 +21.0 20995 5.6 RXRA FOXK2 ZBTB40 ZNF217 EP300 ZSCAN5C TCF12 SIN3A NRF1 POLR2G DDX58 NONHSAG051996.2 lnc-ACO1-10 TOPORS SMIM27 NDUFB6 NFX1
GH09J032382 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.6 +189.0 188954 3.9 POLR2G NCOR1 PHF8 ZFX CTCF ZIC2 KDM6A POLR2A ZBTB26 TGIF2 ACO1 NDUFB6 TOPORS piR-56341-239
GH09J032523 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 11.5 +47.5 47522 4.3 FOXK2 ZNF217 CTCF TCF12 SIN3A POLR2G NCOR1 POLR2A SAP30 MEF2C DDX58 NDUFB6 ACO1 NFX1 piR-56883-192
GH09J032422 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.3 +147.8 147769 6.5 POLR2G NCOR1 FOS KDM6A ZBTB25 TGIF2 SKI TEAD1 FOXA2 ZSCAN9 piR-56341-240 ACO1 NDUFB6 TMEM215 DDX58 lnc-DDX58-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFB6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFB6

Top Transcription factor binding sites by QIAGEN in the NDUFB6 gene promoter:
  • AML1a

Genomic Locations for NDUFB6 Gene

Genomic Locations for NDUFB6 Gene
chr9:32,553,001-32,573,184
(GRCh38/hg38)
Size:
20,184 bases
Orientation:
Minus strand
chr9:32,552,997-32,573,182
(GRCh37/hg19)
Size:
20,186 bases
Orientation:
Minus strand

Genomic View for NDUFB6 Gene

Genes around NDUFB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFB6 Gene

Proteins for NDUFB6 Gene

  • Protein details for NDUFB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95139-NDUB6_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6
    Protein Accession:
    O95139
    Secondary Accessions:
    • A8K0Y7
    • Q5VYT2
    • Q6IB84

    Protein attributes for NDUFB6 Gene

    Size:
    128 amino acids
    Molecular mass:
    15489 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFB6 Gene

    Alternative splice isoforms for NDUFB6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFB6 Gene

Post-translational modifications for NDUFB6 Gene

  • Ubiquitination at Lys9, Lys49, Lys54, and Lys93
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFB6 Gene

No data available for DME Specific Peptides for NDUFB6 Gene

Domains & Families for NDUFB6 Gene

Gene Families for NDUFB6 Gene

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

Protein Domains for NDUFB6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFB6 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase B17 subunit (NDUB6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95139

UniProtKB/Swiss-Prot:

NDUB6_HUMAN :
  • Belongs to the complex I NDUFB6 subunit family.
Family:
  • Belongs to the complex I NDUFB6 subunit family.
genes like me logo Genes that share domains with NDUFB6: view

Function for NDUFB6 Gene

Molecular function for NDUFB6 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.
GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),17kDa,component beta 6,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

Phenotypes From GWAS Catalog for NDUFB6 Gene

Gene Ontology (GO) - Molecular Function for NDUFB6 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 NDUFB6: view
genes like me logo Genes that share phenotypes with NDUFB6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFB6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFB6 Gene

Localization for NDUFB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFB6 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 NDUFB6 gene
Compartment Confidence
mitochondrion 5
nucleus 5
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDUFB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I IEA,NAS 9878551
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFB6: view

Pathways & Interactions for NDUFB6 Gene

genes like me logo Genes that share pathways with NDUFB6: view

Gene Ontology (GO) - Biological Process for NDUFB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS,IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0042775 mitochondrial ATP synthesis coupled electron transport IMP,IBA 24746669
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFB6: view

No data available for SIGNOR curated interactions for NDUFB6 Gene

Drugs & Compounds for NDUFB6 Gene

(1) Drugs for NDUFB6 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
genes like me logo Genes that share compounds with NDUFB6: view

Transcripts for NDUFB6 Gene

mRNA/cDNA for NDUFB6 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFB6

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFB6 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for NDUFB6 Gene

GeneLoc Exon Structure for
NDUFB6

Expression for NDUFB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFB6 Gene

Protein differential expression in normal tissues from HIPED for NDUFB6 Gene

This gene is overexpressed in Brain (18.6) and Frontal cortex (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFB6 Gene



Protein tissue co-expression partners for NDUFB6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFB6

SOURCE GeneReport for Unigene cluster for NDUFB6 Gene:

Hs.493668

Evidence on tissue expression from TISSUES for NDUFB6 Gene

  • Nervous system(4.6)
  • Blood(4.2)
  • Skin(4.2)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with NDUFB6: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFB6 Gene

Orthologs for NDUFB6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for NDUFB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFB6 31 30
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFB6 31 30
  • 84.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFB6 31 30
  • 82.81 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufb6 30
  • 78.65 (n)
mouse
(Mus musculus)
Mammalia Ndufb6 17 31 30
  • 77.6 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFB6 31
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFB6 31
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFB6 31 30
  • 60.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFB6 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufb6 30
  • 67.19 (n)
zebrafish
(Danio rerio)
Actinopterygii ndufb6 31 30
  • 58.33 (n)
OneToOne
zgc73375 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5152 31
  • 26 (a)
OneToOne
Species where no ortholog for NDUFB6 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)
  • 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 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 NDUFB6 Gene

ENSEMBL:
Gene Tree for NDUFB6 (if available)
TreeFam:
Gene Tree for NDUFB6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFB6: view image

Paralogs for NDUFB6 Gene

Pseudogenes.org Pseudogenes for NDUFB6 Gene

genes like me logo Genes that share paralogs with NDUFB6: view

No data available for Paralogs for NDUFB6 Gene

Variants for NDUFB6 Gene

Additional dbSNP identifiers (rs#s) for NDUFB6 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDUFB6 Gene

Variant ID Type Subtype PubMed ID
esv3620302 CNV gain 21293372
esv3620303 CNV gain 21293372
nsv831540 CNV gain 17160897

Variation tolerance for NDUFB6 Gene

Residual Variation Intolerance Score: 69.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFB6 Gene

Human Gene Mutation Database (HGMD)
NDUFB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFB6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFB6 Gene

Disorders for NDUFB6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NDUFB6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NDUFB6

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 NDUFB6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFB6 Gene

Publications for NDUFB6 Gene

  1. Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I. (PMID: 9760212) Smeitink J … van den Heuvel L (Human genetics 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. Short-term exercise training does not stimulate skeletal muscle ATP synthesis in relatives of humans with type 2 diabetes. (PMID: 19265027) Kacerovsky-Bielesz G … Roden M (Diabetes 2009) 3 41 54
  5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PMID: 19064571) Wang L … Thibodeau SN (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 41 54

Products for NDUFB6 Gene

Sources for NDUFB6 Gene