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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, 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
  • NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 6 3
  • B17 3
  • CI 3

External Ids for NDUFB6 Gene

Previous GeneCards Identifiers for NDUFB6 Gene

  • GC09M032865
  • GC09M032723
  • GC09M032543

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 Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia and Mitochondrial Complex I Deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for NDUFB6 Gene

Genomics for NDUFB6 Gene

Regulatory Elements for NDUFB6 Gene

Enhancers for NDUFB6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H032550 1.4 ENCODE dbSUPER 12.4 +20.8 20763 5 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 NFX1 TOPORS TCEA1P4 NDUFB6 SMU1 ASS1P12 NOL6 DDX58 SMIM27
GH09H032523 1.4 FANTOM5 ENCODE 11.5 +47.5 47522 4 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 SP5 DDX58 NDUFB6 ACO1 NFX1 LOC101060445
GH09H032422 1.4 Ensembl ENCODE dbSUPER 11.3 +147.8 147769 6 ELF3 TBP FOXA2 ARID4B THRB ZSCAN9 RAD21 RARA YY1 FOS ACO1 NDUFB6 TMEM215 DDX58 LOC105376014
GH09H032379 1.2 Ensembl ENCODE 12.6 +193.8 193783 0 ELF3 FOXA2 RB1 ARID4B DMAP1 RAD21 RFX5 ZNF121 ZNF143 RCOR1 NDUFB6 ACO1 SLC25A5P8
GH09H032382 1.2 ENCODE dbSUPER 12.6 +189.3 189268 3 ATF1 ARID4B SIN3A DMAP1 YY1 GLIS2 ZNF143 ZNF207 SP3 SP5 TOPORS ASS1P12 SMU1 DFFBP1 NDUFB6 NFX1 TCEA1P4 ENSG00000223440 ACO1 SLC25A5P8
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFB6 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFB6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000234301 484 1801 HNRNPUL1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 SP3 SP5

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

Genomic Location for NDUFB6 Gene

Chromosome:
9
Start:
32,552,999 bp from pter
End:
32,573,184 bp from pter
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.

    Alternative splice isoforms for NDUFB6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFB6 Gene

Post-translational modifications for NDUFB6 Gene

  • Ubiquitination at posLast=4949, Lys54, and posLast=9393
  • 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:

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

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
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 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

Clone Products

  • Applied Biological Materials Clones for NDUFB6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
cytosol 2
extracellular 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 NAS,IMP 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 --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0042775 mitochondrial ATP synthesis coupled electron transport IMP 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 Nutra Target 0
genes like me logo Genes that share compounds with NDUFB6: view

Transcripts for NDUFB6 Gene

Unigene Clusters for NDUFB6 Gene

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NDUFB6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
NDUFB6

Expression for NDUFB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for NDUFB6 Gene



Protein tissue co-expression partners for NDUFB6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFB6 Gene:

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

Primer Products

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 34 33
  • 99.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFB6 34 33
  • 84.9 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFB6 34 33
  • 82.81 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufb6 33
  • 78.65 (n)
mouse
(Mus musculus)
Mammalia Ndufb6 34 16 33
  • 77.6 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFB6 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFB6 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFB6 34 33
  • 60.94 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFB6 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufb6 33
  • 67.19 (n)
zebrafish
(Danio rerio)
Actinopterygii ndufb6 33 34
  • 58.33 (n)
zgc73375 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5152 34
  • 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)

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

Sequence variations from dbSNP and Humsavar for NDUFB6 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000019657 -- 32,575,174(+) TACTC(A/T)TGACC upstream-variant-2KB
rs1000031496 -- 32,572,824(+) GTGTT(C/G)AGGCT intron-variant
rs1000116774 -- 32,568,356(+) CTTGA(A/T)AGATG intron-variant
rs1000128902 -- 32,559,151(+) CTTAA(A/C)TTCTC intron-variant
rs1000297072 -- 32,554,857(+) CTATT(C/T)AGCAA intron-variant

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)

Relevant External Links 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 for NDUFB6 Gene

Disorders for NDUFB6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NDUFB6 Gene - From: HGMD, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFB6

Genetic Association Database (GAD)
NDUFB6
Human Genome Epidemiology (HuGE) Navigator
NDUFB6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFB6
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 60
  2. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 60
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  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 45 60
  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 45 60

Products for NDUFB6 Gene

Sources for NDUFB6 Gene

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