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Aliases for NDUFA6 Gene

Aliases for NDUFA6 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A6 2 3 5
  • NADH-Ubiquinone Oxidoreductase B14 Subunit 3 4
  • LYR Motif-Containing Protein 6 3 4
  • Complex I-B14 3 4
  • NADHB14 3 4
  • CI-B14 3 4
  • LYRM6 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 6 (14kD, B14) 2
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 6, 14kDa 2
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 6 3
  • NADH-Ubiquinone Oxidoreductase 1 Alpha Subcomplex, 6 3
  • Complex I B14 Subunit 2
  • B14 3

External Ids for NDUFA6 Gene

Previous GeneCards Identifiers for NDUFA6 Gene

  • GC22M039096
  • GC22M040724
  • GC22M040806
  • GC22M040811
  • GC22M042481
  • GC22M025447

Summaries for NDUFA6 Gene

Entrez Gene Summary for NDUFA6 Gene

  • This gene encodes a member of the LYR family of proteins that contain a highly conserved tripeptide (LYR) motif near the N-terminus. The encoded protein is an accessory subunit of NADH: ubiquinone oxidorerductase (Complex I), which is the largest enzyme of the mitochondrial membrane respiratory chain. Complex I functions in electron transfer from NADH to the respiratory chain. [provided by RefSeq, Oct 2016]

GeneCards Summary for NDUFA6 Gene

NDUFA6 (NADH:Ubiquinone Oxidoreductase Subunit A6) is a Protein Coding gene. Diseases associated with NDUFA6 include Korean Hemorrhagic Fever and Atrial Tachyarrhythmia With Short Pr Interval. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for NDUFA6 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not 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 NDUFA6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA6 Gene

Genomics for NDUFA6 Gene

Regulatory Elements for NDUFA6 Gene

Enhancers for NDUFA6 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
GH22G042088 1.4 FANTOM5 ENCODE 51.9 +0.7 675 3.1 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 YY1 SMDT1 CYP2D6 NDUFA6 PHF5A EP300 NAGA ENSG00000232754 NDUFA6-AS1 NFAM1 CENPM
GH22G041919 1.9 FANTOM5 Ensembl ENCODE dbSUPER 31.3 +166.7 166658 11.0 HDGF AGO1 WRNIP1 FEZF1 ZNF2 ZNF121 GLIS2 ZNF143 ZNF207 ZNF263 NDUFA6 SMDT1 TNFRSF13C CYP2D8P CSDC2 CENPM SHISA8 MIR378I
GH22G041918 1.5 Ensembl ENCODE dbSUPER 31.2 +172.7 172654 0.6 MLX ARID4B DMAP1 ZNF48 TCF12 ZNF121 SLC30A9 GLIS2 SP5 NFYC NDUFA6 SMDT1 GC22M041929 SHISA8
GH22G041897 1.2 ENCODE dbSUPER 31.1 +192.0 191957 2.4 ARID4B SIN3A ZNF48 SLC30A9 GLIS2 ZNF766 ZNF263 SP5 NFYC MXD4 NDUFA6 TNFRSF13C CYP2D6 CENPM SNU13 C22orf46 SMDT1 RNU6ATAC22P WBP2NL MIR33A
GH22G041961 0.9 ENCODE 31.2 +129.9 129864 0.2 ZNF493 ZFP64 ZEB1 ZNF302 ZNF138 SCRT2 ZNF654 SP3 ZNF680 ZNF426 EP300 RN7SKP80 RPL5P34 PHF5A NDUFA6 XRCC6 RRP7BP SNU13 WBP2NL ENSG00000232754
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFA6 on UCSC Golden Path with GeneCards custom track

Promoters for NDUFA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000146711 455 1801 HDGF PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B SIN3A ZNF2 YY1

Genomic Location for NDUFA6 Gene

Chromosome:
22
Start:
42,085,525 bp from pter
End:
42,090,955 bp from pter
Size:
5,431 bases
Orientation:
Minus strand

Genomic View for NDUFA6 Gene

Genes around NDUFA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA6 Gene

Proteins for NDUFA6 Gene

  • Protein details for NDUFA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56556-NDUA6_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 6
    Protein Accession:
    P56556
    Secondary Accessions:
    • B2RE54
    • O43675
    • Q6FGW0
    • Q6IBT8
    • Q6IC39

    Protein attributes for NDUFA6 Gene

    Size:
    154 amino acids
    Molecular mass:
    17871 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits.
    SequenceCaution:
    • Sequence=AAC04267.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF84563.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAG38151.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW60489.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for NDUFA6 Gene

Post-translational modifications for NDUFA6 Gene

  • Ubiquitination at Lys44, Lys142, and posLast=147147
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA6 Gene

No data available for DME Specific Peptides for NDUFA6 Gene

Domains & Families for NDUFA6 Gene

Protein Domains for NDUFA6 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P56556

UniProtKB/Swiss-Prot:

NDUA6_HUMAN :
  • Belongs to the complex I LYR family.
Family:
  • Belongs to the complex I LYR family.
genes like me logo Genes that share domains with NDUFA6: view

Function for NDUFA6 Gene

Molecular function for NDUFA6 Gene

GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),14kDa,component alpha 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 to be not 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 Ontology (GO) - Molecular Function for NDUFA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9878551
genes like me logo Genes that share ontologies with NDUFA6: view
genes like me logo Genes that share phenotypes with NDUFA6: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA6 Gene

Localization for NDUFA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA6 Gene

Mitochondrion inner membrane; Peripheral 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 NDUFA6 gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NDUFA6 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:0031966 mitochondrial membrane IDA 17209039
GO:0070469 respiratory chain IEA --
genes like me logo Genes that share ontologies with NDUFA6: view

Pathways & Interactions for NDUFA6 Gene

genes like me logo Genes that share pathways with NDUFA6: view

Gene Ontology (GO) - Biological Process for NDUFA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0006979 response to oxidative stress IDA 12857734
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFA6: view

No data available for SIGNOR curated interactions for NDUFA6 Gene

Drugs & Compounds for NDUFA6 Gene

(5) Drugs for NDUFA6 Gene - From: DrugBank and HMDB

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

(3) Additional Compounds for NDUFA6 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 NDUFA6: view

Transcripts for NDUFA6 Gene

Unigene Clusters for NDUFA6 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA6 Gene

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

Relevant External Links for NDUFA6 Gene

GeneLoc Exon Structure for
NDUFA6
ECgene alternative splicing isoforms for
NDUFA6

Expression for NDUFA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFA6 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.1).

Protein differential expression in normal tissues from HIPED for NDUFA6 Gene

This gene is overexpressed in Brain (12.9), Heart (12.8), and Frontal cortex (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NDUFA6 Gene



Protein tissue co-expression partners for NDUFA6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFA6 Gene:

NDUFA6

SOURCE GeneReport for Unigene cluster for NDUFA6 Gene:

Hs.274416

Evidence on tissue expression from TISSUES for NDUFA6 Gene

  • Muscle(4.5)
  • Heart(4.4)
  • Nervous system(3.8)
  • Adrenal gland(2.4)
  • Blood(2.4)
  • Intestine(2.4)
  • Skin(2.3)
  • Kidney(2.2)
  • Liver(2.2)
  • Bone marrow(2.1)
  • Lymph node(2.1)
  • Spleen(2)
genes like me logo Genes that share expression patterns with NDUFA6: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA6 Gene

Orthologs for NDUFA6 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDUFA6 35 34
  • 99.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFA6 34 35
  • 90.89 (n)
mouse
(Mus musculus)
Mammalia Ndufa6 34 16 35
  • 87.93 (n)
rat
(Rattus norvegicus)
Mammalia Ndufa6 34
  • 87.66 (n)
dog
(Canis familiaris)
Mammalia NDUFA6 34 35
  • 86.39 (n)
oppossum
(Monodelphis domestica)
Mammalia NDUFA6 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA6 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA6 34
  • 77.98 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFA6 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa6 34
  • 69.03 (n)
Str.2078 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.10186 34
zebrafish
(Danio rerio)
Actinopterygii ndufa6 34 35
  • 69.01 (n)
zgc56717 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012533 34
  • 56.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7712 36 34 35
  • 56.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4860 35
  • 41 (a)
OneToOne
Species where no ortholog for NDUFA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 NDUFA6 Gene

ENSEMBL:
Gene Tree for NDUFA6 (if available)
TreeFam:
Gene Tree for NDUFA6 (if available)

Paralogs for NDUFA6 Gene

No data available for Paralogs for NDUFA6 Gene

Variants for NDUFA6 Gene

Sequence variations from dbSNP and Humsavar for NDUFA6 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1801311 --

Structural Variations from Database of Genomic Variants (DGV) for NDUFA6 Gene

Variant ID Type Subtype PubMed ID
nsv508737 CNV insertion 20534489
nsv834210 CNV loss 17160897

Variation tolerance for NDUFA6 Gene

Residual Variation Intolerance Score: 62.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.45; 85.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFA6 Gene

Human Gene Mutation Database (HGMD)
NDUFA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA6 Gene

Disorders for NDUFA6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NDUFA6 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
korean hemorrhagic fever
  • hemorrhagic fever with renal syndrome
atrial tachyarrhythmia with short pr interval
  • lown-ganong-levine syndrome
bird fancier's lung
  • avian hypersensitivity pneumonitis
tetanus neonatorum
  • neonatal tetanus
alzheimer's disease 14
  • ad14
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFA6

Genetic Association Database (GAD)
NDUFA6
Human Genome Epidemiology (HuGE) Navigator
NDUFA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA6
genes like me logo Genes that share disorders with NDUFA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFA6 Gene

Publications for NDUFA6 Gene

  1. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PMID: 9425316) Ton C. … Liew C.-C. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X. … Wu X. (Carcinogenesis 2010) 3 46 64
  4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 46 64
  5. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PMID: 18977241) Starr J.M. … Deary I.J. (Mech. Ageing Dev. 2008) 3 46 64

Products for NDUFA6 Gene

Sources for NDUFA6 Gene

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