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. ... See more...

Aliases for NDUFA6 Gene

Aliases for NDUFA6 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A6 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 6 3 4
  • 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-Ubiquinone Oxidoreductase 1 Alpha Subcomplex, 6 3
  • Complex I B14 Subunit 2
  • MC1DN33 3
  • 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 Mitochondrial Complex I Deficiency, Nuclear Type 33 and Mitochondrial Disorders. 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 NDUFA6 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Required for proper complex I assembly (PubMed:30245030). 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

Additional gene information for NDUFA6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFA6 Gene

Genomics for NDUFA6 Gene

GeneHancer (GH) Regulatory Elements for NDUFA6 Gene

Promoters and enhancers for NDUFA6 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
GH22J042088 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 551.9 +0.6 604 3.1 RXRA EP300 FOXK2 ZBTB40 CTCF SIN3A TCF12 NRF1 USF1 POLR2G NDUFA6 NDUFA6-DT ENSG00000270083 SMDT1 CYP2D6 NFAM1 CENPM CCDC134
GH22J042092 Promoter 0.4 Ensembl 500.7 -1.3 -1316 0.4 CHD4 NDUFA6 NDUFA6-DT piR-57133-399 SMDT1 CYP2D6 NAGA NFAM1 CENPM TCF20
GH22J041918 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 31.3 +166.5 166485 10.8 RXRA HNRNPK CTCF SIN3A USF1 SP1 ZIC2 POLR2A ZBTB10 ZBTB26 TNFRSF13C MIR378I lnc-TNFRSF13C-1 NDUFA6 SMDT1 CYP2D8P CSDC2 CENPM SHISA8 HSALNG0135671
GH22J042176 Enhancer 1.2 FANTOM5 Ensembl ENCODE 43.7 -90.2 -90239 9.4 EP300 RELA MYC CTBP1 TRIM22 NCOR1 ZNF316 NFIC ZBTB17 ZNF384 CYP2D6 NDUFA6 TCF20 DESI1 CSDC2 CYP2D7 SMDT1 ENSG00000232710 NFAM1 NDUFA6-DT
GH22J042227 Enhancer 0.9 Ensembl ENCODE 49.4 -135.5 -135517 8.8 ZSCAN5C CREB1 FOXA2 MXI1 NR2C1 BATF ELF1 IRF4 IKZF1 NR2F1 NDUFA6 CYP2D6 SMDT1 PHETA2 NFAM1 CYP2D7 ENSG00000232710 NDUFA6-DT CENPM NAGA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFA6

Top Transcription factor binding sites by QIAGEN in the NDUFA6 gene promoter:
  • AREB6
  • Cart-1
  • Evi-1
  • FOXD3
  • GATA-1
  • GR
  • GR-alpha
  • HNF-4alpha1
  • HNF-4alpha2
  • POU6F1 (c2)

Genomic Locations for NDUFA6 Gene

Genomic Locations for NDUFA6 Gene
chr22:42,085,526-42,090,884
(GRCh38/hg38)
Size:
5,359 bases
Orientation:
Minus strand
chr22:42,481,529-42,486,959
(GRCh37/hg19)
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:
    128 amino acids
    Molecular mass:
    15137 Da
    Quaternary structure:
    • Mammalian complex I is composed of 45 different subunits.
    SequenceCaution:
    • Sequence=CAG30415.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NDUFA6 Gene

neXtProt entry for NDUFA6 Gene

Post-translational modifications for NDUFA6 Gene

  • Ubiquitination at Lys18, Lys116, and Lys121
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA6 Gene

Domains & Families for NDUFA6 Gene

Gene Families for NDUFA6 Gene

Protein Domains for NDUFA6 Gene

Blocks:
  • Complex 1 LYR protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA6 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase B14 subunit (NDUA6_HUMAN)

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

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. Required for proper complex I assembly (PubMed:30245030). 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),14kDa,component alpha 6,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

Phenotypes From GWAS Catalog for NDUFA6 Gene

Gene Ontology (GO) - Molecular Function for NDUFA6 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 NDUFA6: view
genes like me logo Genes that share phenotypes with NDUFA6: view

Human Phenotype Ontology for NDUFA6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA6

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NDUFA6 Gene

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 IBA,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

(6) Drugs for NDUFA6 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 NDUFA6 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 NDUFA6: view

Transcripts for NDUFA6 Gene

mRNA/cDNA for NDUFA6 Gene

1 REFSEQ mRNAs :
8 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 NDUFA6

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

Expression for NDUFA6 Gene

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



Protein tissue co-expression partners for NDUFA6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFA6

SOURCE GeneReport for Unigene cluster for NDUFA6 Gene:

Hs.274416

Evidence on tissue expression from TISSUES for NDUFA6 Gene

  • Heart(4.5)
  • Muscle(4.5)
  • 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

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 31 30
  • 99.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFA6 31 30
  • 90.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufa6 17 31 30
  • 87.93 (n)
rat
(Rattus norvegicus)
Mammalia Ndufa6 30
  • 87.66 (n)
dog
(Canis familiaris)
Mammalia NDUFA6 31 30
  • 86.39 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFA6 31
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA6 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA6 30
  • 77.98 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFA6 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa6 30
  • 69.03 (n)
Str.2078 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10186 30
zebrafish
(Danio rerio)
Actinopterygii ndufa6 31 30
  • 69.01 (n)
OneToOne
zgc56717 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012533 30
  • 56.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7712 31 32 30
  • 56.01 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4860 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA6: view image

Paralogs for NDUFA6 Gene

No data available for Paralogs for NDUFA6 Gene

Variants for NDUFA6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFA6 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs1023075742 Pathogenic: Mitochondrial diseases; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 42,090,742(-) C/T INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT
rs113437301 Likely Benign: not specified 42,086,248(-) G/A MISSENSE_VARIANT
rs1569463838 Pathogenic: Mitochondrial diseases; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 42,086,237(-) TTC/T FRAMESHIFT_VARIANT
rs750830935 Pathogenic: Mitochondrial diseases; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 42,087,124(-) C/G MISSENSE_VARIANT
rs758833609 Pathogenic: Mitochondrial diseases; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33 42,086,305(-) C/A NONSENSE

Additional dbSNP identifiers (rs#s) for NDUFA6 Gene

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)

Additional Variant Information 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

(12) MalaCards diseases for NDUFA6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUA6_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 33 (MC1DN33) [MIM:618253]: 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. MC1DN33 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:30245030}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NDUFA6

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 NDUFA6: view

No data available for 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 CC (Biochemical and biophysical research communications 1997) 2 3 4 54
  2. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. (PMID: 30245030) Alston CL … Taylor RW (American journal of human genetics 2018) 3 4 54
  3. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. 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 41 54

Products for NDUFA6 Gene

Sources for NDUFA6 Gene