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Aliases for MT-ND6 Gene

Aliases for MT-ND6 Gene

  • Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6 2 5
  • NADH Dehydrogenase Subunit 6 3 4
  • EC 1.6.5.3 4 63
  • MTND6 3 4
  • ND6 3 4
  • Mitochondrially Encoded NADH Dehydrogenase 6 2
  • NADH Dehydrogenase, Subunit 6 (Complex I) 3
  • NADH-Ubiquinone Oxidoreductase Chain 6 2
  • Complex I ND6 Subunit 2
  • NADH Dehydrogenase 6 2
  • NADH6 4

External Ids for MT-ND6 Gene

Previous HGNC Symbols for MT-ND6 Gene

  • MTND6

Previous GeneCards Identifiers for MT-ND6 Gene

  • GC00U921593

Summaries for MT-ND6 Gene

GeneCards Summary for MT-ND6 Gene

MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6) is a Protein Coding gene. Diseases associated with MT-ND6 include melas syndrome and leber hereditary optic neuropathy with dystonia. 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 MT-ND6 Gene

  • Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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 (By similarity).

Gene Wiki entry for MT-ND6 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-ND6 Gene

Genomics for MT-ND6 Gene

Genomic Location for MT-ND6 Gene

Chromosome:
MT
Start:
14,149 bp from pter
End:
14,673 bp from pter
Size:
525 bases
Orientation:
Minus strand

Genomic View for MT-ND6 Gene

Genes around MT-ND6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-ND6 Gene

No data available for Regulatory Elements for MT-ND6 Gene

Proteins for MT-ND6 Gene

  • Protein details for MT-ND6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03923-NU6M_HUMAN
    Recommended name:
    NADH-ubiquinone oxidoreductase chain 6
    Protein Accession:
    P03923
    Secondary Accessions:
    • Q34774
    • Q8HG30

    Protein attributes for MT-ND6 Gene

    Size:
    174 amino acids
    Molecular mass:
    18622 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MT-ND6 Gene

Proteomics data for MT-ND6 Gene at MOPED

Selected DME Specific Peptides for MT-ND6 Gene

Post-translational modifications for MT-ND6 Gene

No Post-translational modifications

Other Protein References for MT-ND6 Gene

ENSEMBL proteins:

Domains & Families for MT-ND6 Gene

Gene Families for MT-ND6 Gene

Protein Domains for MT-ND6 Gene

Graphical View of Domain Structure for InterPro Entry

P03923

UniProtKB/Swiss-Prot:

NU6M_HUMAN :
  • Belongs to the complex I subunit 6 family.
Family:
  • Belongs to the complex I subunit 6 family.
genes like me logo Genes that share domains with MT-ND6: view

Function for MT-ND6 Gene

Molecular function for MT-ND6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out).
UniProtKB/Swiss-Prot Function:
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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 (By similarity).

Enzyme Numbers (IUBMB) for MT-ND6 Gene

genes like me logo Genes that share phenotypes with MT-ND6: view

Human Phenotype Ontology for MT-ND6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for MT-ND6 Gene

Localization for MT-ND6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-ND6 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MT-ND6 Gene COMPARTMENTS Subcellular localization image for MT-ND6 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 2
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for MT-ND6 Gene

Pathways & Interactions for MT-ND6 Gene

genes like me logo Genes that share pathways with MT-ND6: view

Interacting Proteins for MT-ND6 Gene

Gene Ontology (GO) - Biological Process for MT-ND6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035094 response to nicotine IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MT-ND6: view

No data available for SIGNOR curated interactions for MT-ND6 Gene

Drugs & Compounds for MT-ND6 Gene

(12) Drugs for MT-ND6 Gene - From: Novoseek, 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

(7) Additional Compounds for MT-ND6 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
genes like me logo Genes that share compounds with MT-ND6: view

Transcripts for MT-ND6 Gene

mRNA/cDNA for MT-ND6 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MT-ND6 Gene

No ASD Table

Relevant External Links for MT-ND6 Gene

GeneLoc Exon Structure for
MT-ND6
ECgene alternative splicing isoforms for
MT-ND6

Expression for MT-ND6 Gene

mRNA expression in normal human tissues for MT-ND6 Gene

Protein differential expression in normal tissues from HIPED for MT-ND6 Gene

This gene is overexpressed in Adipocyte (13.9), Heart (12.7), and Blymphocyte (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MT-ND6 Gene



genes like me logo Genes that share expression patterns with MT-ND6: view

In Situ Assay 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 Protein tissue co-expression partners for MT-ND6 Gene

Orthologs for MT-ND6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MT-ND6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MT-ND6 36
  • 96 (a)
OneToOne
ND6 35
  • 90.42 (n)
  • 92.53 (a)
cow
(Bos Taurus)
Mammalia ND6 35
  • 65.52 (n)
  • 60.34 (a)
ND6 36
  • 61 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MT-ND6 36
  • 57 (a)
OneToOne
ND6 35
  • 64.75 (n)
  • 55.17 (a)
mouse
(Mus musculus)
Mammalia mt-Nd6 36
  • 53 (a)
OneToOne
mt-Nd6 16
ND6 35
  • 63.47 (n)
  • 52.1 (a)
oppossum
(Monodelphis domestica)
Mammalia NADH6 36
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MT-ND6 36
  • 43 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia ND6 35
  • 62.67 (n)
  • 51.5 (a)
chicken
(Gallus gallus)
Aves MT-ND6 36
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 32 (a)
OneToMany
ND6 36
  • 32 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii mt-nd6 36
  • 33 (a)
OneToOne
Species with no ortholog for MT-ND6:
  • 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 squirt (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MT-ND6 Gene

ENSEMBL:
Gene Tree for MT-ND6 (if available)
TreeFam:
Gene Tree for MT-ND6 (if available)

Paralogs for MT-ND6 Gene

(2) SIMAP similar genes for MT-ND6 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MT-ND6: view

No data available for Paralogs for MT-ND6 Gene

Variants for MT-ND6 Gene

Sequence variations from dbSNP and Humsavar for MT-ND6 Gene

SNP ID Clin Chr MT pos Sequence Context AA Info Type
VAR_004763 Leber hereditary optic neuropathy (LHON)
VAR_004764 Leber hereditary optic neuropathy with dystonia (LDYT)
VAR_004764 Mitochondrial complex I deficiency (MT-C1D)
VAR_008394 Leber hereditary optic neuropathy with dystonia (LDYT)
VAR_008395 Leber hereditary optic neuropathy (LHON)

Relevant External Links for MT-ND6 Gene

HapMap Linkage Disequilibrium report
MT-ND6
Human Gene Mutation Database (HGMD)
MT-ND6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-ND6 Gene

Disorders for MT-ND6 Gene

MalaCards: The human disease database

(21) MalaCards diseases for MT-ND6 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
melas syndrome
  • mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
leber hereditary optic neuropathy with dystonia
  • dystonia familial, with visual failure and striatal lucencies
leber hereditary optic neuropathy
  • leber's hereditary optic neuropathy
oxyphilic adenoma
  • follicular adenoma, oxyphilic cell
mitochondrial dna-associated leigh syndrome
  • leigh disease, maternally inherited
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU6M_HUMAN
  • Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269 PubMed:10447650, ECO:0000269 PubMed:11133798, ECO:0000269 PubMed:1417830, ECO:0000269 PubMed:8854108, ECO:0000269 PubMed:9452107}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]: Part of a spectrum of Leber hereditary optic neuropathy. It is characterized by the association of optic atrophy and central vision loss with dystonia. {ECO:0000269 PubMed:8016139, ECO:0000269 PubMed:8644732}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. {ECO:0000269 PubMed:11781695}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. {ECO:0000269 PubMed:14595656, ECO:0000269 PubMed:20818383}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MT-ND6

Genetic Association Database (GAD)
MT-ND6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MT-ND6
genes like me logo Genes that share disorders with MT-ND6: view

No data available for Genatlas for MT-ND6 Gene

Publications for MT-ND6 Gene

  1. Mitochondrial D-loop variation in leber hereditary neuropathy patients harboring primary G11778A, G3460A, T14484C mutations: J and W haplogroups as high-risk factors. (PMID: 17045122) Shafa Shariat Panahi M. … Tabassi A.R. (Arch. Med. Res. 2006) 3 48 67
  2. T14484C and T14502C in the mitochondrial ND6 gene are associated with Leber's hereditary optic neuropathy in a Chinese family. (PMID: 18440284) Zhang S. … Liu M. (Mitochondrion 2008) 3 23
  3. A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family. (PMID: 15922297) Zhadanov S.I. … Schurr T.G. (Biochem. Biophys. Res. Commun. 2005) 3 23
  4. Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA. (PMID: 16337195) Gonzalo R. … Andreu A.L. (FEBS Lett. 2005) 3 23
  5. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3

Products for MT-ND6 Gene

Sources for MT-ND6 Gene

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