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Aliases for MT-ND6 Gene

Aliases for MT-ND6 Gene

  • Mitochondrially Encoded NADH Dehydrogenase 6 2
  • NADH Dehydrogenase Subunit 6 3 4
  • EC 1.6.5.3 4 63
  • MTND6 3 4
  • ND6 3 4
  • 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 Dehydrogenase 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 Metabolism.

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

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

Genomic View for MT-ND6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

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:
Reactome Protein details:

Domains for MT-ND6 Gene

Gene Families for MT-ND6 Gene

HGNC:
  • comI :Mitochondrial respiratory chain complex / Complex I

Protein Domains for MT-ND6 Gene

Suggested Antigen Peptide Sequences for MT-ND6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P03923

UniProtKB/Swiss-Prot:

NU6M_HUMAN :
  • P03923
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

Gene Ontology (GO) - Molecular Function for MT-ND6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity --
genes like me logo Genes that share ontologies with MT-ND6: view
genes like me logo Genes that share phenotypes with MT-ND6: view

No data available for Animal Models , Transcription Factor Targeting 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
lysosome 1

Gene Ontology (GO) - Cellular Components for MT-ND6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane --
GO:0016021 integral component of membrane --
GO:0070469 respiratory chain --
genes like me logo Genes that share ontologies with MT-ND6: view

Pathways 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:0022904 respiratory electron transport chain --
GO:0044237 cellular metabolic process --
GO:0044281 small molecule metabolic process --
GO:0055114 oxidation-reduction process --
genes like me logo Genes that share ontologies with MT-ND6: view

Compounds for MT-ND6 Gene

(9) HMDB Compounds for MT-ND6 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Iron
  • Armco iron
7439-89-6
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
QH2
  • CoQH2
56275-39-9

(1) Drugbank Compounds for MT-ND6 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(9) Novoseek inferred chemical compound relationships for MT-ND6 Gene

Compound -log(P) Hits PubMed IDs
nadh 76.4 21
isoleucine 46.5 1
valine 45.4 3
rotenone 37.7 1
methionine 27.1 1
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 :

miRNA Products

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MT-ND6

Flow Cytometry Products

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MT-ND6 Gene

genes like me logo Genes that share expressions 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 and mRNA Expression by UniProt/SwissProt 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 16
mt-Nd6 36
  • 53 (a)
OneToOne
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

Selected 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 MAF
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 and Structural Variations from Database of Genomic Variants (DGV) for MT-ND6 Gene

Disorders for MT-ND6 Gene

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.

(2) University of Copenhagen DISEASES for MT-ND6 Gene

(3) Novoseek inferred disease relationships for MT-ND6 Gene

Disease -log(P) Hits PubMed IDs
lebers hereditary optic neuropathy 90.7 9
leigh syndrome 73.1 3
optic neuropathy 42.6 1

Relevant External Links for MT-ND6

GeneTests
MT-ND6
GeneReviews
MT-ND6
Genetic Association Database (GAD)
MT-ND6
genes like me logo Genes that share disorders with MT-ND6: view

Publications for MT-ND6 Gene

  1. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. (PMID: 8016139) Jun A.S. … Wallace D.C. (Proc. Natl. Acad. Sci. U.S.A. 1994) 4 23
  2. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. (PMID: 8644732) de Vries D.D. … van Oost B.A. (Am. J. Hum. Genet. 1996) 4 23
  3. An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. (PMID: 11781695) Ravn K. … Schwartz M. (Eur. J. Hum. Genet. 2001) 4 23
  4. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. (PMID: 14595656) Ugalde C. … Nijtmans L.G. (Ann. Neurol. 2003) 4 23
  5. Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. (PMID: 10447650) Besch D. … Wissinger B. (Graefes Arch. Clin. Exp. Ophthalmol. 1999) 4 23

Products for MT-ND6 Gene

  • antibodies-online peptides for MT-ND6
  • antibodies-online antibodies for MT-ND6
  • antibodies-online kits for MT-ND6

Sources for MT-ND6 Gene

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