MT-ND6 Gene
protein-coding GIFtS: 43
GCID: GCMTM014151
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|
mitochondrially encoded NADH dehydrogenase 6(Previous name: NADH dehydrogenase 6 )
(Previous symbol: MTND6)
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Aliases
for MT-ND6 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mitochondrially Encoded NADH Dehydrogenase 61 | | NAD61 | | MTND61 2 3 | | NADH Dehydrogenase 61 | | ND61 2 3 | | NADH Dehydrogenase, Subunit 6 (Complex I)2 | | NADH Dehydrogenase Subunit 62 3 | | NADH63 | | EC 1.6.5.33 8 | | |
Export aliases for MT-ND6 gene to outside databasesPrevious GC identifer: GC00U921593 |
Summaries
for MT-ND6 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: NU6M_HUMAN, P03923Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believedto belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADHto the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)
Gene Wiki entry for MT-ND6
|
Genomic Views
for MT-ND6 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for MT-ND6
Other transcription factors
Search SABiosciences Chromatin IP Primers for MT-ND6
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND6 |
Genomic Location:
Chromosome:MT
Ensembl cytogenetic band: MT HGNC chromosome: mitochondriaGeneLoc information about chromosome MT GeneLoc Exon Structure GeneLoc location for GCMTM014151: view genomic region
(about GC identifiers)
Start:
|
14,149 bp from pter |
End:
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14,673 bp from pter |
Size:
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525 bases |
Orientation:
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minus strand |
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Proteins
for MT-ND6 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NU6M_HUMAN, P03923 (See
protein sequence)Recommended Name: NADH-ubiquinone oxidoreductase chain 6 Size: 174 amino acids; 18622 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q34774 Q8HG30Explore the universe of human proteins at neXtProt for MT-ND6: NX_P03923
4/7 DME Specific Peptides for MT-ND6 (P03923) (see all 7)
MT-ND6 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000354665 Reactome Protein details: P03923
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005739 | mitochondrion |
-- | -- | | GO:0005743 | mitochondrial inner membrane |
TAS | -- | | GO:0005747 | mitochondrial respiratory chain complex I |
NAS | -- | | GO:0016021 | integral to membrane |
IEA | -- |
MT-ND6 for ontologies About GeneDecksing
MT-ND6 Antibody Products:
Assay Products for MT-ND6: |
Protein
Domains /
Families
for MT-ND6 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MT-ND6 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P03923ProtoNet protein and cluster: P03923 1 Blocks protein family: IPB001457 NADH-ubiquinone/plastoquinone oxidoreductase
UniProtKB/Swiss-Prot: NU6M_HUMAN, P03923Similarity: Belongs to the complex I subunit 6 family |
Function
for MT-ND6 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NU6M_HUMAN, P03923Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believedto belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADHto the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)Catalytic activity: NADH + ubiquinone = NAD(+) + ubiquinolEnzyme Number (IUBMB): EC 1.6.5.31 2
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008137 | NADH dehydrogenase (ubiquinone) activity |
NAS | -- |
MT-ND6 for ontologies About GeneDecksing
Animal Models:
5 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for mt-Nd6):
MT-ND6 for phenotypes About GeneDecksing
|
Pathways & Interactions
for MT-ND6 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table 
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  BioSystems Pathways for MT-ND6
4 
Reactome Pathways for MT-ND6
3 
Kegg Pathways (Kegg details for MT-ND6):
MT-ND6 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-ND6
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/56 Interacting proteins for MT-ND6 (P039233 ENSP000003546654) via UniProtKB, MINT, STRING, and/or I2D (see all 56)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006120 | mitochondrial electron transport, NADH to ubiquinone |
NAS | -- | | GO:0022904 | respiratory electron transport chain |
TAS | -- | | GO:0042542 | response to hydrogen peroxide |
-- | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
MT-ND6 for ontologies About GeneDecksing
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Drugs & Compounds
for MT-ND6 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MT-ND6 for compounds About GeneDecksing
 Browse Tocris compounds for MT-ND6
9 HMDB Compounds for MT-ND6 About this table
1 DrugBank Compound for MT-ND6 About this table
9 Novoseek chemical compound relationships for MT-ND6 gene About this table
Search CenterWatch for drugs/clinical trials and news about MT-ND6 / NU6M
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Transcripts
for MT-ND6 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000361681
GeneLoc Exon Structure
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Expression
for MT-ND6 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MT-ND6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See MT-ND6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MT-ND6
SABiosciences Custom PCR Arrays for MT-ND6
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MT-ND6
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MT-ND6 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND6 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND6 |
Orthologs
for MT-ND6 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for MT-ND6 gene from 4/10 species (see all 10) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
mt-Nd65
ND61 |
mitochondrially encoded NADH dehydrogenase 65
NADH dehydrogenase subunit 61 |
63.47(n)1
52.1(a)1 |
|
MT5
177221 ND6_345386091 NP_904339.11
135525 |
chicken
(Gallus gallus) |
Aves |
ND61 |
NADH dehydrogenase subunit 6 |
57.41(n)
38.27(a) |
|
807640 ND6_5834856 NP_006927.1 |
lizard
(Anolis carolinensis) |
Reptilia |
B3GT01_ANOCA6 |
NADH dehydrogenase subunit 6 |
31(a) |
1 ↔ 1 |
AAWZ02037236(2089-2610) |
zebrafish
(Danio rerio) |
Actinopterygii |
ND61 |
NADH dehydrogenase subunit 6 |
52.56(n)
35.58(a) |
|
140536 ND6_8395623 NP_059342.1 |
ENSEMBL Gene Tree for MT-ND6 (if available)
TreeFam Gene Tree for MT-ND6 (if available) |
Paralogs
for MT-ND6 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MT-ND6 gene
2 SIMAP similar genes for MT-ND6 using alignment to 1 protein entry: NU6M_HUMAN:NADH6 ND6
MT-ND6 for paralogs About GeneDecksing
5/35 Pseudogenes.org Pseudogenes for MT-ND6 (see all 35)
PGOHUM00000242380 PGOHUM00000239391 PGOHUM00000248449 PGOHUM00000248466 PGOHUM00000247878
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Genomic Variants
for MT-ND6 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
Human Gene Mutation Database (HGMD): MT-ND6
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for MT-ND6 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MT-ND6 for disorders About GeneDecksing
OMIM gene information: 516006
OMIM disorders: --
UniProtKB/Swiss-Prot: NU6M_HUMAN, P03923
Defects in MT-ND6 are a cause of Leber hereditary optic neuropathy (LHON) [MIM:535000]. LHON is a maternallyinherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiacconduction defects and neurological defects have also been described in some patients. LHON results from primarymitochondrial DNA mutations affecting the respiratory chain complexes Defects in MT-ND6 are a cause of Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]; alsocalled familial dystonia with visual failure and striatal lucencies. LDYT is part of a spectrum of Leber hereditaryoptic neuropathy. It is characterized by the association of optic atrophy and central vision loss with dystonia Defects in MT-ND6 are a cause of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodessyndrome (MELAS) [MIM:540000]. MELAS is a genetically heterogenious disorder, characterized by episodic vomiting,seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or corticalblindness Defects in MT-ND6 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of themitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease toadult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specificencephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and someforms of Parkinson disease
20/33  diseases for MT-ND6 (see all 33): About MalaCardsleber hereditary optic neuropathy mitochondrial dna-associated leigh syndrome and narp kearns-sayre syndrome leber hereditary optic neuropathy with dystonia
open-angle glaucoma mitochondrial complex i deficiency mitochondrial encephalomyopathy lactic acidosis
sensorineural hearing loss hearing loss encephalomyopathy optic neuritis
cortical blindness familial dystonia melas syndrome neuropathy
optic atrophy neuritis glaucoma hereditary neuropathies
2 diseases from the University of Copenhagen DISEASES database for MT-ND6:Leber hereditary optic neuropathy MELAS syndrome 3 Novoseek disease relationships for MT-ND6 gene About this table
GeneTests: MT-ND6
Mitochondrial DNA-Associated Leigh Syndrome and NARPMitochondrial DisordersLeber Hereditary Optic Neuropathy
Genetic Association Database (GAD): MT-ND6
Export disorders for MT-ND6 gene to outside databases
|
Publications
for MT-ND6 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MT-ND6 gene, integrated from 9 sources (see all 107):
(articles sorted by number of sources associating them with MT-ND6) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- [Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients] (PubMed id 15952130)1, 4 Wang Y....Zhang Q.J. (2005)
- Association of the mitochondrial DNA haplogroup J with longevity is population specific. (PubMed id 15470367)1, 4 Dato S....De Benedictis G. (2004)
- Lack of association between Leber's hereditary optic neuropathy primary point mutations and multiple sclerosis in Iran. (PubMed id 14671420)1, 4 Houshmand M....Lotfi J. (2004)
- Sequence and organization of the human mitochondrial genome. (PubMed id 7219534)1, 2 Anderson S.... Young I.G. (1981)
- Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene. (PubMed id 10447650)2, 9 Besch D.... Wissinger B. (1999)
- Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA. (PubMed id 16337195)1, 9 Gonzalo R....Andreu A.L. (2005)
- Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. (PubMed id 14595656)2, 9 Ugalde C....Nijtmans L.G. (2003)
- The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. (PubMed id 11133798)2, 9 Chinnery P.F.... Howell N. (2001)
- An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. (PubMed id 11781695)2, 9 Ravn K.... Schwartz M. (2001)
- 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. (PubMed id 8016139)2, 9 Jun A.S.... Wallace D.C. (1994)
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External Searches for MT-ND6 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MT-ND6 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MT-ND6 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MT-ND6 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MT-ND6 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-ND6 |
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| | |
About This Section
| Patent Information for MT-ND6 gene:
Search GeneIP for patents involving MT-ND6
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MT-ND6 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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 |
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 |
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MT-ND6 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-ND6 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND6 | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MT-ND6 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND6 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND6 |
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 |  |  |  | |
| | | | Search Tocris compounds for MT-ND6 |
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 | | | MT-ND6 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for MT-ND6 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MT-ND6 |
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