MT-ND3 Gene
protein-coding GIFtS: 44
GCID: GCMTP010061
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mitochondrially encoded NADH dehydrogenase 3(Previous name: NADH dehydrogenase 3 )
(Previous symbol: MTND3)
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Aliases
for MT-ND3 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 31 | | NAD31 | | MTND31 2 3 | | NADH Dehydrogenase 31 | | ND31 2 3 | | NADH Dehydrogenase, Subunit 3 (Complex I)2 | | NADH Dehydrogenase Subunit 32 3 | | NADH33 | | EC 1.6.5.33 8 | | |
Export aliases for MT-ND3 gene to outside databasesPrevious GC identifer: GC00U921589 |
Summaries
for MT-ND3 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: NU3M_HUMAN, P03897Function: 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-ND3
|
Genomic Views
for MT-ND3 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-ND3
Other transcription factors
Search SABiosciences Chromatin IP Primers for MT-ND3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND3 |
Genomic Location:
Chromosome:MT
Ensembl cytogenetic band: MT HGNC chromosome: mitochondriaGeneLoc information about chromosome MT GeneLoc Exon Structure GeneLoc location for GCMTP010061: view genomic region
(about GC identifiers)
Start:
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10,059 bp from pter |
End:
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10,404 bp from pter |
Size:
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346 bases |
Orientation:
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plus strand |
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Proteins
for MT-ND3 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: NU3M_HUMAN, P03897 (See
protein sequence)Recommended Name: NADH-ubiquinone oxidoreductase chain 3 Size: 115 amino acids; 13186 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein (By similarity)Explore the universe of human proteins at neXtProt for MT-ND3: NX_P03897
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P03897
4 DME Specific Peptides for MT-ND3 (P03897)
MT-ND3 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000355206 Reactome Protein details: P03897
Human Recombinant Protein Products for MT-ND3:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
MT-ND3 for ontologies About GeneDecksing
MT-ND3 Antibody Products:
Assay Products for MT-ND3: |
Protein
Domains /
Families
for MT-ND3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
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MT-ND3 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P03897ProtoNet protein and cluster: P03897 1 Blocks protein family: IPB000440 NADH-ubiquinone/plastoquinone oxidoreductase
UniProtKB/Swiss-Prot: NU3M_HUMAN, P03897Similarity: Belongs to the complex I subunit 3 family |
Function
for MT-ND3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
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Molecular Function:
UniProtKB/Swiss-Prot Summary: NU3M_HUMAN, P03897Function: 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(+) + ubiquinol Enzyme Number (IUBMB): EC 1.6.5.31 2
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
MT-ND3 for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for MT-ND3:
Animal Models:
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Pathways & Interactions
for MT-ND3 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
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Unified GeneCards pathways About this table 
See pathways by source
| Super-pathway | contained gene-specific pathways |
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| 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-ND3
4 
Reactome Pathways for MT-ND3
3 
Kegg Pathways (Kegg details for MT-ND3):
MT-ND3 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-ND3
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/58 Interacting proteins for MT-ND3 (P038971 ENSP000003552064) via UniProtKB, MINT, STRING, and/or I2D (see all 58)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0006120 | mitochondrial electron transport, NADH to ubiquinone |
NAS | 3921850 | | GO:0006979 | response to oxidative stress |
-- | -- | | GO:0009642 | response to light intensity |
-- | -- | | GO:0009725 | response to hormone stimulus |
-- | -- | | GO:0022904 | respiratory electron transport chain |
TAS | -- |
MT-ND3 for ontologies About GeneDecksing
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Drugs & Compounds
for MT-ND3 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
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MT-ND3 for compounds About GeneDecksing
 Browse Tocris compounds for MT-ND3
4 HMDB Compounds for MT-ND3 About this table
1 DrugBank Compound for MT-ND3 About this table
6 Novoseek chemical compound relationships for MT-ND3 gene About this table
Search CenterWatch for drugs/clinical trials and news about MT-ND3 / NU3M
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Transcripts
for MT-ND3 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,
Sirion Biotech,
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
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1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000361227(uc022bqu.1)
GeneLoc Exon Structure
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Expression
for MT-ND3 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-ND3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See MT-ND3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MT-ND3
SABiosciences Custom PCR Arrays for MT-ND3
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MT-ND3 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND3 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND3 |
Orthologs
for MT-ND3 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
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This gene was present in the last universal common ancestor (LUCA).
Orthologs for MT-ND3 gene from 7/18 species (see all 18) About this table
ENSEMBL Gene Tree for MT-ND3 (if available)
TreeFam Gene Tree for MT-ND3 (if available) |
Paralogs
for MT-ND3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MT-ND3 gene
3 SIMAP similar genes for MT-ND3 using alignment to 1 protein entry: NU3M_HUMAN:AD 1 NADH3 ND3
MT-ND3 for paralogs About GeneDecksing
5/16 Pseudogenes.org Pseudogenes for MT-ND3 (see all 16)
PGOHUM00000242816 PGOHUM00000247125 PGOHUM00000248719 PGOHUM00000244489 PGOHUM00000240318
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Genomic Variants
for MT-ND3 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
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Human Gene Mutation Database (HGMD): MT-ND3
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for MT-ND3 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-ND3 for disorders About GeneDecksing
OMIM gene information: 516002
OMIM disorders: --
UniProtKB/Swiss-Prot: NU3M_HUMAN, P03897
Defects in MT-ND3 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disordercharacterized by bilaterally symmetrical necrotic lesions in subcortical brain regions Defects in MT-ND3 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 disorders, 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
20/23  diseases for MT-ND3 (see all 23): About MalaCardsmitochondrial dna-associated leigh syndrome and narp sudden infant death syndrome leber hereditary optic neuropathy mitochondrial complex i deficiency
glucose intolerance insulin resistance renal oncocytoma spinocerebellar ataxia
leigh disease renal cell carcinoma leukodystrophy bipolar disorder
neuropathy parkinson's disease ataxia esophageal cancer
esophagitis colorectal cancer breast cancer tuberculosis
1 disease from the University of Copenhagen DISEASES database for MT-ND3:Sparganosis 3 Novoseek disease relationships for MT-ND3 gene About this table
GeneTests: MT-ND3
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Genetic Association Database (GAD): MT-ND3
Export disorders for MT-ND3 gene to outside databases
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Publications
for MT-ND3 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-ND3 gene, integrated from 9 sources (see all 65):
(articles sorted by number of sources associating them with MT-ND3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. (PubMed id 17152068)1, 2, 9 Sarzi E....Procaccio V. (2007)
- Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. (PubMed id 15975594)1, 4 Huerta C....Alvarez V. (2005)
- Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women. (PubMed id 16140977)1, 4 Canter J.A....Millikan R.C. (2005)
- Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. (PubMed id 15827561)1, 4 Ghezzi D....Zeviani M. (2005)
- Mitochondrial DNA polymorphisms and extraversion. (PubMed id 15211636)1, 4 Kato C....Sasaki T. (2004)
- The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
- Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder. (PubMed id 14604458)1, 4 Washizuka S....Kato T. (2003)
- Polymorphisms in the coding region of mtDNA and effects on clinical outcome of unrelated bone marrow transplantation. (PubMed id 11607774)1, 4 Ishikawa Y....Juji T. (2001)
- Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. (PubMed id 3921850)1, 2 Chomyn A.... Attardi G. (1985)
- Sequence and organization of the human mitochondrial genome. (PubMed id 7219534)1, 2 Anderson S.... Young I.G. (1981)
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External Searches for MT-ND3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing MT-ND3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing MT-ND3 gene
(According to HUGE)
About This Section
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Specialized Databases showing MT-ND3 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
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| Name | Description |
| PharmGKB entry for MT-ND3 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-ND3 |
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About This Section
| Patent Information for MT-ND3 gene:
Search GeneIP for patents involving MT-ND3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MT-ND3 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MT-ND3 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-ND3 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND3 | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MT-ND3 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND3 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND3 |
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| | | | Search Tocris compounds for MT-ND3 |
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 | | | MT-ND3 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  |  | | | | Search ThermoFisher Antibodies for MT-ND3 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MT-ND3 |
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