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Aliases for MT-ND3 Gene

Aliases for MT-ND3 Gene

  • Mitochondrially Encoded NADH Dehydrogenase 3 2
  • NADH Dehydrogenase Subunit 3 3 4
  • EC 1.6.5.3 4 63
  • MTND3 3 4
  • ND3 3 4
  • NADH Dehydrogenase, Subunit 3 (Complex I) 3
  • NADH-Ubiquinone Oxidoreductase Chain 3 2
  • Complex I ND3 Subunit 2
  • NADH Dehydrogenase 3 2
  • NADH3 4

External Ids for MT-ND3 Gene

Previous HGNC Symbols for MT-ND3 Gene

  • MTND3

Previous GeneCards Identifiers for MT-ND3 Gene

  • GC00U921589

Summaries for MT-ND3 Gene

GeneCards Summary for MT-ND3 Gene

MT-ND3 (Mitochondrially Encoded NADH Dehydrogenase 3) is a Protein Coding gene. Diseases associated with MT-ND3 include renal oncocytoma and sparganosis. Among its related pathways are Metabolism and Metabolism.

UniProtKB/Swiss-Prot for MT-ND3 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-ND3 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-ND3 Gene

Genomics for MT-ND3 Gene

Genomic Location for MT-ND3 Gene

Start:
10,059 bp from pter
End:
10,404 bp from pter
Size:
346 bases
Orientation:
Plus strand

Genomic View for MT-ND3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

RefSeq DNA sequence for MT-ND3 Gene

No data available for Regulatory Elements for MT-ND3 Gene

Proteins for MT-ND3 Gene

  • Protein details for MT-ND3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03897-NU3M_HUMAN
    Recommended name:
    NADH-ubiquinone oxidoreductase chain 3
    Protein Accession:
    P03897
    Secondary Accessions:

    Protein attributes for MT-ND3 Gene

    Size:
    115 amino acids
    Molecular mass:
    13186 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MT-ND3 Gene

Proteomics data for MT-ND3 Gene at MOPED

Selected DME Specific Peptides for MT-ND3 Gene

Post-translational modifications for MT-ND3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MT-ND3 Gene

ENSEMBL proteins:
Reactome Protein details:

Domains for MT-ND3 Gene

Gene Families for MT-ND3 Gene

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

Protein Domains for MT-ND3 Gene

Suggested Antigen Peptide Sequences for MT-ND3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P03897

UniProtKB/Swiss-Prot:

NU3M_HUMAN :
  • P03897
Family:
  • Belongs to the complex I subunit 3 family.
genes like me logo Genes that share domains with MT-ND3: view

Function for MT-ND3 Gene

Molecular function for MT-ND3 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-ND3 Gene

Gene Ontology (GO) - Molecular Function for MT-ND3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0008137 NADH dehydrogenase (ubiquinone) activity --
genes like me logo Genes that share ontologies with MT-ND3: view

Phenotypes for MT-ND3 Gene

GenomeRNAi human phenotypes for MT-ND3:
genes like me logo Genes that share phenotypes with MT-ND3: view

miRNA for MT-ND3 Gene

miRTarBase miRNAs that target MT-ND3

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MT-ND3 Gene

Localization for MT-ND3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-ND3 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MT-ND3 Gene COMPARTMENTS Subcellular localization image for MT-ND3 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
endoplasmic reticulum 1
extracellular 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MT-ND3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane --
GO:0005747 mitochondrial respiratory chain complex I --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with MT-ND3: view

Pathways for MT-ND3 Gene

genes like me logo Genes that share pathways with MT-ND3: view

Gene Ontology (GO) - Biological Process for MT-ND3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone --
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-ND3: view

Compounds for MT-ND3 Gene

(4) HMDB Compounds for MT-ND3 Gene

Compound Synonyms Cas Number PubMed IDs
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
Ubiquinol 8
  • ubiquinol-8
56275-39-9
Ubiquinone Q1
  • Coenzyme Q
727-81-1

(1) Drugbank Compounds for MT-ND3 Gene

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

(6) Novoseek inferred chemical compound relationships for MT-ND3 Gene

Compound -log(P) Hits PubMed IDs
nadh 81.7 15
pyruvate 37.5 1
proline 27.6 2
threonine 22.1 2
alanine 11.5 2
genes like me logo Genes that share compounds with MT-ND3: view

Transcripts for MT-ND3 Gene

mRNA/cDNA for MT-ND3 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for MT-ND3 Gene

No ASD Table

Relevant External Links for MT-ND3 Gene

GeneLoc Exon Structure for
MT-ND3
ECgene alternative splicing isoforms for
MT-ND3

Expression for MT-ND3 Gene

mRNA expression in normal human tissues for MT-ND3 Gene

mRNA differential expression in normal tissues according to GTEx for MT-ND3 Gene

This gene is overexpressed in Heart - Left Ventricle (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MT-ND3 Gene

genes like me logo Genes that share expressions with MT-ND3: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MT-ND3 Gene

Orthologs for MT-ND3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MT-ND3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MT-ND3 36
  • 95 (a)
OneToOne
ND3 35
  • 88.41 (n)
  • 94.78 (a)
cow
(Bos Taurus)
Mammalia MT-ND3 36
  • 74 (a)
OneToOne
ND3 35
  • 69.86 (n)
  • 73.04 (a)
dog
(Canis familiaris)
Mammalia MT-ND3 36
  • 71 (a)
OneToOne
ND3 35
  • 66.67 (n)
  • 69.57 (a)
mouse
(Mus musculus)
Mammalia mt-Nd3 16
mt-Nd3 36
  • 66 (a)
OneToOne
ND3 35
  • 67.25 (n)
  • 66.96 (a)
oppossum
(Monodelphis domestica)
Mammalia NADH3 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ND3 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia ND3 35
  • 65.8 (n)
  • 68.7 (a)
chicken
(Gallus gallus)
Aves MT-ND3 36
  • 51 (a)
OneToOne
ND3 35
  • 61.52 (n)
  • 55.45 (a)
lizard
(Anolis carolinensis)
Reptilia ND3 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ND3 35
  • 61.01 (n)
  • 54.46 (a)
zebrafish
(Danio rerio)
Actinopterygii mt-nd3 36
  • 54 (a)
OneToOne
ND3 35
  • 60.77 (n)
  • 58.41 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta ND3 35
  • 57.94 (n)
  • 52.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta mt:ND3 36
  • 38 (a)
OneToOne
ND3 35
  • 54.37 (n)
  • 46.43 (a)
Species with no ortholog for MT-ND3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MT-ND3 Gene

ENSEMBL:
Gene Tree for MT-ND3 (if available)
TreeFam:
Gene Tree for MT-ND3 (if available)

Paralogs for MT-ND3 Gene

Selected SIMAP similar genes for MT-ND3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MT-ND3: view

No data available for Paralogs for MT-ND3 Gene

Variants for MT-ND3 Gene

Sequence variations from dbSNP and Humsavar for MT-ND3 Gene

SNP ID Clin Chr MT pos Sequence Context AA Info Type MAF
VAR_008391 -
VAR_008392 -
VAR_008598 -
VAR_035091 Mitochondrial complex I deficiency (MT-C1D)
VAR_035092 Leigh syndrome (LS)

Relevant External Links for MT-ND3 Gene

HapMap Linkage Disequilibrium report
MT-ND3
Human Gene Mutation Database (HGMD)
MT-ND3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MT-ND3 Gene

Disorders for MT-ND3 Gene

UniProtKB/Swiss-Prot

NU3M_HUMAN
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:17152068}. 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:11456298, ECO:0000269 PubMed:14705112, 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-ND3 Gene

(3) Novoseek inferred disease relationships for MT-ND3 Gene

Disease -log(P) Hits PubMed IDs
leigh syndrome 84.9 6
mitochondrial diseases 77.6 1
sterility male 74.1 2

Relevant External Links for MT-ND3

GeneTests
MT-ND3
GeneReviews
MT-ND3
Genetic Association Database (GAD)
MT-ND3
genes like me logo Genes that share disorders with MT-ND3: view

Publications for MT-ND3 Gene

  1. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. (PMID: 17152068) Sarzi E. … Procaccio V. (Am. J. Med. Genet. A 2007) 3 4 23
  2. A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. (PMID: 17413873) Chae J.H. … Hirano M. (Pediatr. Res. 2007) 3 23
  3. Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. (PMID: 16023078) Leshinsky-Silver E. … Lerman-Sagie T. (Biochem. Biophys. Res. Commun. 2005) 3 23
  4. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. (PMID: 11456298) Taylor R.W. … Turnbull D.M. (Ann. Neurol. 2001) 4 23
  5. A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality. (PMID: 14764913) Crimi M. … Comi G.P. (Pediatr. Res. 2004) 3 23

Products for MT-ND3 Gene

Sources for MT-ND3 Gene

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