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Aliases for MT-ND3 Gene

Aliases for MT-ND3 Gene

  • Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 3 2 5
  • NADH Dehydrogenase Subunit 3 3 4
  • EC 1.6.5.3 4 61
  • MTND3 3 4
  • ND3 3 4
  • Mitochondrially Encoded NADH Dehydrogenase 3 2
  • 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:Ubiquinone Oxidoreductase Core Subunit 3) is a Protein Coding gene. Diseases associated with MT-ND3 include Leigh Syndrome and Leber Optic Atrophy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

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 , CIViC 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

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

Genomic View for MT-ND3 Gene

Genes around MT-ND3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

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

    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

Selected DME Specific Peptides for MT-ND3 Gene

P03897:
  • YECGFDP
  • FWLPQLN
  • LAYEWLQKGL
  • FLLFDLE

Post-translational modifications for MT-ND3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MT-ND3 Gene

ENSEMBL proteins:

Domains & Families for MT-ND3 Gene

Gene Families for MT-ND3 Gene

Protein Domains for MT-ND3 Gene

Graphical View of Domain Structure for InterPro Entry

P03897

UniProtKB/Swiss-Prot:

NU3M_HUMAN :
  • Belongs to the complex I subunit 3 family.
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:0008137 NADH dehydrogenase (ubiquinone) activity NAS --
GO:0016491 oxidoreductase activity IEA --
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

Human Phenotype Ontology for MT-ND3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MT-ND3 Gene

miRTarBase miRNAs that target MT-ND3

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-ND3 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
cytosol 2
extracellular 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MT-ND3: view

Pathways & Interactions 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 TAS --
GO:0006979 response to oxidative stress IEA --
GO:0009642 response to light intensity IEA --
GO:0009725 response to hormone IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
genes like me logo Genes that share ontologies with MT-ND3: view

No data available for SIGNOR curated interactions for MT-ND3 Gene

Drugs & Compounds for MT-ND3 Gene

(10) Drugs for MT-ND3 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
Coenzyme Q10 Experimental Nutra 121
NADH Nutra Target, binder 0
NAD Pharma Full agonist, Agonist 0

(3) Additional Compounds for MT-ND3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.2).

Protein differential expression in normal tissues from HIPED for MT-ND3 Gene

This gene is overexpressed in Frontal cortex (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MT-ND3 Gene



Protein tissue co-expression partners for MT-ND3 Gene

- Elite partner

Evidence on tissue expression from TISSUES for MT-ND3 Gene

  • Muscle(4)
  • Heart(3.9)
  • Nervous system(3.6)
  • Adrenal gland(3.5)
  • Liver(3.5)
  • Kidney(3.4)
  • Skin(3.4)
  • Gall bladder(3.3)
  • Pancreas(3.3)
  • Stomach(3.2)
  • Intestine(3.1)
  • Lung(3.1)
  • Lymph node(3.1)
  • Thyroid gland(3.1)
  • Spleen(3)
  • Bone marrow(2.9)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-ND3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • mouth
  • neck
  • pharynx
  • skull
  • tongue
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • adrenal gland
  • liver
  • stomach
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with MT-ND3: view

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 35
  • 95 (a)
OneToOne
ND3 34
  • 88.41 (n)
cow
(Bos Taurus)
Mammalia MT-ND3 35
  • 74 (a)
OneToOne
ND3 34
  • 69.86 (n)
dog
(Canis familiaris)
Mammalia MT-ND3 35
  • 71 (a)
OneToOne
ND3 34
  • 66.67 (n)
mouse
(Mus musculus)
Mammalia ND3 34
  • 67.25 (n)
mt-Nd3 16 35
  • 66 (a)
oppossum
(Monodelphis domestica)
Mammalia NADH3 35
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia ND3 34
  • 65.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ND3 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves ND3 34
  • 61.52 (n)
MT-ND3 35
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ND3 35
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ND3 34
  • 61.01 (n)
zebrafish
(Danio rerio)
Actinopterygii ND3 34
  • 60.77 (n)
mt-nd3 35
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ND3 34
  • 57.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta ND3 34
  • 54.37 (n)
mt:ND3 35
  • 38 (a)
OneToOne
Species where no ortholog for MT-ND3 was found in the sources mined by GeneCards:
  • 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

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
rs199476117 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 10,158(+) AAAAA(C/T)CCACC reference, missense
rs267606890 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 10,191(+) CTATA(C/T)CCCCC reference, missense
rs267606891 Pathogenic, Leigh syndrome (LS) [MIM:256000], Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 10,197(+) CCCCC(A/G)CCCGC reference, missense
rs193302927 Pathogenic 10,237(+) GCTAT(C/T)ACCTT reference, missense
rs587776438 Pathogenic 10,254(+) TATTT(A/G)ATCTA reference, missense

Relevant External Links for MT-ND3 Gene

Human Gene Mutation Database (HGMD)
MT-ND3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-ND3

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

Disorders for MT-ND3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for MT-ND3 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leber optic atrophy
  • leber congenital amaurosis
leber hereditary optic neuropathy with dystonia
  • dystonia familial, with visual failure and striatal lucencies
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
mitochondrial dna-associated leigh syndrome and narp
  • mtdna-associated leigh syndromenarp
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for MT-ND3

Genetic Association Database (GAD)
MT-ND3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MT-ND3
genes like me logo Genes that share disorders with MT-ND3: view

No data available for Genatlas for MT-ND3 Gene

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 22 64
  2. Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. (PMID: 19617458) Lim B.C. … Moon H.K. (J. Child Neurol. 2009) 3 22 64
  3. Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations. (PMID: 19520270) Werner K.G. … Feigenbaum A.S. (Pediatr. Neurol. 2009) 3 22 64
  4. The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study. (PMID: 17066297) Bhat A. … Bamezai R.N. (Hum. Genet. 2007) 3 46 64
  5. Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer. (PMID: 17081685) Darvishi K. … Bamezai R.N. (Cancer Lett. 2007) 3 46 64

Products for MT-ND3 Gene

Sources for MT-ND3 Gene

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