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MT-ND3 mitochondrially encoded NADH dehydrogenase 3 [ Homo sapiens (human) ]

Gene ID: 4537, updated on 10-Dec-2024

Summary

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Official Symbol
MT-ND3provided by HGNC
Official Full Name
mitochondrially encoded NADH dehydrogenase 3provided by HGNC
Primary source
HGNC:HGNC:7458
See related
MIM:516002; AllianceGenome:HGNC:7458
Gene type
protein coding
RefSeq status
PROVISIONAL
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MTND3; ND3
Summary
Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and Parkinson's disease. [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

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See MT-ND3 in Genome Data Viewer
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (10059..10404)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (10059..10404)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene ATP synthase F0 subunit 6 Neighboring gene cytochrome c oxidase subunit III Neighboring gene tRNA-Gly Neighboring gene tRNA-Arg Neighboring gene NADH dehydrogenase subunit 4L Neighboring gene NADH dehydrogenase subunit 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome. Nesbitt V, et al. Dev Med Child Neurol, 2012 Jun. PMID 22364517
  2. Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer. Darvishi K, et al. Cancer Lett, 2007 May 8. PMID 17081685
  3. A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia. Sarzi E, et al. Am J Med Genet A, 2007 Jan 1. PMID 17152068
  4. A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency. Chae JH, et al. Pediatr Res, 2007 May. PMID 17413873
  5. Mitochondrial tRNA genes and flanking regions in sudden infant death syndrome. Opdal SH, et al. Acta Paediatr, 2007 Feb. PMID 17429907

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
    Title: NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
  2. Lack of association between single polymorphic variants of the mitochondrial nicotinamide adenine dinucleotide dehydrogenase 3, and 4L (MT-ND3 and MT-ND4L) and male infertility.
    Title: Lack of association between single polymorphic variants of the mitochondrial nicotinamide adenine dinucleotide dehydrogenase 3, and 4L (MT-ND3 and MT-ND4L) and male infertility.
  3. Patient specific Induced Pluripotent Stem Cells with high mutational load (ND3high - iPSC) showed a distinct metabolite profile compared with ND3low - iPSC and control-iPSCs. Metabolites that contributed to this distinction were pyruvate, malic acid, palmitic acid, stearic acid, and lactic acid.
    Title: Metabolic Signature of MELAS/Leigh Overlap Syndrome in Patient-specific Induced Pluripotent Stem Cells Model.
  4. rs28358278, rs2853826, and rs41467651 polymorphisms of MTND3 increase the susceptibility to gastric cancer development.
    Title: Mitochondrial NADH Dehydrogenase Subunit 3 (MTND3) Polymorphisms are Associated with Gastric Cancer Susceptibility.
  5. we did not find somatic mutations in the sequence of the ATP6 and/or ND3 genes in postmenopausal Mexican-Mestizo women with breast cancer
    Title: Complete sequence of the ATP6 and ND3 mitochondrial genes in breast cancer tissue of postmenopausal women with different body mass indexes.
  6. Disruption of FASTKD1 increases ND3 mRNA level. Disruption of FASTKD4 reduces it. Very low levels of FASTKD4 are sufficient to prevent ND3 loss.
    Title: FASTKD1 and FASTKD4 have opposite effects on expression of specific mitochondrial RNAs, depending upon their endonuclease-like RAP domain.
  7. genetic variants not associated with aggressive prostate cancer in overweight or obese Mexicans
    Title: Genetic variants in ATP6 and ND3 mitochondrial genes are not associated with aggressive prostate cancer in Mexican-Mestizo men with overweight or obesity.
  8. In the current study, we first took clinical and molecular datasets from case-control studies to determine the association between the ND3 G10398A mutation and breast cancer.
    Title: Mitochondrial ND3 G10398A mutation: a biomarker for breast cancer.
  9. Earlier age at onset was noted in male Chinese Machado-Joseph disease patients with MT-ND3 gene 10398A polymorphism
    Title: Mitochondrial NADH Dehydrogenase Subunit 3 Polymorphism Associated with an Earlier Age at Onset in Male Machado-Joseph disease Patients.
  10. Study identified cancer-specific somatic variants in the ND2 and ND3 regions, and the presence of these mutated DNAs in the serum during the postoperative period accurately predicted poor prognoses in oral squamous cell carcinomas.
    Title: Quantitative detection of circulating tumor-derived mitochondrial NADH subunit variants as a potential prognostic biomarker for oral cancer.
Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADH dehydrogenase (ubiquinone) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in aerobic respiration NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cellular response to glucocorticoid stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrial electron transport, NADH to ubiquinone IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial electron transport, NADH to ubiquinone NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in proton motive force-driven mitochondrial ATP synthesis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in response to light intensity IEA
Inferred from Electronic Annotation
more info
  
involved_in response to oxidative stress IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
part_of respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of respiratory chain complex I IDA
Inferred from Direct Assay
more info
 PubMed 
part_of respiratory chain complex I NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
NADH dehydrogenase subunit 3
YP_003024033.1
  • TAA stop codon is completed by the addition of 3' A residues to the mRNA

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

  1. NC_012920.1 Reference assembly

    Range
    10059..10404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. YP_003024033.1 NADH dehydrogenase subunit 3 (mitochondrion) [Homo sapiens]

    See identical proteins and their annotated locations for YP_003024033.1

    Status: PROVISIONAL

    UniProtKB/Swiss-Prot
    P03897
    UniProtKB/TrEMBL
    A0A059QPZ6, A0A140DIT1, A0A1B0VYQ3, A0A343ERW1, A0A343JRN4, A0A7T8G694, A4ZN04, A4ZYK1, A6Z8G6, A9LYR7, B9ECT3, C3W5L7, C7SJX3, F8VA07, G3CA14, H9QW90, H9T0Z6, I3Q8N0, I6QHG6, Q4EWX2, Q7GXZ5, Q7YCD3, Q85KT9, Q9B0N1, U5L3Q0
    Related
    ENSP00000355206.2
    Conserved Domains (1) summary
    MTH00106
    Location:1 → 115
    ND3; NADH dehydrogenase subunit 3; Provisional
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P03897.1 P03897

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