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

Summary

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. Part of mitochondrial respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and Parkinson's disease. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	MT (non-nuclear)	NC_012920.1 (10059..10404)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (10059..10404)

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
Title: NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
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.
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.
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.
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.
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.
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.
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.
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.
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.

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Phenotypes

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Variation

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See studies and variants in dbVar

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Genotypes

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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

SHGC-57364 (e-PCR)
- UniSTS:67674

PMC55343P4 (e-PCR)
- UniSTS:273327

PMC55343P5 (e-PCR)
- UniSTS:273328

PMC55343P6 (e-PCR)
- UniSTS:273329

PMC55343P7 (e-PCR)
- UniSTS:273330

PMC55343P8 (e-PCR)
- UniSTS:273331

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 response to light intensity	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	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
part_of mitochondrial respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial respiratory chain complex I	IPI Inferred from Physical Interaction more info	PubMed
part_of mitochondrial respiratory chain complex I	NAS Non-traceable Author Statement more info	PubMed