MT-ND5 mitochondrially encoded NADH dehydrogenase 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-ND5provided by HGNC
Official Full Name: mitochondrially encoded NADH dehydrogenase 5provided by HGNC
Primary source: HGNC:HGNC:7461
See related: MIM:516005; AllianceGenome:HGNC:7461
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: MTND5; ND5
Summary: Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Part of mitochondrial respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Leigh disease; and MELAS syndrome. [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 (12337..14148)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (12337..14148)

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?

Maternally transmitted diabetes mellitus may be associated with mitochondrial ND5 T12338C and tRNA[Ala] T5587C variants.
Title: Maternally transmitted diabetes mellitus may be associated with mitochondrial ND5 T12338C and tRNA(Ala) T5587C variants.
circMTND5 Participates in Renal Mitochondrial Injury and Fibrosis by Sponging MIR6812 in Lupus Nephritis.
Title: circMTND5 Participates in Renal Mitochondrial Injury and Fibrosis by Sponging MIR6812 in Lupus Nephritis.
Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes.
Title: Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes.
Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I.
Title: Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I.
NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
Title: NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
2 unrelated children with Leigh syndrome were found to have de novo 13513G>A mutations in MTND5. The oculomotor symptoms and blepharoptosis were particularly notable. There was 64% heteroplasmy in the female patient and 72% in the male patient.
Title: [Two new cases of Leigh syndrome caused by mutation m.13513G> A in the MTND5 gene].
In the present study, we identified a novel mutation of MT-ND5, c.1315A>G (p.Thr439Ala), in a family pedigree using whole-exome sequencing.
Title: Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance.
MT-ND5 mutation exhibits highly variable neurological manifestations.
Title: MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load.
Data suggest that mutations in MT-CO2 and MT-ND5 can be involved in MIDD (maternally inherited diabetes and deafness); a Tunisian family (mother, daughter, son) with clinical features of MIDD associated with retinopathy exhibit mutations in MT-CO2 (m.8241T>G - p. F219C) and MT-ND5 (m.13276G>A - p. M314V); these two mutations could explain retinopathy in some family members. (MT-CO2 = cytochrome c oxidase subunit II)
Title: Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and a novel MT-CO2 m.8241T>G mutation.
A MELAS/Leigh syndrome phenotype caused by a mtDNA mutation [m.13513G>A; p.Asp393Asn] in the ND5 gene encoding the ND5 subunit of respiratory chain complex I was identified in a patient in a second family
Title: Mitochondrial respiratory chain disorders in the Old Order Amish population.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Leber optic atrophy MedGen: C0917796 OMIM: 535000 GeneReviews: Leber Hereditary Optic Neuropathy, Primary Mitochondrial Disorders Overview	Compare labs
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MedGen: C0162671 OMIM: 540000 GeneReviews: Primary Mitochondrial Disorders Overview, MELAS	Compare labs

Variation

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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

PMC55343P10 (e-PCR)
- UniSTS:273323

PMC55343P12 (e-PCR)
- UniSTS:273324

PMC55343P9 (e-PCR)
- UniSTS:273332

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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 NADH dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in electron transport coupled proton transport	IBA Inferred from Biological aspect of Ancestor 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 mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in response to hydrogen peroxide	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to organonitrogen compound	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