MT-ATP6 mitochondrially encoded ATP synthase 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-ATP6provided by HGNC
Official Full Name: mitochondrially encoded ATP synthase 6provided by HGNC
Primary source: HGNC:HGNC:7414
See related: MIM:516060; AllianceGenome:HGNC:7414
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: ATPase6; MTATP6; ATP6
Summary: Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Nov 2024]
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Genomic context

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	MT (non-nuclear)	NC_012920.1 (8527..9207)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (8527..9207)

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
Title: A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.
Title: Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies.
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Title: MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast.
Title: Probing the pathogenicity of patient-derived variants of MT-ATP6 in yeast.
Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations.
Title: Generation of two mother-child pairs of iPSCs from maternally inherited Leigh syndrome patients with m.8993 T > G and m.9176 T > G MT-ATP6 mutations.
A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8.
Title: A lack of a definite correlation between male sub-fertility and single nucleotide polymorphisms in sperm mitochondrial genes MT-CO3, MT-ATP6 and MT-ATP8.
Analysis of mitochondrial DNA cytochrome-b (CYB) and ATPase-6 gene mutations in COVID-19 patients.
Title: Analysis of mitochondrial DNA cytochrome-b (CYB) and ATPase-6 gene mutations in COVID-19 patients.
Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.
Title: Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.
Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
Title: Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
The effect of oral melatonin supplementation on MT-ATP6 gene expression and IVF outcomes in Iranian infertile couples: a nonrandomized controlled trial.
Title: The effect of oral melatonin supplementation on MT-ATP6 gene expression and IVF outcomes in Iranian infertile couples: a nonrandomized controlled trial.

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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
NARP syndrome MedGen: C1328349 OMIM: 551500 GeneReviews: Mitochondrial DNA-Associated Leigh Syndrome Spectrum, Primary Mitochondrial Disorders Overview	Compare labs

Variation

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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

D17S813E (e-PCR)
- UniSTS:92461

PMC109173P1 (e-PCR)
- UniSTS:270154

PMC20756P1 (e-PCR)
- UniSTS:271961

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

PMC20756P2 (e-PCR)
- UniSTS:271962

PMC20756P3 (e-PCR)
- UniSTS:271963

RH98513 (e-PCR)
- UniSTS:83580

D1S2077E (e-PCR)
- UniSTS:151716

PMC55343P3 (e-PCR)
- UniSTS:273326

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

PMC196577P3 (e-PCR)
- UniSTS:271816

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to proton-transporting ATP synthase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info
contributes_to proton-transporting ATP synthase activity, rotational mechanism	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in proton motive force-driven ATP synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton motive force-driven ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in response to hyperoxia	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IC Inferred by Curator more info	PubMed
part_of proton-transporting ATP synthase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of proton-transporting ATP synthase complex	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting ATP synthase complex, coupling factor F(o)	IEA Inferred from Electronic Annotation more info