MT-ATP8 mitochondrially encoded ATP synthase 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-ATP8provided by HGNC
Official Full Name: mitochondrially encoded ATP synthase 8provided by HGNC
Primary source: HGNC:HGNC:7415
See related: MIM:516070; AllianceGenome:HGNC:7415
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: ATPase8; MTATP8; ATP8
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 multiple sclerosis and urinary bladder cancer. [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 (8366..8572)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (8366..8572)

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?

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.
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.
Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.
Title: Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.
Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes.
Title: Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes.
ATP8 genetic polymorphisms associated with breast cancer in Mizoram mongloid population.
Title: Mitochondrial complex I and V gene polymorphisms associated with breast cancer in mizo-mongloid population.
polymorphisms in MT-ATP8 may have an impact on the pathogenesis of BP in the German population.
Title: Polymorphisms in the mitochondrially encoded ATP synthase 8 gene are associated with susceptibility to bullous pemphigoid in the German population.
Mitochondrially encoded ATP synthase, complex V, is an important enzyme that provides energy to be used by the cell through the synthesis of ATP.
Title: Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder.
identified 8 changes in ATP6 gene in 36/50 examined breast cancer cell samples and 5 changes in ATP8 gene (10/50); most were homoplasmic changes of missense type; 4 changes (A8439C, G8858C, C9130G and T9119G) had not been described in the literature before
Title: Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer.
Mutations in ATP synthase F0 subunit 8 is associated with peripheral neuropathy of diabetes.
Title: Novel mutations in ATPase 8, ND1 and ND5 genes associated with peripheral neuropathy of diabetes.
Three mutations were significantly related to the presence of epilepsy. These mutations were found at the 8502, 11994, and 13,231 bp of mtDNA, which resulted in amino acid changes at the MT-ATP-8, MT-ND4 and MT-ND5 genes.
Title: Mitochondrial DNA profiling via genomic analysis in mesial temporal lobe epilepsy patients with hippocampal sclerosis.

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Phenotypes

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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

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

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	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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

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