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

Gene ID: 4509, updated on 13-Mar-2024

Summary

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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 mitochondrial ATP synthesis coupled proton transport. Part of mitochondrial proton-transporting ATP synthase complex. Implicated in multiple sclerosis and urinary bladder cancer. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

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See MT-ATP8 in Genome Data Viewer
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (8366..8572)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (8366..8572)

Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit II Neighboring gene tRNA-Lys Neighboring gene ATP synthase F0 subunit 6 Neighboring gene cytochrome c oxidase subunit III Neighboring gene tRNA-Gly

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. Polymorphisms in the mitochondrially encoded ATP synthase 8 gene are associated with susceptibility to bullous pemphigoid in the German population. Hirose M, et al. Exp Dermatol, 2015 Sep. PMID 25941154
  2. Homoplasmic deleterious MT-ATP6/8 mutations in adult patients. Rucheton B, et al. Mitochondrion, 2020 Nov. PMID 32858252
  3. Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes. Lewis CJ, et al. Redox Biol, 2020 Feb. PMID 31981894, Free PMC Article
  4. Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder. Flaquer A, et al. Transl Psychiatry, 2015 Mar 10. PMID 25756807, Free PMC Article
  5. Novel mitochondrial mutations in the ATP6 and ATP8 genes in patients with breast cancer. Grzybowska-Szatkowska L, et al. Mol Med Rep, 2014 Oct. PMID 25110199, Free PMC Article

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.
    Title: Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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)

Genotypes

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 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
  
part_of mitochondrial proton-transporting ATP synthase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial proton-transporting ATP synthase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial proton-transporting ATP synthase complex NAS
Non-traceable Author Statement
more info
 PubMed 
part_of mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
ATP synthase F0 subunit 8
YP_003024030.1
  • ATP synthase 8; ATPase subunit 8

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
    8366..8572
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. YP_003024030.1 ATP synthase F0 subunit 8 (mitochondrion) [Homo sapiens]

    See identical proteins and their annotated locations for YP_003024030.1

    Status: PROVISIONAL

    UniProtKB/Swiss-Prot
    P03928, Q34771
    UniProtKB/TrEMBL
    A0A059QM53, A0A1X7RCP4, U5YV54
    Related
    ENSP00000355265.1
    Conserved Domains (1) summary
    MTH00102
    Location:1 → 67
    ATP8; ATP synthase F0 subunit 8; Validated
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P03928.1 P03928

Gene LinkOut

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