MT-ATP8 Gene (Protein Coding)

Mitochondrially Encoded ATP Synthase Membrane Subunit 8

GCMTP008368
GIFtS:
30
See more...

Aliases for MT-ATP8 Gene

Aliases for MT-ATP8 Gene

  • Mitochondrially Encoded ATP Synthase Membrane Subunit 8 2 5
  • ATP8 2 3 4
  • MTATP8 3 4
  • A6L 2 4
  • Mitochondrially Encoded ATP Synthase Membrane Subunit A6L 2
  • Mitochondrially Encoded ATP Synthase 8 2
  • ATP Synthase F0 Subunit 8 3
  • ATP Synthase Protein 8 4
  • F-ATPase Subunit 8 4
  • ATP Synthase 8 2
  • ATPase8 3
  • MT-ATP8 5
  • ATPASE8 4
  • URFA6L 2

External Ids for MT-ATP8 Gene

Previous HGNC Symbols for MT-ATP8 Gene

  • MTATP8

Previous GeneCards Identifiers for MT-ATP8 Gene

  • GC00U921583

Summaries for MT-ATP8 Gene

GeneCards Summary for MT-ATP8 Gene

MT-ATP8 (Mitochondrially Encoded ATP Synthase Membrane Subunit 8) is a Protein Coding gene. Diseases associated with MT-ATP8 include Cardiomyopathy, Infantile Hypertrophic and Periodic Paralysis With Later-Onset Distal Motor Neuropathy. Among its related pathways are Pathways of neurodegeneration - multiple diseases and purine nucleotides de novo biosynthesis. Gene Ontology (GO) annotations related to this gene include ATPase activity and proton transmembrane transporter activity.

UniProtKB/Swiss-Prot Summary for MT-ATP8 Gene

  • Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity).

Gene Wiki entry for MT-ATP8 Gene

Additional gene information for MT-ATP8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MT-ATP8 Gene

Genomics for MT-ATP8 Gene

Genomic Locations for MT-ATP8 Gene

Latest Assembly
chrMT:8,366-8,572
(GRCh38/hg38)
Size:
207 bases
Orientation:
Plus strand

Previous Assembly
chrMT:8,366-8,572
(GRCh37/hg19 by Ensembl)
Size:
207 bases
Orientation:
Plus strand

Genomic View for MT-ATP8 Gene

Genes around MT-ATP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-ATP8 Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-ATP8 Gene

Proteins for MT-ATP8 Gene

Products:

  1. Antibodies for research
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  3. Assay products for research

  • Protein details for MT-ATP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03928-ATP8_HUMAN
    Recommended name:
    ATP synthase protein 8
    Protein Accession:
    P03928
    Secondary Accessions:
    • Q34771

    Protein attributes for MT-ATP8 Gene

    Size:
    68 amino acids
    Molecular mass:
    7992 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MD and ATP5MPL (By similarity).

neXtProt entry for MT-ATP8 Gene

Protein Expression for MT-ATP8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MT-ATP8 Gene

  • Ubiquitination at Lys40
  • Modification sites at PhosphoSitePlus

Other Protein References for MT-ATP8 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for MT-ATP8 Gene

Domains & Families for MT-ATP8 Gene

Gene Families for MT-ATP8 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for MT-ATP8 Gene

InterPro:
Blocks:
  • Mitochondrial ATPase, subunit 8

Suggested Antigen Peptide Sequences for MT-ATP8 Gene

GenScript: Design optimal peptide antigens:
  • ATP synthase protein 8 (A0S208_HUMAN)
  • ATP synthase protein 8 (A0S8D6_HUMAN)
  • ATP synthase protein 8 (A0S9D7_HUMAN)
  • ATP synthase protein 8 (A0SBU5_HUMAN)
  • ATP synthase protein 8 (A1DT13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P03928

UniProtKB/Swiss-Prot:

ATP8_HUMAN :
  • Belongs to the ATPase protein 8 family.
Family:
  • Belongs to the ATPase protein 8 family.
genes like me logo Genes that share domains with MT-ATP8: view

Function for MT-ATP8 Gene

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  1. Animal Models for research
  2. CRISPR products for research
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  4. Inhibitory RNAs for research
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  6. Cell Lines for research

Molecular function for MT-ATP8 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. Minor subunit located with subunit a in the membrane (By similarity).

Gene Ontology (GO) - Molecular Function for MT-ATP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015078 proton transmembrane transporter activity IEA --
GO:0046933 contributes_to proton-transporting ATP synthase activity, rotational mechanism IDA 12110673
genes like me logo Genes that share ontologies with MT-ATP8: view

Phenotypes for MT-ATP8 Gene

GenomeRNAi human phenotypes for MT-ATP8:
genes like me logo Genes that share phenotypes with MT-ATP8: view

Human Phenotype Ontology for MT-ATP8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MT-ATP8 Gene

Localization for MT-ATP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-ATP8 Gene

Mitochondrion membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-ATP8 gene
Compartment Confidence
mitochondrion 5
extracellular 3
nucleus 3
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MT-ATP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IEA --
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA 12110673
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MT-ATP8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MT-ATP8 Gene

Pathways & Interactions for MT-ATP8 Gene

genes like me logo Genes that share pathways with MT-ATP8: view

Gene Ontology (GO) - Biological Process for MT-ATP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process TAS --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IEA --
GO:0042407 cristae formation TAS --
GO:0042776 mitochondrial ATP synthesis coupled proton transport TAS --
genes like me logo Genes that share ontologies with MT-ATP8: view

No data available for SIGNOR curated interactions for MT-ATP8 Gene

Drugs & Compounds for MT-ATP8 Gene

Products:

  1. Drug products for research

(4) Drugs for MT-ATP8 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(2) Additional Compounds for MT-ATP8 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
genes like me logo Genes that share compounds with MT-ATP8: view

Transcripts for MT-ATP8 Gene

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  2. miRNA products for research
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mRNA/cDNA for MT-ATP8 Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MT-ATP8 Gene

No ASD Table

Relevant External Links for MT-ATP8 Gene

GeneLoc Exon Structure for
MT-ATP8

Expression for MT-ATP8 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-ATP8 Gene

mRNA expression in normal human tissues for MT-ATP8 Gene

Protein differential expression in normal tissues from HIPED for MT-ATP8 Gene

This gene is overexpressed in Bone (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MT-ATP8 Gene



Protein tissue co-expression partners for MT-ATP8 Gene

Evidence on tissue expression from TISSUES for MT-ATP8 Gene

  • Muscle(4.4)
  • Heart(4.3)
  • Skin(4.2)
  • Liver(4)
  • Kidney(3.9)
  • Nervous system(3.9)
  • Thyroid gland(3.8)
  • Intestine(3.8)
  • Pancreas(3.8)
  • Gall bladder(3.7)
  • Stomach(3.7)
  • Adrenal gland(3.7)
  • Lung(3.6)
  • Lymph node(3.5)
  • Spleen(3.4)
  • Bone marrow(3.3)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-ATP8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebrospinal fluid
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with MT-ATP8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MT-ATP8 Gene

Orthologs for MT-ATP8 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for MT-ATP8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia MT-ATP8 30
  • 94 (a)
 OneToOne
ATP8 29
  • 91.18 (n)
Species where no ortholog for MT-ATP8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for MT-ATP8 Gene

ENSEMBL:
Gene Tree for MT-ATP8 (if available)
TreeFam:
Gene Tree for MT-ATP8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MT-ATP8: view image
Alliance of Genome Resources:
Additional Orthologs for MT-ATP8

Paralogs for MT-ATP8 Gene

(3) SIMAP similar genes for MT-ATP8 Gene using alignment to 1 proteins:

  • ATP8_HUMAN
genes like me logo Genes that share paralogs with MT-ATP8: view

No data available for Paralogs for MT-ATP8 Gene

Variants for MT-ATP8 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-ATP8 Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
209212 Likely Pathogenic: Primary dilated cardiomyopathy; Macrocytic dyserythropoietic anemia 5,781(+) CTGCTTCTTCGAATTT
NC_012920.1:m.5782_13922del8141 		INITIATIOR_CODON_VARIANT,FRAMESHIFT
209213 Likely Pathogenic: Primary dilated cardiomyopathy; Macrocytic dyserythropoietic anemia 5,793(+) ATTTGCAATTCAATAT
NC_012920.1:m.5794_14876del9083 		INITIATIOR_CODON_VARIANT,FRAMESHIFT
430677 Pathogenic: Mitochondrial diseases 7,729(+) AAAACTAACTAATACT
NC_012920.1:m.7730_11255del3526 		INITIATIOR_CODON_VARIANT,FRAMESHIFT
638146 Pathogenic: Pearson syndrome 8,479(+) ACCAAAGCCCATAAAA
NC_012920.1:m.8480_13440del 		INITIATIOR_CODON_VARIANT,FRAMESHIFT
869162 Likely Pathogenic: Failure to thrive; Anemia; Acidosis; Increased serum lactate 8,570(+) T/C
NC_012920.1:m.8570T>C 		STOP_LOST,MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MT-ATP8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Additional Variant Information for MT-ATP8 Gene

Human Gene Mutation Database (HGMD)
MT-ATP8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-ATP8
Leiden Open Variation Database (LOVD)
MT-ATP8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-ATP8 Gene

Disorders for MT-ATP8 Gene

MalaCards: The human disease database

(26) MalaCards diseases for MT-ATP8 Gene - From: CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
cardiomyopathy, infantile hypertrophic
  • infantile hypertrophic cardiomyopathy
periodic paralysis with later-onset distal motor neuropathy
cardiomyopathy, infantile histiocytoid
  • cardiomyopathy, infantile xanthomatous
aortic valve disease 1
  • aovd1
isolated atp synthase deficiency
  • isolated mitochondrial respiratory chain complex v deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATP8_HUMAN
  • Mitochondrial complex V deficiency, mitochondrial 2 (MC5DM2) [MIM:516070]: A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. {ECO:0000269 PubMed:19188198}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Cardiomyopathy, infantile hypertrophic (CMHI) [MIM:500006]: An infantile form of hypertrophic cardiomyopathy, a heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:19188198}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.

Additional Disease Information for MT-ATP8

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MT-ATP8: view

No data available for Genatlas for MT-ATP8 Gene

Publications for MT-ATP8 Gene

  1. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. (PMID: 19188198) Ware SM … Wong LJ (Journal of medical genetics 2009) 4 22 72
  2. Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients. (PMID: 17619138) Ahari SE … Bahar MA (Cellular and molecular neurobiology 2007) 3 22 40
  3. Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations. (PMID: 24153443) Auré K … Lombès A (Neurology 2013) 3 72
  4. Mitochondrial tRNALeu/Lys and ATPase 6/8 gene variations in spinocerebellar ataxias. (PMID: 19066432) Safaei S … Shariati P (Neuro-degenerative diseases 2009) 3 22
  5. Polymorphisms in the coding region of mtDNA and effects on clinical outcome of unrelated bone marrow transplantation. (PMID: 11607774) Ishikawa Y … Juji T (Bone marrow transplantation 2001) 3 40

ExternalLinks

View latest publications for MT-ATP8 gene in Mastermind

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