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Aliases for MT-ATP8 Gene

Aliases for MT-ATP8 Gene

  • Mitochondrially Encoded ATP Synthase 8 2 5
  • ATPase8 3 4
  • MTATP8 3 4
  • ATP8 3 4
  • ATP Synthase F0 Subunit 8 3
  • F-ATPase Subunit 8 4
  • ATP Synthase 8 2
  • A6L 4

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 8) is a Protein Coding gene. Diseases associated with MT-ATP8 include Mitochondrial Complex V Deficiency, Mitochondrial 2 and Isolated Atp Synthase Deficiency. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include ATPase activity and hydrogen ion transmembrane transporter activity.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for MT-ATP8 Gene

Genomics for MT-ATP8 Gene

Genomic Location for MT-ATP8 Gene

Chromosome:
MT
Start:
8,366 bp from pter
End:
8,572 bp from pter
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 Regulatory Elements for MT-ATP8 Gene

Proteins for MT-ATP8 Gene

  • 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 ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity).

neXtProt entry for MT-ATP8 Gene

Post-translational modifications for MT-ATP8 Gene

  • Ubiquitination at posLast=4040
  • 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

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

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 hydrogen ion transmembrane transporter activity IEA --
GO:0016887 ATPase activity IDA --
GO:0022857 transmembrane transporter activity IC --
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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MT-ATP8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005753 mitochondrial proton-transporting ATP synthase complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of 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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IEA --
GO:0015992 proton transport IEA --
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

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

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with MT-ATP8: view

Transcripts for MT-ATP8 Gene

mRNA/cDNA for MT-ATP8 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MT-ATP8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
MT-ATP8

Expression for MT-ATP8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, 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

  • Heart(4.2)
  • Muscle(4.2)
  • Adrenal gland(3.7)
  • Gall bladder(3.7)
  • Liver(3.7)
  • Skin(3.7)
  • Kidney(3.6)
  • Thyroid gland(3.6)
  • Lymph node(3.5)
  • Intestine(3.4)
  • Pancreas(3.4)
  • Stomach(3.4)
  • Nervous system(3.4)
  • Lung(3.3)
  • Bone marrow(3.2)
  • Spleen(3.2)

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
Organs:
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 34
  • 94 (a)
OneToOne
ATP8 33
  • 91.18 (n)
Species where no ortholog for MT-ATP8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for MT-ATP8 Gene

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

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

Sequence variations from dbSNP and Humsavar for MT-ATP8 Gene

SNP ID Clin Chr MT pos Sequence Context AA Info Type
rs387906422 Mitochondrial complex V deficiency, mitochondrial 2 (MC5DM2) [MIM:516070], Cardiomyopathy, infantile hypertrophic (CMHI) [MIM:500006]
rs1057516062 Likely pathogenic 8,418(+) ACTCC(C/T)TACAC reference, missense
rs200715932 Likely benign 8,410(+) CCCCC(A/C/G/T)TACTC reference, synonymous-codon
rs878853091 Likely benign 8,519(+) CCTGA(A/G)AACCA reference, missense
rs121434446 other 8,393(+) TATGG(C/T)CCACC reference, missense

Relevant External Links for MT-ATP8 Gene

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

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

(11) MalaCards diseases for MT-ATP8 Gene - From: HGMD, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex v deficiency, mitochondrial 2
  • apical hypertrophic cardiomyopathy and neuropathy
isolated atp synthase deficiency
  • isolated mitochondrial respiratory chain complex v deficiency
periodic paralysis with later-onset distal motor neuropathy
cardiomyopathy, infantile hypertrophic
  • cmhi
kearns-sayre syndrome
  • ophthalmoplegia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATP8_HUMAN
  • 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 mutations affecting distinct genetic loci, including the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for MT-ATP8

Genetic Association Database (GAD)
MT-ATP8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MT-ATP8
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. 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 45 60
  2. 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 60
  3. Mitochondrial tRNALeu/Lys and ATPase 6/8 gene variations in spinocerebellar ataxias. (PMID: 19066432) Safaei S … Shariati P (Neuro-degenerative diseases 2009) 3 22 60
  4. 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 45 60
  5. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S … Young IG (Nature 1981) 3 4 60

Products for MT-ATP8 Gene

Sources for MT-ATP8 Gene

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