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Aliases for ATP5A1 Gene

Aliases for ATP5A1 Gene

  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit 1, Cardiac Muscle 2 3
  • ATP5A 3 4 6
  • ATPM 3 4 6
  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit, Isoform 2, Non-Cardiac Muscle-Like 2 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit, Isoform 1, Cardiac Muscle 2 3
  • ATP5AL2 3 4
  • MC5DN4 3 6
  • ORM 3 6
  • Epididymis Secretory Sperm Binding Protein Li 123m 3
  • Mitochondrial ATP Synthetase, Oligomycin-Resistant 3
  • ATP Synthase Subunit Alpha, Mitochondrial 3
  • ATP Synthase Alpha Chain, Mitochondrial 3
  • ATP Sythase (F1-ATPase) Alpha Subunit 3
  • EC 3.6.3.14 63
  • HEL-S-123m 3
  • EC 3.6.3 63
  • COXPD22 3
  • HATP1 3
  • MOM2 3
  • OMR 3

External Ids for ATP5A1 Gene

Previous HGNC Symbols for ATP5A1 Gene

  • ATP5AL2
  • ATPM

Previous GeneCards Identifiers for ATP5A1 Gene

  • GC18M043976
  • GC18M043450
  • GC18M043552
  • GC18M041916
  • GC18M041918
  • GC18M043664
  • GC18M040521

Summaries for ATP5A1 Gene

Entrez Gene Summary for ATP5A1 Gene

  • This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]

GeneCards Summary for ATP5A1 Gene

ATP5A1 (ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit 1, Cardiac Muscle) is a Protein Coding gene. Diseases associated with ATP5A1 include combined oxidative phosphorylation deficiency 22 and mitochondrial complex deficiency, nuclear type 4. Among its related pathways are Metabolism and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. GO annotations related to this gene include ATPase activity and proton-transporting ATPase activity, rotational mechanism.

UniProtKB/Swiss-Prot for ATP5A1 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. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity).

Gene Wiki entry for ATP5A1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5A1 Gene

Genomics for ATP5A1 Gene

Regulatory Elements for ATP5A1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATP5A1 Gene

Start:
46,080,248 bp from pter
End:
46,104,334 bp from pter
Size:
24,087 bases
Orientation:
Minus strand

Genomic View for ATP5A1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ATP5A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5A1 Gene

Proteins for ATP5A1 Gene

  • Protein details for ATP5A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25705-ATPA_HUMAN
    Recommended name:
    ATP synthase subunit alpha, mitochondrial
    Protein Accession:
    P25705
    Secondary Accessions:
    • A8K092
    • B4DY56
    • K7ENP3
    • Q53XX6
    • Q8IXV2
    • Q96FB4
    • Q96HW2
    • Q96IR6
    • Q9BTV8

    Protein attributes for ATP5A1 Gene

    Size:
    553 amino acids
    Molecular mass:
    59751 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Interacts with ATPAF2. Interacts with HRG; the interaction occurs on the surface of T-cells and alters the cell morphology when associated with concanavalin (in vitro). Interacts with PLG (angiostatin peptide); the interaction inhibits most of the angiogenic properties of angiostatin. 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. Interacts with BLOC1S1. Interacts with BCL2L1 isoform BCL-X(L); the interaction mediates the association of BCL2L1 isoform BCL-X(L) with the mitochondrial membrane F(1)F(0) ATP synthase and enhances neurons metabolic efficency.

    Alternative splice isoforms for ATP5A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP5A1 Gene

Proteomics data for ATP5A1 Gene at MOPED

Post-translational modifications for ATP5A1 Gene

  • Acetylated on lysine residues. BLOC1S1 is required for acetylation.
  • The N-terminus is blocked
  • Ubiquitination at Lys161, Lys167, Lys175, Lys194, Lys230, Lys316, and Lys434
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains for ATP5A1 Gene

Gene Families for ATP5A1 Gene

HGNC:
  • F1ATP :ATPases / F-type
  • FATP :Mitochondrial respiratory chain complex / Complex V
IUPHAR :

Suggested Antigen Peptide Sequences for ATP5A1 Gene

Graphical View of Domain Structure for InterPro Entry

P25705

UniProtKB/Swiss-Prot:

ATPA_HUMAN :
  • P25705
Family:
  • Belongs to the ATPase alpha/beta chains family.
genes like me logo Genes that share domains with ATP5A1: view

Function for ATP5A1 Gene

Molecular function for ATP5A1 Gene

GENATLAS Biochemistry: ATP synthase H+ transporting,mitochondrial membrane (F1 segment),alpha subunit isoform 1,oligomycin-resistant,cardiac muscle,complex V of oxidative phosphorylation (OXPHOS)
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. Subunits alpha and beta form the catalytic core in F(1). Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Subunit alpha does not bear the catalytic high-affinity ATP-binding sites (By similarity).

Enzyme Numbers (IUBMB) for ATP5A1 Gene

Gene Ontology (GO) - Molecular Function for ATP5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10077593
GO:0005524 ATP binding ISS --
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances --
GO:0016887 contributes_to ATPase activity IDA 12110673
GO:0022857 transmembrane transporter activity IC 12110673
genes like me logo Genes that share ontologies with ATP5A1: view
genes like me logo Genes that share phenotypes with ATP5A1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP5A1

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for ATP5A1 Gene

Localization for ATP5A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5A1 Gene

Mitochondrion inner membrane. Cell membrane; Peripheral membrane protein; Extracellular side. Note=Colocalizes with HRG on the cell surface of T-cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATP5A1 Gene COMPARTMENTS Subcellular localization image for ATP5A1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for ATP5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 1830491
GO:0005743 mitochondrial inner membrane IDA 19016746
GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA 12110673
GO:0005759 mitochondrial matrix TAS --
GO:0005886 plasma membrane IDA 10077593
genes like me logo Genes that share ontologies with ATP5A1: view

Pathways for ATP5A1 Gene

genes like me logo Genes that share pathways with ATP5A1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ATP5A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001937 negative regulation of endothelial cell proliferation IMP 10077593
GO:0006200 obsolete ATP catabolic process --
GO:0006629 lipid metabolic process ISS --
GO:0006754 ATP biosynthetic process NAS 1830491
GO:0009790 embryo development ISS --
genes like me logo Genes that share ontologies with ATP5A1: view

Compounds for ATP5A1 Gene

(4) HMDB Compounds for ATP5A1 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(5) Drugbank Compounds for ATP5A1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
1-ACETYL-2-CARBOXYPIPERIDINE
target
AUROVERTIN B
target
N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE
target
PICEATANNOL
target
Quercetin
117-39-5 target
genes like me logo Genes that share compounds with ATP5A1: view

Transcripts for ATP5A1 Gene

Unigene Clusters for ATP5A1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATP5A1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5A1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - - - -
SP8:
SP9: - - -
SP10: -

Relevant External Links for ATP5A1 Gene

GeneLoc Exon Structure for
ATP5A1
ECgene alternative splicing isoforms for
ATP5A1

Expression for ATP5A1 Gene

mRNA expression in normal human tissues for ATP5A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP5A1 Gene

This gene is overexpressed in Heart - Left Ventricle (5.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATP5A1 Gene

SOURCE GeneReport for Unigene cluster for ATP5A1 Gene Hs.298280

mRNA Expression by UniProt/SwissProt for ATP5A1 Gene

P25705-ATPA_HUMAN
Tissue specificity: Fetal lung, heart, liver, gut and kidney. Expressed at higher levels in the fetal brain, retina and spinal cord.
genes like me logo Genes that share expressions with ATP5A1: view

In Situ Assay Products

Orthologs for ATP5A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP5A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP5A1 35
  • 99.64 (n)
  • 100 (a)
ATP5A1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATP5A1 35
  • 92.15 (n)
  • 97.76 (a)
ATP5A1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP5A1 35
  • 92.77 (n)
  • 97.76 (a)
ATP5A1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atp5a1 35
  • 88.41 (n)
  • 97.64 (a)
Atp5a1 16
Atp5a1 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP5A1 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP5A1 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atp5a1 35
  • 87.74 (n)
  • 96.92 (a)
chicken
(Gallus gallus)
Aves ATP5A1 35
  • 82.7 (n)
  • 92.95 (a)
ATP5A1 36
  • 93 (a)
OneToMany
ATP5A1W 36
  • 91 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia ATP5A1 36
  • 94 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia atp5a1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atp5a1 35
  • 80.71 (n)
  • 92.95 (a)
Str.2749 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8549 35
zebrafish
(Danio rerio)
Actinopterygii atp5a1 35
  • 77.8 (n)
  • 91.47 (a)
atp5a1 36
  • 91 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005134 35
  • 72.43 (n)
  • 84.34 (a)
fruit fly
(Drosophila melanogaster)
Insecta blw 35
  • 72.83 (n)
  • 83.18 (a)
blw 36
  • 81 (a)
OneToOne
blw 37
  • 81 (a)
worm
(Caenorhabditis elegans)
Secernentea H28O16.1 35
  • 72.62 (n)
  • 84.13 (a)
T26E3.7 36
  • 48 (a)
OneToOne
H28O16.1 37
  • 84 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL272C 35
  • 65.53 (n)
  • 71.29 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP1 35
  • 65.75 (n)
  • 73.77 (a)
ATP1 36
  • 70 (a)
OneToOne
ATP1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06667g 35
  • 65.91 (n)
  • 71.13 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12890 35
soybean
(Glycine max)
eudicotyledons Gma.17682 35
thale cress
(Arabidopsis thaliana)
eudicotyledons atp1 35
  • 63.35 (n)
  • 69.92 (a)
rice
(Oryza sativa)
Liliopsida Os.25264 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02514 35
  • 64.68 (n)
  • 71.59 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atp1 35
  • 66.21 (n)
  • 72.16 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2102 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2550 36
  • 75 (a)
OneToOne
Species with no ortholog for ATP5A1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATP5A1 Gene

ENSEMBL:
Gene Tree for ATP5A1 (if available)
TreeFam:
Gene Tree for ATP5A1 (if available)

Paralogs for ATP5A1 Gene

genes like me logo Genes that share paralogs with ATP5A1: view

No data available for Paralogs for ATP5A1 Gene

Variants for ATP5A1 Gene

Sequence variations from dbSNP and Humsavar for ATP5A1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs15042 -- 46,084,207(-) AAAGG(G/T)TTACT utr-variant-3-prime
rs474878 -- 46,099,370(+) AGATT(C/G/T)GTGTG upstream-variant-2KB, intron-variant
rs519219 -- 46,083,997(-) ttttt(G/T)gtttt downstream-variant-500B
rs677896 -- 46,099,352(+) ATTTT(G/T)GTGAT upstream-variant-2KB, intron-variant
rs1262451 -- 46,093,372(-) ttttt(C/T)cctta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATP5A1 Gene

Variant ID Type Subtype PubMed ID
dgv594e199 CNV Deletion 23128226
esv2717032 CNV Deletion 23290073
dgv549n67 CNV Loss 20364138

Relevant External Links for ATP5A1 Gene

HapMap Linkage Disequilibrium report
ATP5A1
Human Gene Mutation Database (HGMD)
ATP5A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5A1 Gene

Disorders for ATP5A1 Gene

(1) OMIM Diseases for ATP5A1 Gene (164360)

UniProtKB/Swiss-Prot

ATPA_HUMAN
  • Combined oxidative phosphorylation deficiency 22 (COXPD22) [MIM:616045]: A mitochondrial disorder characterized by intrauterine growth retardation, microcephaly, hypotonia, pulmonary hypertension, failure to thrive, encephalopathy, and heart failure. {ECO:0000269 PubMed:23596069}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial complex V deficiency, nuclear 4 (MC5DN4) [MIM:615228]: A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. {ECO:0000269 PubMed:23599390}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ATP5A1

Genetic Association Database (GAD)
ATP5A1
Human Genome Epidemiology (HuGE) Navigator
ATP5A1
genes like me logo Genes that share disorders with ATP5A1: view

Publications for ATP5A1 Gene

  1. Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase. (PMID: 1830491) Kataoka H. … Biswas C. (Biochim. Biophys. Acta 1991) 2 3 4
  2. Comparative genomic hybridization analysis of Y79 and FISH mapping indicate the amplified human mitochondrial ATP synthase alpha-subunit gene (ATP5A) maps to chromosome 18q12-->q21. (PMID: 9284928) Godbout R. … Squire J.A. (Cytogenet. Cell Genet. 1997) 3 23
  3. The major protein expression profile and two-dimensional protein database of human heart. (PMID: 7498159) Kovalyov L.I. … Musalyamov A.K. (Electrophoresis 1995) 3 4
  4. Gene structure and cell type-specific expression of the human ATP synthase alpha subunit. (PMID: 8086450) Akiyama S. … Kagawa Y. (Biochim. Biophys. Acta 1994) 3 4
  5. Amplification of the gene encoding the alpha-subunit of the mitochondrial ATP synthase complex in a human retinoblastoma cell line. (PMID: 8428659) Godbout R. … Day R.S. III (Gene 1993) 3 4

Products for ATP5A1 Gene

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