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Aliases for ATP5F1A Gene

Aliases for ATP5F1A Gene

  • ATP Synthase F1 Subunit Alpha 2 3 4 5
  • 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
  • ATP Synthase, H+ Transporting, Mitochondrial F1 Complex, Alpha Subunit 1, Cardiac Muscle 2 3
  • ATP5AL2 3 4
  • ATP5A1 3 4
  • ATP5A 3 4
  • ATPM 3 4
  • 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
  • HEL-S-123m 3
  • COXPD22 3
  • MC5DN4 3
  • HATP1 3
  • MOM2 3
  • OMR 3
  • ORM 3

External Ids for ATP5F1A Gene

Previous HGNC Symbols for ATP5F1A Gene

  • ATP5AL2
  • ATPM
  • ATP5A1

Summaries for ATP5F1A Gene

Entrez Gene Summary for ATP5F1A 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 ATP5F1A Gene

ATP5F1A (ATP Synthase F1 Subunit Alpha) is a Protein Coding gene. Diseases associated with ATP5F1A include Combined Oxidative Phosphorylation Deficiency 22 and Mitochondrial Complex V Deficiency, Nuclear Type 4. Among its related pathways are Metabolism and purine nucleotides de novo biosynthesis.

UniProtKB/Swiss-Prot for ATP5F1A 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 ATP5F1A Gene

Additional gene information for ATP5F1A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5F1A Gene

Genomics for ATP5F1A Gene

GeneHancer (GH) Regulatory Elements for ATP5F1A Gene

Promoters and enhancers for ATP5F1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J046096 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 665.6 +6.5 6486 2.9 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF207 ZNF143 ATP5F1A GC18P046096 HAUS1 RNY4P37 PSTPIP2 RN7SKP26 EPG5
GH18J046103 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.2 -240 1.7 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ETS1 ZNF121 POLR2B GLIS2 HAUS1 ATP5F1A RNU6-1278P GC18M046122
GH18J046068 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 15.4 +33.7 33730 4 PKNOX1 ATF1 SIN3A ZNF2 IRF4 ZNF48 GLIS2 ZNF143 ZFP91 RUNX3 PSTPIP2 HAUS1 ATP5F1A LOC100422497
GH18J046074 Enhancer 0.7 ENCODE dbSUPER 15.3 +30.7 30684 0.2 CTCF GLIS1 TRIM22 PRDM10 PSTPIP2 ATP5F1A RNY4P37 GC18M046078
GH18J046248 Enhancer 1.4 FANTOM5 Ensembl ENCODE 6.7 -145.7 -145682 3.8 PKNOX1 ATF1 IRF4 YY1 FOS ATF7 RUNX3 SP3 YY2 JUNB ENSG00000267724 IER3IP1 PSTPIP2 C18orf25 ATP5F1A EPG5 GC18P046277
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP5F1A on UCSC Golden Path with GeneCards custom track

Genomic Locations for ATP5F1A Gene

Genomic Locations for ATP5F1A Gene
chr18:46,080,248-46,104,334
(GRCh38/hg38)
Size:
24,087 bases
Orientation:
Minus strand
chr18:43,664,110-43,684,300
(GRCh37/hg19)
Size:
20,191 bases
Orientation:
Minus strand

Genomic View for ATP5F1A Gene

Genes around ATP5F1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5F1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5F1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5F1A Gene

Proteins for ATP5F1A Gene

  • Protein details for ATP5F1A 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 ATP5F1A 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 (PubMed:11410595). Interacts with HRG; the interaction occurs on the surface of T-cells and alters the cell morphology when associated with concanavalin (in vitro) (PubMed:19285951). Interacts with PLG (angiostatin peptide); the interaction inhibits most of the angiogenic properties of angiostatin (PubMed:10077593). Component of an ATP synthase complex composed of ATP5F1, ATP5MC1, ATP5F1E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5O, ATP5L, USMG5 and MP68. Interacts with BLOC1S1 (PubMed:22309213). 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. Interacts with CLN5 and PPT1 (By similarity).

    Alternative splice isoforms for ATP5F1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP5F1A Gene

Post-translational modifications for ATP5F1A Gene

No data available for DME Specific Peptides for ATP5F1A Gene

Domains & Families for ATP5F1A Gene

Gene Families for ATP5F1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ATP5F1A Gene

Graphical View of Domain Structure for InterPro Entry

P25705

UniProtKB/Swiss-Prot:

ATPA_HUMAN :
  • Belongs to the ATPase alpha/beta chains family.
Family:
  • Belongs to the ATPase alpha/beta chains family.
genes like me logo Genes that share domains with ATP5F1A: view

Function for ATP5F1A Gene

Molecular function for ATP5F1A 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. 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).

Phenotypes From GWAS Catalog for ATP5F1A Gene

Gene Ontology (GO) - Molecular Function for ATP5F1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 10077593
GO:0005524 ATP binding ISS --
GO:0016887 contributes_to ATPase activity IDA 12110673
GO:0022857 transmembrane transporter activity IC 12110673
genes like me logo Genes that share ontologies with ATP5F1A: view
genes like me logo Genes that share phenotypes with ATP5F1A: view

Human Phenotype Ontology for ATP5F1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP5F1A Gene

MGI Knock Outs for ATP5F1A:
  • Atp5a1 Atp5a1<tm1a(EUCOMM)Wtsi>

Animal Model Products

miRNA for ATP5F1A Gene

miRTarBase miRNAs that target ATP5F1A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ATP5F1A Gene

Localization for ATP5F1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5F1A Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side. Cell membrane; Peripheral membrane protein; Extracellular side. Note=Colocalizes with HRG on the cell surface of T-cells (PubMed:19285951). {ECO:0000269 PubMed:19285951}.

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 ATP5F1A gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 5
cytosol 2
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP5F1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion NAS 1830491
GO:0005743 mitochondrial inner membrane IEA,IDA 19016746
GO:0005753 mitochondrial proton-transporting ATP synthase complex IDA 12110673
GO:0005759 mitochondrial matrix TAS --
GO:0005886 plasma membrane IEA,IDA 10077593
genes like me logo Genes that share ontologies with ATP5F1A: view

Pathways & Interactions for ATP5F1A Gene

genes like me logo Genes that share pathways with ATP5F1A: view

Gene Ontology (GO) - Biological Process for ATP5F1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001937 negative regulation of endothelial cell proliferation IMP 10077593
GO:0006629 lipid metabolic process ISS --
GO:0006754 ATP biosynthetic process IMP,TAS --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IEA --
genes like me logo Genes that share ontologies with ATP5F1A: view

No data available for SIGNOR curated interactions for ATP5F1A Gene

Drugs & Compounds for ATP5F1A Gene

(10) Drugs for ATP5F1A Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Approved, Investigational Pharma Target, ligand 100
Water Approved Pharma 0
1-ACETYL-2-CARBOXYPIPERIDINE Experimental Pharma Target 0
AUROVERTIN B Experimental Pharma Target 0
N1-(2-AMINO-4-METHYLPENTYL)OCTAHYDRO-PYRROLO[1,2-A] PYRIMIDINE Experimental Pharma Target 0

(2) Additional Compounds for ATP5F1A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14265-44-2
genes like me logo Genes that share compounds with ATP5F1A: view

Transcripts for ATP5F1A Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5F1A Gene

No ASD Table

Relevant External Links for ATP5F1A Gene

GeneLoc Exon Structure for
ATP5F1A
ECgene alternative splicing isoforms for
ATP5F1A

Expression for ATP5F1A Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP5F1A Gene:

ATP5F1A

mRNA Expression by UniProt/SwissProt for ATP5F1A 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.

Evidence on tissue expression from TISSUES for ATP5F1A Gene

  • Eye(5)
  • Heart(5)
  • Intestine(5)
  • Nervous system(5)
  • Liver(4.9)
  • Lung(4.9)
  • Kidney(4.8)
  • Skin(4.6)
  • Muscle(4.5)
  • Stomach(4.5)
  • Blood(4.3)
  • Spleen(4)
  • Pancreas(3.6)
  • Thyroid gland(3)
  • Adrenal gland(2.8)
  • Bone marrow(2.8)
  • Gall bladder(2.8)
  • Lymph node(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5F1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • ear
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
Pelvis:
  • penis
  • testicle
  • urethra
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ATP5F1A Gene

Orthologs for ATP5F1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP5F1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP5A1 34 33
  • 99.64 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATP5A1 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP5A1 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATP5A1 34 33
  • 92.77 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATP5A1 34 33
  • 92.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atp5a1 16 34 33
  • 88.41 (n)
rat
(Rattus norvegicus)
Mammalia Atp5a1 33
  • 87.74 (n)
chicken
(Gallus gallus)
Aves ATP5A1W 34
  • 91 (a)
OneToMany
ATP5A1 34 33
  • 82.7 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia ATP5A1 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atp5a1 33
  • 80.71 (n)
Str.2749 33
African clawed frog
(Xenopus laevis)
Amphibia atp5a1-prov 33
zebrafish
(Danio rerio)
Actinopterygii atp5a1 34 33
  • 77.8 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8549 33
fruit fly
(Drosophila melanogaster)
Insecta blw 34 33
  • 72.83 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005134 33
  • 72.43 (n)
worm
(Caenorhabditis elegans)
Secernentea H28O16.1 33
  • 72.62 (n)
T26E3.7 34
  • 48 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E06667g 33
  • 65.91 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP1 36 34 33
  • 65.75 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL272C 33
  • 65.53 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons atp1 33
  • 63.35 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.12890 33
soybean
(Glycine max)
eudicotyledons Gma.17682 33
rice
(Oryza sativa)
Liliopsida Os.25264 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2550 34
  • 75 (a)
OneToOne
Cin.2102 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes atp1 33
  • 66.21 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02514 33
  • 64.68 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2102 33
Species where no ortholog for ATP5F1A was found in the sources mined by GeneCards:
  • 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 ATP5F1A Gene

ENSEMBL:
Gene Tree for ATP5F1A (if available)
TreeFam:
Gene Tree for ATP5F1A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP5F1A: view image

Paralogs for ATP5F1A Gene

genes like me logo Genes that share paralogs with ATP5F1A: view

No data available for Paralogs for ATP5F1A Gene

Variants for ATP5F1A Gene

Sequence variations from dbSNP and Humsavar for ATP5F1A Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs202110837 likely-benign, not specified, not provided 46,089,808(-) G/A intron_variant
rs587776960 pathogenic, Mitochondrial complex v (atp synthase) deficiency, nuclear type 4, Mitochondrial complex V deficiency, nuclear 4 (MC5DN4) [MIM:615228] 46,087,199(-) G/A coding_sequence_variant, missense_variant
rs587777788 pathogenic, Combined oxidative phosphorylation deficiency 22, Combined oxidative phosphorylation deficiency 22 (COXPD22) [MIM:616045] 46,087,222(-) T/A/C coding_sequence_variant, missense_variant
rs141639003 likely-benign, not provided 46,098,207(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs117126269 likely-benign, not specified 46,086,094(-) G/A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP5F1A Gene

Variant ID Type Subtype PubMed ID
dgv549n67 CNV loss 20364138
dgv594e199 CNV deletion 23128226
esv2717032 CNV deletion 23290073
esv3642420 CNV gain 21293372
esv3642421 CNV loss 21293372
esv3642422 CNV gain 21293372
esv3642424 CNV gain 21293372
esv3642425 CNV loss 21293372
nsv1133249 CNV tandem duplication 24896259

Variation tolerance for ATP5F1A Gene

Residual Variation Intolerance Score: 31.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.60; 56.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5F1A Gene

Human Gene Mutation Database (HGMD)
ATP5F1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5F1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5F1A Gene

Disorders for ATP5F1A Gene

MalaCards: The human disease database

(7) MalaCards diseases for ATP5F1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 22
  • coxpd22
mitochondrial complex v deficiency, nuclear type 4
  • mc5dn4
isolated atp synthase deficiency
  • isolated mitochondrial respiratory chain complex v deficiency
mitochondrial complex v deficiency
  • mitochondrial complex v deficiency
schizophrenia 14
  • sczd14
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for ATP5F1A

genes like me logo Genes that share disorders with ATP5F1A: view

No data available for Genatlas for ATP5F1A Gene

Publications for ATP5F1A Gene

  1. Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase. (PMID: 1830491) Kataoka H … Biswas C (Biochimica et biophysica acta 1991) 2 3 4 58
  2. A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. (PMID: 23599390) Jonckheere AI … Rodenburg RJ (Brain : a journal of neurology 2013) 3 4 58
  3. Targeted exome sequencing of suspected mitochondrial disorders. (PMID: 23596069) Lieber DS … Mootha VK (Neurology 2013) 3 4 58
  4. Identification of a molecular component of the mitochondrial acetyltransferase programme: a novel role for GCN5L1. (PMID: 22309213) Scott I … Sack MN (The Biochemical journal 2012) 3 4 58
  5. High affinity interaction between histidine-rich glycoprotein and the cell surface type ATP synthase on T-cells. (PMID: 19285951) Ohta T … Wakabayashi S (Biochimica et biophysica acta 2009) 3 4 58

Products for ATP5F1A Gene

Sources for ATP5F1A Gene

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