This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011] See more...

Aliases for ATPAF1 Gene

Aliases for ATPAF1 Gene

  • ATP Synthase Mitochondrial F1 Complex Assembly Factor 1 2 3 4 5
  • ATP11 3 4
  • Homolog Of Yeast ATP11 3
  • ATP11 Homolog 4
  • ATP11p 3

External Ids for ATPAF1 Gene

Previous GeneCards Identifiers for ATPAF1 Gene

  • GC01M046794
  • GC01M046055
  • GC01M046487
  • GC01M046470
  • GC01M046812
  • GC01M046870
  • GC01M047098
  • GC01M045213

Summaries for ATPAF1 Gene

Entrez Gene Summary for ATPAF1 Gene

  • This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

GeneCards Summary for ATPAF1 Gene

ATPAF1 (ATP Synthase Mitochondrial F1 Complex Assembly Factor 1) is a Protein Coding gene. Diseases associated with ATPAF1 include Isolated Atp Synthase Deficiency.

UniProtKB/Swiss-Prot Summary for ATPAF1 Gene

  • May play an essential role for the assembly of the mitochondrial F1-F0 complex.

Gene Wiki entry for ATPAF1 Gene

Additional gene information for ATPAF1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATPAF1 Gene

Genomics for ATPAF1 Gene

GeneHancer (GH) Regulatory Elements for ATPAF1 Gene

Promoters and enhancers for ATPAF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATPAF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATPAF1 gene promoter:
  • Egr-2
  • HFH-1
  • NF-kappaB
  • POU2F1
  • POU2F1a
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RSRFC4
  • YY1

Genomic Locations for ATPAF1 Gene

Genomic Locations for ATPAF1 Gene
chr1:46,632,737-46,673,867
(GRCh38/hg38)
Size:
41,131 bases
Orientation:
Minus strand
chr1:47,098,409-47,139,539
(GRCh37/hg19)
Size:
41,131 bases
Orientation:
Minus strand

Genomic View for ATPAF1 Gene

Genes around ATPAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATPAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATPAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATPAF1 Gene

Proteins for ATPAF1 Gene

  • Protein details for ATPAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TC12-ATPF1_HUMAN
    Recommended name:
    ATP synthase mitochondrial F1 complex assembly factor 1
    Protein Accession:
    Q5TC12
    Secondary Accessions:
    • B1AQW7
    • B7Z7D6
    • B7Z7I6
    • Q9H6E3

    Protein attributes for ATPAF1 Gene

    Size:
    328 amino acids
    Molecular mass:
    36437 Da
    Quaternary structure:
    • Interacts with ATP5B.

    Alternative splice isoforms for ATPAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATPAF1 Gene

Post-translational modifications for ATPAF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATPAF1 Gene

Domains & Families for ATPAF1 Gene

Gene Families for ATPAF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ATPAF1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ATPAF1 Gene

GenScript: Design optimal peptide antigens:
  • ATP11 homolog (ATPF1_HUMAN)
  • cDNA FLJ50725, highly similar to Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), mRNA (B7Z7D6_HUMAN)
  • cDNA FLJ52027, highly similar to Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 1 (ATPAF1), mRNA (B7Z7I6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5TC12

UniProtKB/Swiss-Prot:

ATPF1_HUMAN :
  • Belongs to the ATP11 family.
Family:
  • Belongs to the ATP11 family.
genes like me logo Genes that share domains with ATPAF1: view

Function for ATPAF1 Gene

Molecular function for ATPAF1 Gene

UniProtKB/Swiss-Prot Function:
May play an essential role for the assembly of the mitochondrial F1-F0 complex.

Gene Ontology (GO) - Molecular Function for ATPAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11410595
genes like me logo Genes that share ontologies with ATPAF1: view
genes like me logo Genes that share phenotypes with ATPAF1: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATPAF1 Gene

Localization for ATPAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATPAF1 Gene

Mitochondrion.

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 ATPAF1 gene
Compartment Confidence
mitochondrion 4
nucleus 2
extracellular 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATPAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA 21873635
genes like me logo Genes that share ontologies with ATPAF1: view

Pathways & Interactions for ATPAF1 Gene

PathCards logo

SuperPathways for ATPAF1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ATPAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly IBA 21873635
GO:0065003 protein-containing complex assembly IEA --
genes like me logo Genes that share ontologies with ATPAF1: view

No data available for Pathways by source and SIGNOR curated interactions for ATPAF1 Gene

Drugs & Compounds for ATPAF1 Gene

No Compound Related Data Available

Transcripts for ATPAF1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATPAF1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b
SP1: - -
SP2: - - - -
SP3: -
SP4: - - - - - -
SP5:

Relevant External Links for ATPAF1 Gene

GeneLoc Exon Structure for
ATPAF1
ECgene alternative splicing isoforms for
ATPAF1

Expression for ATPAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATPAF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ATPAF1 Gene

This gene is overexpressed in Urine (15.9), Heart (8.9), and Tonsil (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATPAF1 Gene



Protein tissue co-expression partners for ATPAF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ATPAF1 Gene:

ATPAF1

SOURCE GeneReport for Unigene cluster for ATPAF1 Gene:

Hs.100874

mRNA Expression by UniProt/SwissProt for ATPAF1 Gene:

Q5TC12-ATPF1_HUMAN
Tissue specificity: Weakly expressed in muscle.

Evidence on tissue expression from TISSUES for ATPAF1 Gene

  • Nervous system(4.8)
  • Skin(4.2)
  • Blood(4.1)
  • Muscle(2.5)
  • Heart(2.2)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATPAF1 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:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with ATPAF1: view

No data available for mRNA differential expression in normal tissues for ATPAF1 Gene

Orthologs for ATPAF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATPAF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATPAF1 32
  • 99.86 (n)
dog
(Canis familiaris)
Mammalia ATPAF1 33 32
  • 92.31 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ATPAF1 33 32
  • 92.1 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Atpaf1 17 33 32
  • 88.7 (n)
rat
(Rattus norvegicus)
Mammalia Atpaf1 32
  • 88.41 (n)
oppossum
(Monodelphis domestica)
Mammalia ATPAF1 33
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATPAF1 33
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATPAF1 33 32
  • 69.86 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATPAF1 33
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atpaf1 32
  • 65.75 (n)
Str.13192 32
zebrafish
(Danio rerio)
Actinopterygii atpaf1 33 32
  • 64.66 (n)
OneToOne
idibd1136 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004641 32
  • 50.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10340 33 32
  • 47.46 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ATP11 35 33
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2656 33
  • 31 (a)
OneToOne
Species where no ortholog for ATPAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATPAF1 Gene

ENSEMBL:
Gene Tree for ATPAF1 (if available)
TreeFam:
Gene Tree for ATPAF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATPAF1: view image

Paralogs for ATPAF1 Gene

(1) SIMAP similar genes for ATPAF1 Gene using alignment to 9 proteins:

  • ATPF1_HUMAN
  • A8MRA7_HUMAN
  • E9PPX6_HUMAN
  • H0YCA6_HUMAN
  • H0YD21_HUMAN
  • H0YDD6_HUMAN
  • H0YEW4_HUMAN
  • I3L1W9_HUMAN
  • I3L448_HUMAN
genes like me logo Genes that share paralogs with ATPAF1: view

No data available for Paralogs for ATPAF1 Gene

Variants for ATPAF1 Gene

Sequence variations from dbSNP and Humsavar for ATPAF1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000007667 -- 46,665,775(-) A/G 5_prime_UTR_variant, intron_variant
rs1000123089 -- 46,666,098(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000131378 -- 46,637,355(-) G/A/C intron_variant
rs1000334676 -- 46,669,985(-) G/C upstream_transcript_variant
rs1000422655 -- 46,663,130(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ATPAF1 Gene

Variant ID Type Subtype PubMed ID
nsv1007280 CNV gain 25217958

Variation tolerance for ATPAF1 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATPAF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATPAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATPAF1 Gene

Disorders for ATPAF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATPAF1 Gene - From: Orphanet

Disorder Aliases PubMed IDs
isolated atp synthase deficiency
  • isolated mitochondrial respiratory chain complex v deficiency
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATPAF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATPAF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATPAF1 Gene

Publications for ATPAF1 Gene

  1. Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. (PMID: 11410595) Wang ZG … Ackerman SH (The Journal of biological chemistry 2001) 2 3 4 56
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56
  4. Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues. (PMID: 12965202) Picková A … Houstek J (FEBS letters 2003) 3 4 56
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 56

Products for ATPAF1 Gene

Sources for ATPAF1 Gene