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Aliases for ATP5IF1 Gene

Aliases for ATP5IF1 Gene

  • ATP Synthase Inhibitory Factor Subunit 1 2 3
  • ATPase Inhibitory Factor 1 2 3 5
  • ATPIF1 3 4 5
  • ATP Synthase Inhibitor Protein 2 3
  • Inhibitor Of F(1)F(O)-ATPase 3 4
  • ATPase Inhibitor Protein 2 3
  • IF(1) 3 4
  • ATPI 3 4
  • IF1 3 4
  • ATPase Inhibitor, Mitochondrial 3
  • ATPIP 3
  • IP 3

External Ids for ATP5IF1 Gene

Previous HGNC Symbols for ATP5IF1 Gene

  • ATPIF1

Summaries for ATP5IF1 Gene

Entrez Gene Summary for ATP5IF1 Gene

  • This gene encodes a mitochondrial ATPase inhibitor. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP5IF1 Gene

ATP5IF1 (ATP Synthase Inhibitory Factor Subunit 1) is a Protein Coding gene. Diseases associated with ATP5IF1 include Fallopian Tube Adenocarcinoma. Among its related pathways are Glucose / Energy Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins..

UniProtKB/Swiss-Prot for ATP5IF1 Gene

  • Endogenous F(1)F(o)-ATPase inhibitor limiting ATP depletion when the mitochondrial membrane potential falls below a threshold and the F(1)F(o)-ATP synthase starts hydrolyzing ATP to pump protons out of the mitochondrial matrix. Required to avoid the consumption of cellular ATP when the F(1)F(o)-ATP synthase enzyme acts as an ATP hydrolase. Indirectly acts as a regulator of heme synthesis in erythroid tissues: regulates heme synthesis by modulating the mitochondrial pH and redox potential, allowing FECH to efficiently catalyze the incorporation of iron into protoporphyrin IX to produce heme.

Gene Wiki entry for ATP5IF1 Gene

Additional gene information for ATP5IF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5IF1 Gene

Genomics for ATP5IF1 Gene

GeneHancer (GH) Regulatory Elements for ATP5IF1 Gene

Promoters and enhancers for ATP5IF1 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
GH01I028235 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.5 476 3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 ATP5IF1 PIR45679 ENSG00000270605 YTHDF2 GMEB1 ACTG1P20 SRSF4 RCC1 ENSG00000237934 FAM76A
GH01I028258 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11 +23.9 23877 3.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A YY1 POLR2B ZNF766 ZNF213 SESN2 SRSF4 SNHG12 TRNAU1AP GMEB1 YTHDF2 PHACTR4 DNAJC8 ACTG1P20 ENSG00000270605
GH01I028152 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.7 -82.0 -82015 2.3 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A ZNF48 ETS1 ZNF766 GATA2 PTAFR XKR8 THEMIS2 EYA3 DNAJC8 ATP5IF1 SESN2 MED18 STX12 PIR61473
GH01I028125 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -108.5 -108461 4.5 PKNOX1 ZSCAN4 BMI1 BATF IRF4 ATF7 ETV6 FOS BCLAF1 IKZF2 PTAFR EYA3 DNAJC8 FGR ATP5IF1 PPP1R8 SCARNA1 RNU6-1245P THEMIS2 SESN2
GH01I028295 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.7 +60.8 60788 2.7 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 ENSG00000270605 SESN2 MED18 PHACTR4 PTAFR ATP5IF1 DNAJC8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP5IF1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ATP5IF1 Gene

Genomic Locations for ATP5IF1 Gene
chr1:28,236,091-28,246,906
(GRCh38/hg38)
Size:
10,816 bases
Orientation:
Plus strand
chr1:28,562,602-28,573,417
(GRCh37/hg19)

Genomic View for ATP5IF1 Gene

Genes around ATP5IF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5IF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5IF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5IF1 Gene

Proteins for ATP5IF1 Gene

  • Protein details for ATP5IF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UII2-ATIF1_HUMAN
    Recommended name:
    ATPase inhibitor, mitochondrial
    Protein Accession:
    Q9UII2
    Secondary Accessions:
    • Q5JXL8
    • Q6IAQ7
    • Q9BSL9

    Protein attributes for ATP5IF1 Gene

    Size:
    106 amino acids
    Molecular mass:
    12249 Da
    Quaternary structure:
    • Homodimer; represents the active form and is present at a pH value below 6.5. Homotetramer; represents the inactive form and is present at a pH value above 7.0 (By similarity).
    SequenceCaution:
    • Sequence=AAH04955.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for ATP5IF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP5IF1 Gene

Post-translational modifications for ATP5IF1 Gene

  • Exhibits variability in chain length, mitochondria have distinct pools of protein cleaved after the 24th, 25th, and 26th amino acid.

Other Protein References for ATP5IF1 Gene

No data available for DME Specific Peptides for ATP5IF1 Gene

Domains & Families for ATP5IF1 Gene

Gene Families for ATP5IF1 Gene

Protein Domains for ATP5IF1 Gene

Suggested Antigen Peptide Sequences for ATP5IF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UII2

UniProtKB/Swiss-Prot:

ATIF1_HUMAN :
  • Forms an alpha-helical dimer with monomers associated via an antiparallel alpha-helical coiled coil composed of residues 74-106, leaving each N-terminal inhibitory region (residues 26-52) accessible for interaction with an F1 catalytic domain. The inhibitory N-terminal region (residues 26-52) binds the alpha(ADP-bound)-beta(ADP-bound) (ATP5A1-ATP5B) interface of F1-ATPase, and also contact the central gamma subunit (ATP5C1). This dimeric state is favored by pH values below 7.0, and at higher values the dimers associate to form inactive homotetramer, where the inhibitory region is occluded, masking its inhibitory activity (By similarity).
  • Belongs to the ATPase inhibitor family.
Domain:
  • Forms an alpha-helical dimer with monomers associated via an antiparallel alpha-helical coiled coil composed of residues 74-106, leaving each N-terminal inhibitory region (residues 26-52) accessible for interaction with an F1 catalytic domain. The inhibitory N-terminal region (residues 26-52) binds the alpha(ADP-bound)-beta(ADP-bound) (ATP5A1-ATP5B) interface of F1-ATPase, and also contact the central gamma subunit (ATP5C1). This dimeric state is favored by pH values below 7.0, and at higher values the dimers associate to form inactive homotetramer, where the inhibitory region is occluded, masking its inhibitory activity (By similarity).
Family:
  • Belongs to the ATPase inhibitor family.
genes like me logo Genes that share domains with ATP5IF1: view

Function for ATP5IF1 Gene

Molecular function for ATP5IF1 Gene

UniProtKB/Swiss-Prot Function:
Endogenous F(1)F(o)-ATPase inhibitor limiting ATP depletion when the mitochondrial membrane potential falls below a threshold and the F(1)F(o)-ATP synthase starts hydrolyzing ATP to pump protons out of the mitochondrial matrix. Required to avoid the consumption of cellular ATP when the F(1)F(o)-ATP synthase enzyme acts as an ATP hydrolase. Indirectly acts as a regulator of heme synthesis in erythroid tissues: regulates heme synthesis by modulating the mitochondrial pH and redox potential, allowing FECH to efficiently catalyze the incorporation of iron into protoporphyrin IX to produce heme.

Phenotypes From GWAS Catalog for ATP5IF1 Gene

Gene Ontology (GO) - Molecular Function for ATP5IF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity TAS 10664857
GO:0005516 calmodulin binding ISS --
GO:0019899 enzyme binding IPI 21106936
GO:0030272 NOT 5-formyltetrahydrofolate cyclo-ligase activity IBA --
GO:0042030 ATPase inhibitor activity IMP,ISS --
genes like me logo Genes that share ontologies with ATP5IF1: view
genes like me logo Genes that share phenotypes with ATP5IF1: view

Animal Models for ATP5IF1 Gene

MGI Knock Outs for ATP5IF1:

Animal Model Products

miRNA for ATP5IF1 Gene

miRTarBase miRNAs that target ATP5IF1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP5IF1 Gene

Localization for ATP5IF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5IF1 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 ATP5IF1 gene
Compartment Confidence
mitochondrion 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP5IF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS,TAS --
GO:0005753 colocalizes_with mitochondrial proton-transporting ATP synthase complex IDA 12110673
GO:0009986 cell surface IDA 15528193
genes like me logo Genes that share ontologies with ATP5IF1: view

Pathways & Interactions for ATP5IF1 Gene

genes like me logo Genes that share pathways with ATP5IF1: view

Pathways by source for ATP5IF1 Gene

1 Cell Signaling Technology pathway for ATP5IF1 Gene
1 BioSystems pathway for ATP5IF1 Gene

Gene Ontology (GO) - Biological Process for ATP5IF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis TAS 15528193
GO:0001937 negative regulation of endothelial cell proliferation IDA 15528193
GO:0006091 generation of precursor metabolites and energy TAS 10664857
GO:0006783 heme biosynthetic process IMP 23135403
GO:0009396 NOT folic acid-containing compound biosynthetic process IBA --
genes like me logo Genes that share ontologies with ATP5IF1: view

No data available for SIGNOR curated interactions for ATP5IF1 Gene

Drugs & Compounds for ATP5IF1 Gene

No Compound Related Data Available

Transcripts for ATP5IF1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5IF1 Gene

No ASD Table

Relevant External Links for ATP5IF1 Gene

GeneLoc Exon Structure for
ATP5IF1
ECgene alternative splicing isoforms for
ATP5IF1

Expression for ATP5IF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATP5IF1 Gene:

ATP5IF1

Evidence on tissue expression from TISSUES for ATP5IF1 Gene

  • Heart(4.7)
  • Nervous system(4.5)
  • Lung(4.4)
  • Muscle(3.1)
  • Intestine(2.5)
  • Liver(2.5)
  • Kidney(2.4)
  • Bone marrow(2)
  • Pancreas(2)
  • Stomach(2)
No Expression Related Data Available

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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5IF1 Gene

Orthologs for ATP5IF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATP5IF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATPIF1 33 34
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia ATPIF1 33 34
  • 83.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATPIF1 34
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATPIF1 33 34
  • 78.89 (n)
-- 34
  • 52 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atpif1 33
  • 77.04 (n)
mouse
(Mus musculus)
Mammalia Atpif1 33 16 34
  • 76.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ATPIF1 34
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATPIF1 34
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atpif1 33
  • 61.59 (n)
zebrafish
(Danio rerio)
Actinopterygii atpif1a 33 34
  • 66.2 (n)
atpif1b 34
  • 50 (a)
OneToMany
Species where no ortholog for ATP5IF1 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)
  • 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ATP5IF1 Gene

ENSEMBL:
Gene Tree for ATP5IF1 (if available)
TreeFam:
Gene Tree for ATP5IF1 (if available)

Paralogs for ATP5IF1 Gene

No data available for Paralogs for ATP5IF1 Gene

Variants for ATP5IF1 Gene

Sequence variations from dbSNP and Humsavar for ATP5IF1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000733210 -- 28,238,505(+) TAT/T downstream_transcript_variant
rs1001815117 -- 28,238,173(+) G/A downstream_transcript_variant
rs1002789144 -- 28,236,927(+) A/G 3_prime_UTR_variant, intron_variant
rs1003494926 -- 28,236,945(+) G/T 3_prime_UTR_variant, intron_variant
rs1003777523 -- 28,235,907(+) A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP5IF1 Gene

Variant ID Type Subtype PubMed ID
nsv545916 CNV gain 21841781
nsv545917 CNV loss 21841781
nsv819729 CNV loss 19587683

Variation tolerance for ATP5IF1 Gene

Residual Variation Intolerance Score: 39.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.27; 6.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5IF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5IF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5IF1 Gene

Disorders for ATP5IF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATP5IF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fallopian tube adenocarcinoma
  • adenocarcinoma of the fallopian tube
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP5IF1

genes like me logo Genes that share disorders with ATP5IF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP5IF1 Gene

Publications for ATP5IF1 Gene

  1. IF(1): setting the pace of the F(1)F(o)-ATP synthase. (PMID: 19559621) Campanella M … Duchen MR (Trends in biochemical sciences 2009) 2 3 4 58
  2. Nucleotide sequence of cDNA coding the mitochondrial precursor protein of the ATPase inhibitor from humans. (PMID: 10664857) Ichikawa N … Masazumi Y (Bioscience, biotechnology, and biochemistry 1999) 2 3 4 58
  3. Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts. (PMID: 23135403) Shah DI … Paw BH (Nature 2012) 3 4 58
  4. The inhibitor protein of the F1F0-ATP synthase is associated to the external surface of endothelial cells. (PMID: 15809073) Cortés-Hernández P … García JJ (Biochemical and biophysical research communications 2005) 3 22 58
  5. An Inhibitor of the F1 subunit of ATP synthase (IF1) modulates the activity of angiostatin on the endothelial cell surface. (PMID: 15528193) Burwick NR … Pizzo SV (The Journal of biological chemistry 2005) 3 4 58

Products for ATP5IF1 Gene

Sources for ATP5IF1 Gene

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