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Aliases for ATPIF1 Gene

Aliases for ATPIF1 Gene

  • ATPase Inhibitory Factor 1 2 3 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 ATPIF1 Gene

Previous GeneCards Identifiers for ATPIF1 Gene

  • GC00U991040
  • GC01P027573
  • GC01P027795
  • GC01P028167
  • GC01P028435
  • GC01P028562
  • GC01P026819

Summaries for ATPIF1 Gene

Entrez Gene Summary for ATPIF1 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 ATPIF1 Gene

ATPIF1 (ATPase Inhibitory Factor 1) is a Protein Coding gene. Diseases associated with ATPIF1 include Fallopian Tube Adenocarcinoma. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Glucose / Energy Metabolism. GO annotations related to this gene include protein homodimerization activity and ATPase binding.

UniProtKB/Swiss-Prot for ATPIF1 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 ATPIF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATPIF1 Gene

Genomics for ATPIF1 Gene

Regulatory Elements for ATPIF1 Gene

Enhancers for ATPIF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F028162 0.9 Ensembl ENCODE 15.1 -72.4 -72353 1.7 SMARCA4 POLR2A LOC105376896 PTAFR ATPIF1 RNU6-176P EYA3 DNAJC8 PIR61473
GH01F028208 0.6 ENCODE 12.7 -27.0 -27037 0.2 CTCF PKNOX1 ARNT RAD21 ZNF143 SMC3 MAFK ZNF654 TRIM22 REST DNAJC8 ATPIF1 EYA3 TMEM200B RNU7-29P RNU6-176P PPP1R8 SCARNA1 RNU6-1245P PHACTR4
GH01F028258 0.6 ENCODE 11 +23.9 23878 3.7 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A YY1 ZNF416 ZNF207 ZNF143 SNHG12 TRNAU1AP LOC105376896 PHACTR4 DNAJC8 TMEM200B AHDC1 GMEB1 SNORA73B ACTG1P20
GH01F028255 0.8 ENCODE 11 +20.4 20382 1.1 HDGF HDAC1 ATF1 PKNOX1 TBL1XR1 ARNT CREB3L1 ZNF335 GTF3C2 GATA2 LOC105376896 PHACTR4 GMEB1 SNHG12 ACTG1P20 ENSG00000237934 ATPIF1 DNAJC8 ENSG00000231344 TRNAU1AP
GH01F028266 0.6 Ensembl ENCODE 11 +31.1 31100 0.7 HDGF ARNT CREB3L1 ZNF121 ELK1 GATA2 NCOA1 MBD2 SMARCA4 ETV4 MED18 ATPIF1 DNAJC8 PHACTR4 SESN2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ATPIF1 on UCSC Golden Path with GeneCards custom track

Promoters for ATPIF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000280821 209 2201 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF2 YY1 FOS CEBPZ

Genomic Location for ATPIF1 Gene

Chromosome:
1
Start:
28,236,091 bp from pter
End:
28,246,906 bp from pter
Size:
10,816 bases
Orientation:
Plus strand

Genomic View for ATPIF1 Gene

Genes around ATPIF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATPIF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATPIF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATPIF1 Gene

Proteins for ATPIF1 Gene

  • Protein details for ATPIF1 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 ATPIF1 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 ATPIF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATPIF1 Gene

Post-translational modifications for ATPIF1 Gene

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

Other Protein References for ATPIF1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ATPIF1 (ATPIF1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for ATPIF1

No data available for DME Specific Peptides for ATPIF1 Gene

Domains & Families for ATPIF1 Gene

Gene Families for ATPIF1 Gene

Protein Domains for ATPIF1 Gene

Suggested Antigen Peptide Sequences for ATPIF1 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 ATPIF1: view

Function for ATPIF1 Gene

Molecular function for ATPIF1 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.

Gene Ontology (GO) - Molecular Function for ATPIF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004857 enzyme inhibitor activity TAS 10664857
GO:0005516 calmodulin binding ISS --
GO:0030272 NOT 5-formyltetrahydrofolate cyclo-ligase activity IBA --
GO:0042030 ATPase inhibitor activity ISS,IMP --
GO:0042803 protein homodimerization activity TAS 24005319
genes like me logo Genes that share ontologies with ATPIF1: view
genes like me logo Genes that share phenotypes with ATPIF1: view

Animal Models for ATPIF1 Gene

MGI Knock Outs for ATPIF1:

Animal Model Products

miRNA for ATPIF1 Gene

miRTarBase miRNAs that target ATPIF1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATPIF1 Gene

Localization for ATPIF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATPIF1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATPIF1 Gene COMPARTMENTS Subcellular localization image for ATPIF1 gene
Compartment Confidence
mitochondrion 5
chloroplast 2
cytosol 1

Gene Ontology (GO) - Cellular Components for ATPIF1 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 ATPIF1: view

Pathways & Interactions for ATPIF1 Gene

genes like me logo Genes that share pathways with ATPIF1: view

Pathways by source for ATPIF1 Gene

1 Cell Signaling Technology pathway for ATPIF1 Gene
1 BioSystems pathway for ATPIF1 Gene

Gene Ontology (GO) - Biological Process for ATPIF1 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 ATPIF1: view

No data available for SIGNOR curated interactions for ATPIF1 Gene

Drugs & Compounds for ATPIF1 Gene

(1) Drugs for ATPIF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with ATPIF1: view

Transcripts for ATPIF1 Gene

Unigene Clusters for ATPIF1 Gene

ATPase inhibitory factor 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATPIF1 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: - - -
SP2: - -
SP3: -
SP4:

Relevant External Links for ATPIF1 Gene

GeneLoc Exon Structure for
ATPIF1
ECgene alternative splicing isoforms for
ATPIF1

Expression for ATPIF1 Gene

mRNA expression in normal human tissues for ATPIF1 Gene

Protein differential expression in normal tissues from HIPED for ATPIF1 Gene

This gene is overexpressed in Nasal epithelium (12.4), Heart (8.7), and Peripheral blood mononuclear cells (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATPIF1 Gene



Protein tissue co-expression partners for ATPIF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATPIF1 Gene:

ATPIF1

SOURCE GeneReport for Unigene cluster for ATPIF1 Gene:

Hs.744914
genes like me logo Genes that share expression patterns with ATPIF1: view

Primer Products

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 ATPIF1 Gene

Orthologs for ATPIF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ATPIF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATPIF1 34 35
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia ATPIF1 34 35
  • 83.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ATPIF1 35
  • 79 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATPIF1 34 35
  • 78.89 (n)
-- 35
  • 52 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Atpif1 34
  • 77.04 (n)
mouse
(Mus musculus)
Mammalia Atpif1 34 16 35
  • 76.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ATPIF1 35
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ATPIF1 35
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia atpif1 34
  • 61.59 (n)
zebrafish
(Danio rerio)
Actinopterygii atpif1a 34 35
  • 66.2 (n)
atpif1b 35
  • 50 (a)
OneToMany
Species where no ortholog for ATPIF1 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 ATPIF1 Gene

ENSEMBL:
Gene Tree for ATPIF1 (if available)
TreeFam:
Gene Tree for ATPIF1 (if available)

Paralogs for ATPIF1 Gene

No data available for Paralogs for ATPIF1 Gene

Variants for ATPIF1 Gene

Sequence variations from dbSNP and Humsavar for ATPIF1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1055776 -- 28,237,985(+) TGCAC(A/C/G)CCGTG utr-variant-3-prime
rs111636511 -- 28,234,140(+) AGAAG(-/GTTTT)GTTTT upstream-variant-2KB
rs112006347 -- 28,237,835(+) CTTGT(A/C/T)GAGCA utr-variant-3-prime, splice-acceptor-variant
rs112458804 -- 28,235,344(+) TTTTT(-/G)TTTTT upstream-variant-2KB
rs11299651 -- 28,235,002(+) TCATA(-/T)TTTTT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ATPIF1 Gene

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

Variation tolerance for ATPIF1 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)

Relevant External Links for ATPIF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATPIF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATPIF1 Gene

Disorders for ATPIF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATPIF1 Gene - From: DISEASES

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

Relevant External Links for ATPIF1

Genetic Association Database (GAD)
ATPIF1
Human Genome Epidemiology (HuGE) Navigator
ATPIF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATPIF1
genes like me logo Genes that share disorders with ATPIF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATPIF1 Gene

Publications for ATPIF1 Gene

  1. IF(1): setting the pace of the F(1)F(o)-ATP synthase. (PMID: 19559621) Campanella M. … Duchen M.R. (Trends Biochem. Sci. 2009) 2 3 4 64
  2. Nucleotide sequence of cDNA coding the mitochondrial precursor protein of the ATPase inhibitor from humans. (PMID: 10664857) Ichikawa N. … Masazumi Y. (Biosci. Biotechnol. Biochem. 1999) 2 3 4 64
  3. Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts. (PMID: 23135403) Shah D.I. … Paw B.H. (Nature 2012) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for ATPIF1 Gene

Sources for ATPIF1 Gene

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