The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is though... See more...

Aliases for PPIF Gene

Aliases for PPIF Gene

  • Peptidylprolyl Isomerase F 2 3 5
  • Cyclophilin D 2 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase F, Mitochondrial 3 4
  • Mitochondrial Cyclophilin 3 4
  • Cyclophilin F 3 4
  • Rotamase F 3 4
  • EC 5.2.1.8 4 54
  • PPIase F 3 4
  • CyP-M 3 4
  • CYP3 3 4
  • CypD 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase, Mitochondrial 3
  • Peptidylprolyl Isomerase F (Cyclophilin F) 2
  • Cyclophilin 3 3
  • Cyp-D 3
  • CyP-D 4

External Ids for PPIF Gene

Previous GeneCards Identifiers for PPIF Gene

  • GC10P080064
  • GC10P080316
  • GC10P080999
  • GC10P080451
  • GC10P080777
  • GC10P081107
  • GC10P075101
  • GC10P079349
  • GC10P081949
  • GC10P082113
  • GC10P079465
  • GC10P079466
  • GC10P080330
  • GC10P081513
  • GC10P081845

Summaries for PPIF Gene

Entrez Gene Summary for PPIF Gene

  • The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is part of the mitochondrial permeability transition pore in the inner mitochondrial membrane. Activation of this pore is thought to be involved in the induction of apoptotic and necrotic cell death. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPIF Gene

PPIF (Peptidylprolyl Isomerase F) is a Protein Coding gene. Diseases associated with PPIF include Ischemia. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and cGMP-PKG signaling pathway. Gene Ontology (GO) annotations related to this gene include peptide binding and cyclosporin A binding. An important paralog of this gene is PPIA.

UniProtKB/Swiss-Prot Summary for PPIF Gene

  • PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Involved in regulation of the mitochondrial permeability transition pore (mPTP). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probability of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated. In cooperation with mitochondrial TP53 is involved in activating oxidative stress-induced necrosis. Involved in modulation of mitochondrial membrane F(1)F(0) ATP synthase activity and regulation of mitochondrial matrix adenine nucleotide levels. Has anti-apoptotic activity independently of mPTP and in cooperation with BCL2 inhibits cytochrome c-dependent apoptosis.

Gene Wiki entry for PPIF Gene

Additional gene information for PPIF Gene

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

Genomics for PPIF Gene

GeneHancer (GH) Regulatory Elements for PPIF Gene

Promoters and enhancers for PPIF 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 PPIF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPIF gene promoter:
  • Arnt
  • ATF6
  • CREB
  • CUTL1
  • E2F
  • E2F-1
  • Lmo2
  • RORalpha1
  • Sp1

Genomic Locations for PPIF Gene

Genomic Locations for PPIF Gene
chr10:79,347,464-79,355,334
(GRCh38/hg38)
Size:
7,871 bases
Orientation:
Plus strand
chr10:81,107,220-81,115,093
(GRCh37/hg19)
Size:
7,874 bases
Orientation:
Plus strand

Genomic View for PPIF Gene

Genes around PPIF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PPIF Gene

Proteins for PPIF Gene

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

    Protein Symbol:
    P30405-PPIF_HUMAN
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase F, mitochondrial
    Protein Accession:
    P30405
    Secondary Accessions:
    • Q2YDB7
    • Q5W131

    Protein attributes for PPIF Gene

    Size:
    207 amino acids
    Molecular mass:
    22040 Da
    Quaternary structure:
    • Associates with the mitochondrial membrane ATP synthase F(1)F(0) ATP synthase; the association is increased by inorganic phosphate (Pi) and decreased by cyclosporin A (CsA). Interacts with ATP5F1B; ATP5PD and ATP5PO. Interacts with SLC25A3; the interaction is impaired by CsA. Interacts with BCL2; the interaction is impaired by CsA. Interacts with TP53; the association implicates preferentially tetrameric TP53, is induced by oxidative stress and is impaired by CsA. Interacts with C1QBP. Interacts with MCUR1 (PubMed:26976564). Component of the mitochondrial permeability transition pore complex (mPTPC), at least composed of SPG7, VDAC1 and PPIF (PubMed:26387735). Interacts with SPG7 (PubMed:26387735).

    Three dimensional structures from OCA and Proteopedia for PPIF Gene

    Alternative splice isoforms for PPIF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPIF Gene

Selected DME Specific Peptides for PPIF Gene

P30405:
  • VKKIESFGS
  • LSMANAG
  • TNGSQFF
  • GVLSMAN
  • TAENFRAL
  • TGEKGFGY
  • GDFTNHNGTGG
  • GSTFHRVI
  • GPNTNGSQ
  • DVVPKTA
  • GFGYKGS
  • PKTAENF
  • DENFTLKH
  • GGKSIYG
  • LDGKHVVFG
  • DVVKKIES
  • LCTGEKG

Post-translational modifications for PPIF Gene

Other Protein References for PPIF Gene

Domains & Families for PPIF Gene

Gene Families for PPIF Gene

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

Suggested Antigen Peptide Sequences for PPIF Gene

GenScript: Design optimal peptide antigens:
  • Rotamase F (PPIF_HUMAN)
  • Peptidyl-prolyl cis-trans isomerase (Q2YDB7_HUMAN)
  • Peptidyl-prolyl cis-trans isomerase (Q5JSI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P30405

UniProtKB/Swiss-Prot:

PPIF_HUMAN :
  • Belongs to the cyclophilin-type PPIase family.
Family:
  • Belongs to the cyclophilin-type PPIase family.
genes like me logo Genes that share domains with PPIF: view

Function for PPIF Gene

Molecular function for PPIF Gene

UniProtKB/Swiss-Prot Function:
PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (PubMed:20676357). Involved in regulation of the mitochondrial permeability transition pore (mPTP). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probability of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated. In cooperation with mitochondrial TP53 is involved in activating oxidative stress-induced necrosis. Involved in modulation of mitochondrial membrane F(1)F(0) ATP synthase activity and regulation of mitochondrial matrix adenine nucleotide levels. Has anti-apoptotic activity independently of mPTP and in cooperation with BCL2 inhibits cytochrome c-dependent apoptosis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA-COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by cyclosporin A (CsA) (PubMed:20676357). Is displaced by CsA from the mPTP leading to a lower open probability of the mPTP.

Enzyme Numbers (IUBMB) for PPIF Gene

Phenotypes From GWAS Catalog for PPIF Gene

Gene Ontology (GO) - Molecular Function for PPIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IEA,IDA 20676357
GO:0005515 protein binding IPI 22726440
GO:0016018 cyclosporin A binding IDA 20676357
GO:0016853 isomerase activity IEA --
GO:0042277 peptide binding IEA --
genes like me logo Genes that share ontologies with PPIF: view
genes like me logo Genes that share phenotypes with PPIF: view

Animal Models for PPIF Gene

MGI Knock Outs for PPIF:

Animal Model Products

  • Taconic Biosciences Mouse Models for PPIF

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPIF Gene

Localization for PPIF Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPIF Gene

Mitochondrion matrix.

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 PPIF gene
Compartment Confidence
mitochondrion 5
cytosol 2
extracellular 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0005753 colocalizes_with mitochondrial proton-transporting ATP synthase complex ISS --
GO:0005757 mitochondrial permeability transition pore complex IDA 26387735
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with PPIF: view

Pathways & Interactions for PPIF Gene

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

Pathways by source for PPIF Gene

1 Sino Biological pathway for PPIF Gene

Gene Ontology (GO) - Biological Process for PPIF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000413 protein peptidyl-prolyl isomerization IDA 20676357
GO:0002931 response to ischemia ISS --
GO:0006457 protein folding IEA --
GO:0006915 apoptotic process IEA --
GO:0006979 response to oxidative stress IEA --
genes like me logo Genes that share ontologies with PPIF: view

No data available for SIGNOR curated interactions for PPIF Gene

Drugs & Compounds for PPIF Gene

(4) Drugs for PPIF Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Proline Approved Nutra Target 37
Cyclosporin A Approved, Investigational, Vet_approved Pharma Antagonist, Inhibition, Inhibitor, Target, binder Immunosuppressive agent, Calcineurin inhibitor 0
7-AMINO-4-METHYL-CHROMEN-2-ONE Experimental Pharma Target 0
Triglyme Experimental Pharma Target 0
genes like me logo Genes that share compounds with PPIF: view

Transcripts for PPIF Gene

mRNA/cDNA for PPIF Gene

CRISPR Products

Clone Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5: - - - - -
SP6:

Relevant External Links for PPIF Gene

GeneLoc Exon Structure for
PPIF
ECgene alternative splicing isoforms for
PPIF

Expression for PPIF Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Adrenal Gland (x5.2).

Protein differential expression in normal tissues from HIPED for PPIF Gene

This gene is overexpressed in Monocytes (9.1) and Liver, secretome (6.4).

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



Protein tissue co-expression partners for PPIF Gene

NURSA nuclear receptor signaling pathways regulating expression of PPIF Gene:

PPIF

SOURCE GeneReport for Unigene cluster for PPIF Gene:

Hs.381072

Evidence on tissue expression from TISSUES for PPIF Gene

  • Nervous system(4.7)
  • Blood(4.6)
  • Lung(3.8)
  • Heart(3.4)
  • Liver(3.3)
  • Muscle(3.1)
  • Intestine(2.9)
  • Kidney(2.4)
  • Skin(2.2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with PPIF: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPIF Gene

Orthologs for PPIF Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPIF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPIF 33 32
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPIF 33 32
  • 90.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPIF 33 32
  • 88.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ppif 17 33 32
  • 87.86 (n)
rat
(Rattus norvegicus)
Mammalia Ppif 32
  • 87.86 (n)
oppossum
(Monodelphis domestica)
Mammalia PPIF 33
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPIF 33
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPIF 33 32
  • 72.64 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPIF 33
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppif 32
  • 68.1 (n)
MGC75715 32
zebrafish
(Danio rerio)
Actinopterygii ppifb 33 32
  • 71.4 (n)
OneToOne
Dr.26827 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8555 32
fruit fly
(Drosophila melanogaster)
Insecta CG7768 33 34
  • 74 (a)
OneToMany
Cyp1 33 34 32
  • 72.67 (n)
OneToMany
ninaA 34
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000462 32
  • 70.6 (n)
worm
(Caenorhabditis elegans)
Secernentea cyp-3 34
  • 68 (a)
cyp-7 34
  • 64 (a)
cyn-13 33
  • 34 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL177C 32
  • 67.51 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D16676g 32
  • 65.2 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPR1 35 33 32
  • 64.57 (n)
CPR3 33
  • 59 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons CYP5 32
  • 61.64 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7462 32
soybean
(Glycine max)
eudicotyledons Gma.5851 32
rice
(Oryza sativa)
Liliopsida Os06g0708500 32
  • 63.1 (n)
wheat
(Triticum aestivum)
Liliopsida Ta.1078 32
barley
(Hordeum vulgare)
Liliopsida Hv.3465 32
bread mold
(Neurospora crassa)
Ascomycetes NCU00726 32
  • 65.76 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ppi1 32
  • 65.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5180 33
  • 61 (a)
ManyToMany
Species where no ortholog for PPIF was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)

Evolution for PPIF Gene

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

Paralogs for PPIF Gene

(23) SIMAP similar genes for PPIF Gene using alignment to 4 proteins:

  • PPIF_HUMAN
  • H0Y548_HUMAN
  • Q2YDB7_HUMAN
  • R4GN99_HUMAN

Pseudogenes.org Pseudogenes for PPIF Gene

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

Variants for PPIF Gene

Sequence variations from dbSNP and Humsavar for PPIF Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000075639 -- 79,348,807(+) G/T intron_variant
rs1000269118 -- 79,355,250(+) T/A 3_prime_UTR_variant
rs1000576438 -- 79,355,553(+) G/A downstream_transcript_variant
rs1000613949 -- 79,353,900(+) C/T 3_prime_UTR_variant
rs1000623957 -- 79,353,535(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv1161981 CNV duplication 26073780
nsv819846 CNV loss 19587683

Variation tolerance for PPIF Gene

Residual Variation Intolerance Score: 84.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPIF Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PPIF Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPIF Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ischemia
  • acute coronary syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PPIF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PPIF

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 PPIF: view

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

Publications for PPIF Gene

  1. The cyclophilin multigene family of peptidyl-prolyl isomerases. Characterization of three separate human isoforms. (PMID: 1744118) Bergsma DJ … Kasyan K (The Journal of biological chemistry 1991) 2 3 4 56
  2. SPG7 Is an Essential and Conserved Component of the Mitochondrial Permeability Transition Pore. (PMID: 26387735) Shanmughapriya S … Madesh M (Molecular cell 2015) 3 4 56
  3. p53 opens the mitochondrial permeability transition pore to trigger necrosis. (PMID: 22726440) Vaseva AV … Moll UM (Cell 2012) 3 4 56
  4. 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
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56

Products for PPIF Gene

Sources for PPIF Gene