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PPIF peptidylprolyl isomerase F [ Homo sapiens (human) ]

Gene ID: 10105, updated on 6-Jan-2019

Summary

Official Symbol
PPIFprovided by HGNC
Official Full Name
peptidylprolyl isomerase Fprovided by HGNC
Primary source
HGNC:HGNC:9259
See related
Ensembl:ENSG00000108179 MIM:604486
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CYP3; CypD; CyP-M; Cyp-D
Summary
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]
Annotation information
Note: This gene encodes a 178 aa mature peptide that is found in the mitochondrion. It has been labeled 'cyclophilin D'. This same name has also been applied to a different cytoplasmic protein of 370 aa, which is represented by Entrez GeneID 5481, PPID. [05 May 2010]
Expression
Ubiquitous expression in adrenal (RPKM 72.6), bone marrow (RPKM 44.8) and 25 other tissues See more
Orthologs

Genomic context

See PPIF in Genome Data Viewer
Location:
10q22.3
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (79347464..79355334)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (81107220..81115090)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene zinc finger MIZ-type containing 1 Neighboring gene VISTA enhancer hs1767 Neighboring gene uncharacterized LOC107984247 Neighboring gene zinc finger CCHC-type containing 24 Neighboring gene uncharacterized LOC105378383

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
capsid gag The interaction of HIV-1 CA with human cellular peptidylprolyl isomerase F protein (PPIF, cyclophilin F) is identified by yeast two-hybrid screen PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Calcium signaling pathway, organism-specific biosystem (from KEGG)
    Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Calcium signaling pathway, conserved biosystem (from KEGG)
    Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
  • Huntington's disease, organism-specific biosystem (from KEGG)
    Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Huntington's disease, conserved biosystem (from KEGG)
    Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
  • Parkinson's disease, organism-specific biosystem (from KEGG)
    Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
  • Toxoplasmosis, organism-specific biosystem (from KEGG)
    Toxoplasmosis, organism-specific biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
  • Toxoplasmosis, conserved biosystem (from KEGG)
    Toxoplasmosis, conserved biosystemToxoplasma gondii is an obligate intracellular parasite that is prevalent worldwide. The tachyzoite form acquired by oral ingestion downmodulates proinflammatory signaling pathways via various mechan...
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90798, MGC117207

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclosporin A binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cyclosporin A binding IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-prolyl cis-trans isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-prolyl cis-trans isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
apoptotic mitochondrial changes IEA
Inferred from Electronic Annotation
more info
 
cellular response to arsenic-containing substance ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to hydrogen peroxide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to hydrogen peroxide IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial outer membrane permeabilization involved in programmed cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
necroptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ATPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of oxidative phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of oxidative phosphorylation uncoupler activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of release of cytochrome c from mitochondria IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of release of cytochrome c from mitochondria ISS
Inferred from Sequence or Structural Similarity
more info
 
protein peptidyl-prolyl isomerization IDA
Inferred from Direct Assay
more info
PubMed 
protein refolding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of mitochondrial membrane permeability IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of mitochondrial membrane permeability IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitochondrial membrane permeability ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of mitochondrial membrane permeability involved in programmed necrotic cell death IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of mitochondrial membrane permeability involved in programmed necrotic cell death IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of necrotic cell death IEA
Inferred from Electronic Annotation
more info
 
regulation of proton-transporting ATPase activity, rotational mechanism ISS
Inferred from Sequence or Structural Similarity
more info
 
response to ischemia ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
mitochondrial permeability transition pore complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with mitochondrial proton-transporting ATP synthase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
peptidyl-prolyl cis-trans isomerase F, mitochondrial
Names
PPIase F
cyclophilin 3
cyclophilin D
cyclophilin F
mitochondrial cyclophilin
peptidyl-prolyl cis-trans isomerase, mitochondrial
rotamase F
NP_005720.1
XP_005269436.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005729.4NP_005720.1  peptidyl-prolyl cis-trans isomerase F, mitochondrial precursor

    See identical proteins and their annotated locations for NP_005720.1

    Status: REVIEWED

    Source sequence(s)
    BC013204, BE791220
    Consensus CDS
    CCDS7358.1
    UniProtKB/Swiss-Prot
    P30405
    UniProtKB/TrEMBL
    A0A024QZS4
    Related
    ENSP00000225174.3, ENST00000225174.7
    Conserved Domains (1) summary
    cd01926
    Location:46204
    cyclophilin_ABH_like; cyclophilin_ABH_like: Cyclophilin A, B and H-like cyclophilin-type peptidylprolyl cis- trans isomerase (PPIase) domain. This family represents the archetypal cystolic cyclophilin similar to human cyclophilins A, B and H. PPIase is an enzyme which ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    79347464..79355334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269379.3XP_005269436.1  peptidyl-prolyl cis-trans isomerase F, mitochondrial isoform X1

    Related
    ENSP00000396388.1, ENST00000448165.1
    Conserved Domains (1) summary
    cl00197
    Location:46163
    cyclophilin; cyclophilin: cyclophilin-type peptidylprolyl cis- trans isomerases. This family contains eukaryotic, bacterial and archeal proteins which exhibit a peptidylprolyl cis- trans isomerases activity (PPIase, Rotamase) and in addition bind the ...
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