PPIF peptidylprolyl isomerase F [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:9259
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: mouse all
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Genomic context

Location:: 10q22.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (79347469..79355334)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (80216813..80224678)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (81107225..81115090)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dissecting prostate Cancer: Single-Cell insight into Macrophage Diversity, molecular Prognosticators, and the role of Peptidylprolyl Isomerase F.
Title: Dissecting prostate Cancer: Single-Cell insight into Macrophage Diversity, molecular Prognosticators, and the role of Peptidylprolyl Isomerase F.
Mitochondrial CypD Acetylation Promotes Endothelial Dysfunction and Hypertension.
Title: Mitochondrial CypD Acetylation Promotes Endothelial Dysfunction and Hypertension.
Role of the mitochondrial protein cyclophilin D in skin wound healing and collagen secretion.
Title: Role of the mitochondrial protein cyclophilin D in skin wound healing and collagen secretion.
Cinnamtannin B-1 Inhibits the Progression of Osteosarcoma by Regulating the miR-1281/PPIF Axis.
Title: Cinnamtannin B-1 Inhibits the Progression of Osteosarcoma by Regulating the miR-1281/PPIF Axis.
Formation of High-Conductive C Subunit Channels upon Interaction with Cyclophilin D.
Title: Formation of High-Conductive C Subunit Channels upon Interaction with Cyclophilin D.
Overexpression of TICRR and PPIF confer poor prognosis in endometrial cancer identified by gene co-expression network analysis.
Title: Overexpression of TICRR and PPIF confer poor prognosis in endometrial cancer identified by gene co-expression network analysis.
microRNA-1203 targets and silences cyclophilin D to protect human endometrial cells from oxygen and glucose deprivation-re-oxygenation.
Title: microRNA-1203 targets and silences cyclophilin D to protect human endometrial cells from oxygen and glucose deprivation-re-oxygenation.
RNase T1 Refolding Assay for Determining Mitochondrial Cyclophilin D Activity: A Novel In Vitro Method Applicable in Drug Research and Discovery.
Title: RNase T1 Refolding Assay for Determining Mitochondrial Cyclophilin D Activity: A Novel In Vitro Method Applicable in Drug Research and Discovery.
Targeting cyclophilin-D by miR-1281 protects human macrophages from Mycobacterium tuberculosis-induced programmed necrosis and apoptosis.
Title: Targeting cyclophilin-D by miR-1281 protects human macrophages from Mycobacterium tuberculosis-induced programmed necrosis and apoptosis.
the important yet enigmatic nature of CyPD (PPIF) somehow makes it a master regulator, yet a troublemaker, for mitochondrial function.
Title: Cyclophilin D, Somehow a Master Regulator of Mitochondrial Function.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-82268 (e-PCR)
- UniSTS:104215

SHGC-156301 (e-PCR)
- UniSTS:182329

D10S1558 (e-PCR)
- UniSTS:24393

RH119664 (e-PCR)
- UniSTS:133033

D10S2355 (e-PCR)
- UniSTS:71127

G20689 (e-PCR)
- UniSTS:27376

A006B47 (e-PCR)
- UniSTS:27377

RH102938 (e-PCR)
- UniSTS:97272

WI-20925 (e-PCR)
- UniSTS:69373

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II CTD heptapeptide repeat P3 isomerase activity	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II CTD heptapeptide repeat P6 isomerase activity	IEA Inferred from Electronic Annotation more info
enables cyclosporin A binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide binding	IEA Inferred from Electronic Annotation more info
enables peptidyl-prolyl cis-trans isomerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidyl-prolyl cis-trans isomerase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic mitochondrial changes	IEA Inferred from Electronic Annotation more info
involved_in cellular response to arsenic-containing substance	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hydrogen peroxide	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to hydrogen peroxide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial depolarization	IEA Inferred from Electronic Annotation more info
involved_in mitochondrial outer membrane permeabilization involved in programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in necroptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ATP-dependent activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of intrinsic apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of oxidative phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of oxidative phosphorylation uncoupler activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of release of cytochrome c from mitochondria	IDA Inferred from Direct Assay more info	PubMed
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitochondrial membrane permeability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial membrane permeability	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitochondrial membrane permeability involved in programmed necrotic cell death	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of mitochondrial membrane permeability involved in programmed necrotic cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of proton-transporting ATPase activity, rotational mechanism	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle fiber differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	TAS Traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
part_of mitochondrial permeability transition pore complex	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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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

EC 5.2.1.8

XP_005269436.1

EC 5.2.1.8

XP_054220447.1

EC 5.2.1.8

NCBI Reference Sequences (RefSeq)

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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)

NM_005729.4 → NP_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, Q2YDB7, Q5W131

UniProtKB/TrEMBL

B2R6X6

Related

ENSP00000225174.3, ENST00000225174.8

Conserved Domains (1) summary

cd01926
Location:46 → 204

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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

79347469..79355334

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

H0Y548

Related

ENSP00000396388.1, ENST00000448165.1

Conserved Domains (1) summary

cl00197
Location:46 → 163

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 ...