PPID peptidylprolyl isomerase D [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPIDprovided by HGNC
Official Full Name: peptidylprolyl isomerase Dprovided by HGNC
Primary source: HGNC:HGNC:9257
See related: Ensembl:ENSG00000171497 MIM:601753; AllianceGenome:HGNC:9257
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: CYPD; CYP-40
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 has been shown to possess PPIase activity and, similar to other family members, can bind to the immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]
Annotation information: Note: This gene encodes a 370 aa protein that is found in the cytoplasm. In some databases, it has been labeled incorrectly as 'cyclophilin D'. This same name has also been applied to a different protein, found in the mitochondrion, which is represented by Entrez GeneID 10105, PPIF. [13 Feb 2013]
Expression: Ubiquitous expression in testis (RPKM 15.6), duodenum (RPKM 13.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q32.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (158709127..158723396, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (162059876..162074164, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (159630279..159644548, complement)

Chromosome 4 - NC_000004.12 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?

Elevations in the Mitochondrial Matrix Protein Cyclophilin D Correlate With Reduced Parvalbumin Expression in the Prefrontal Cortex of Patients With Schizophrenia.
Title: Elevations in the Mitochondrial Matrix Protein Cyclophilin D Correlate With Reduced Parvalbumin Expression in the Prefrontal Cortex of Patients With Schizophrenia.
CypD induced ROS output promotes intracranial aneurysm formation and rupture by 8-OHdG/NLRP3/MMP9 pathway.
Title: CypD induced ROS output promotes intracranial aneurysm formation and rupture by 8-OHdG/NLRP3/MMP9 pathway.
Cyclophilin D in Mitochondrial Dysfunction: A Key Player in Neurodegeneration?
Title: Cyclophilin D in Mitochondrial Dysfunction: A Key Player in Neurodegeneration?
Cyclophilin D-mediated Mitochondrial Permeability Transition Regulates Mitochondrial Function.
Title: Cyclophilin D-mediated Mitochondrial Permeability Transition Regulates Mitochondrial Function.
These findings provided novel insights into the role of a CypD-dependent mitochondrial pathway.
Title: Blockade of Cyclophilin D Attenuates Oxidative Stress-Induced Cell Death in Human Dental Pulp Cells.
Data show that cyclophilin 40 (CyP40) interacts with and dissolves amyloids forming proteins tau and alpha-synuclein aggregates.
Title: Human cyclophilin 40 unravels neurotoxic amyloids.
The thermodynamics of binding of Cyp-40 to Hsp90 shows remarkable temperature sensitivity in the physiological temperature range.
Title: Cyclophilin40 isomerase activity is regulated by a temperature-dependent allosteric interaction with Hsp90.
cyclophilin-D protein could increase oxidative stress and cause endothelial cell injury and apoptosis. cyclophilin-D protein is the key factor in reactive oxygen species-induced mitochondrial damage, leading to apoptosis of endothelial cells.
Title: Influence of cyclophilin D protein expression level on endothelial cell oxidative damage resistance.
Cyp40 binds to C2I in vitro and in intact cells, it also interacts with the enzyme components of iota toxin and CDT, suggesting a common principle for this toxin family.
Title: Cyclophilin-facilitated membrane translocation as pharmacological target to prevent intoxication of mammalian cells by binary clostridial actin ADP-ribosylated toxins.
The Photorhabdus toxins TccC3 and TccC5 interacted with Hsp90, FKBP51, Cyp40 and CypA, suggesting a role of these host cell factors in translocation and/or refolding of the ADP-ribosyltransferases.
Title: The chaperone Hsp90 and PPIases of the cyclophilin and FKBP families facilitate membrane translocation of Photorhabdus luminescens ADP-ribosyltransferases.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
A genome-wide perspective of genetic variation in human metabolism. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Human metabolic individuality in biomedical and pharmaceutical research. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-L11667 (e-PCR)
- UniSTS:47360

STS-W94905 (e-PCR)
- UniSTS:11544

D8S2279 (e-PCR)
- UniSTS:473907

BARC0073 (e-PCR)
- UniSTS:260479

D4S2997 (e-PCR)
- UniSTS:12418

G44334 (e-PCR)
- UniSTS:95121

SHGC-67406 (e-PCR)
- UniSTS:43466

D11S3316 (e-PCR)
- UniSTS:152558

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables Hsp70 protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables Hsp90 protein binding	IDA Inferred from Direct Assay more info	PubMed
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 cyclosporin A binding	TAS Traceable Author Statement more info	PubMed
enables heat shock protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables nuclear estrogen receptor binding	ISS Inferred from Sequence or Structural Similarity 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
enables transcription factor binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cellular response to UV-A	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chaperone-mediated protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid droplet organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of viral genome replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in viral release from host cell	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase D

Names: 40 kDa peptidyl-prolyl cis-trans isomerase D; PPIase D; cyclophilin 40; cyclophilin D; cyclophilin-related protein; rotamase D; testicular tissue protein Li 147

NP_005029.1

EC 5.2.1.8

XP_047271800.1

EC 5.2.1.8

XP_054206257.1

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_005038.3 → NP_005029.1 peptidyl-prolyl cis-trans isomerase D

See identical proteins and their annotated locations for NP_005029.1

Status: REVIEWED

Source sequence(s)

BC030707, BG699755, BU726810, L11667

Consensus CDS

CCDS3801.1

UniProtKB/Swiss-Prot

B2R9V2, Q08752

UniProtKB/TrEMBL

E5KN55, E5KN59, Q6FGM6

Related

ENSP00000303754.3, ENST00000307720.4

Conserved Domains (3) summary

cd01926
Location:16 → 182

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 ...

sd00006
Location:224 → 267

TPR; TPR repeat [structural motif]

cl26005
Location:192 → 362

PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional