PPIC peptidylprolyl isomerase C [Homo sapiens (human)] - Gene

Summary

Official Symbol: PPICprovided by HGNC
Official Full Name: peptidylprolyl isomerase Cprovided by HGNC
Primary source: HGNC:HGNC:9256
See related: Ensembl:ENSG00000168938 MIM:123842; AllianceGenome:HGNC:9256
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: CYPC
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. Similar to other PPIases, this protein can bind immunosuppressant cyclosporin A. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 32.1), placenta (RPKM 29.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q23.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (123023250..123036725, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (123539800..123553272, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (122358945..122372420, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cyclophilin C as a Novel Diagnostic and Prognostic Biomarker of Coronary Artery Diseases. A Systematic Review and Meta-Analysis.
Title: Cyclophilin C as a Novel Diagnostic and Prognostic Biomarker of Coronary Artery Diseases. A Systematic Review and Meta-Analysis.
Independent validation with glioma patients tissue (n = 70) and normal brain tissue (n = 19) found PPIC, EMP3 and CHI3L1 were up-regulated in glioma tissue. Survival value validation showed that the three genes correlated with patient survival by Kaplan-Meir analysis, including grades, age and therapy.
Title: PPIC, EMP3 and CHI3L1 Are Novel Prognostic Markers for High Grade Glioma.
Cyclophilin C participates in cytomegalovirus US2 protein-mediated degradation of major histocompatibility complex class I molecules.
Title: Cyclophilin C Participates in the US2-Mediated Degradation of Major Histocompatibility Complex Class I Molecules.
These findings establish cyclophilin C as an ER cyclophilin, demonstrate the novel involvement of cyclophilins B and C in ER redox homeostasis
Title: Depletion of cyclophilins B and C leads to dysregulation of endoplasmic reticulum redox homeostasis.

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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
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. 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

WI-16818 (e-PCR)
- UniSTS:12847

PPIC (e-PCR)
- UniSTS:504919

PPIC_2382 (e-PCR)
- UniSTS:280920

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 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 protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	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 extracellular exosome	HDA more info	PubMed
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: peptidyl-prolyl cis-trans isomerase C

Names: PPIase C; cyclophilin C; parvulin; rotamase C

NP_000934.1

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_000943.5 → NP_000934.1 peptidyl-prolyl cis-trans isomerase C precursor

See identical proteins and their annotated locations for NP_000934.1

Status: REVIEWED

Source sequence(s)

AC022116, BG721394, BU075157, BX472017, CB963241

Consensus CDS

CCDS4133.1

UniProtKB/Swiss-Prot

A4LBB5, P45877

UniProtKB/TrEMBL

A8K2Q6

Related

ENSP00000303057.4, ENST00000306442.5

Conserved Domains (1) summary

cl00197
Location:39 → 197

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 ...