Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PPIE Gene

Aliases for PPIE Gene

  • Peptidylprolyl Isomerase E 2 3 5
  • Rotamase E 2 3 4
  • PPIase E 2 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase E 2 3
  • Cyclophilin-33 3 4
  • Cyclophilin E 2 4
  • CYP33 3 4
  • Peptidylprolyl Isomerase E (Cyclophilin E) 3
  • Peptidylprolyl Isomerase E, Isoform 1 2
  • Cyclophilin 33 2
  • EC 5.2.1.8 4
  • CYP-33 3

External Ids for PPIE Gene

Previous GeneCards Identifiers for PPIE Gene

  • GC01P040234
  • GC01P039208
  • GC01P039668
  • GC01P039618
  • GC01P039619
  • GC01P039873
  • GC01P039977
  • GC01P040157
  • GC01P038323

Summaries for PPIE Gene

Entrez Gene Summary for PPIE 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 contains a highly conserved cyclophilin (CYP) domain as well as an RNA-binding domain. It was shown to possess PPIase and protein folding activities, and it also exhibits RNA-binding activity. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 1, has been identified. [provided by RefSeq, Aug 2010]

GeneCards Summary for PPIE Gene

PPIE (Peptidylprolyl Isomerase E) is a Protein Coding gene. Among its related pathways are mRNA Splicing - Major Pathway and Innate Immune System. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is RANBP2.

UniProtKB/Swiss-Prot for PPIE Gene

  • Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346). Combines RNA-binding and PPIase activities (PubMed:8977107, PubMed:18258190, PubMed:20677832, PubMed:20460131). Binds mRNA and has a preference for single-stranded RNA molecules with poly-A and poly-U stretches, suggesting it binds to the poly(A)-region in the 3-UTR of mRNA molecules (PubMed:8977107, PubMed:18258190, PubMed:20460131). Catalyzes the cis-trans isomerization of proline imidic peptide bonds in proteins (PubMed:8977107, PubMed:18258190, PubMed:20677832, PubMed:20541251). Inhibits KMT2A activity; this requires proline isomerase activity (PubMed:20677832, PubMed:20541251, PubMed:20460131).

Gene Wiki entry for PPIE Gene

Additional gene information for PPIE Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPIE Gene

Genomics for PPIE Gene

GeneHancer (GH) Regulatory Elements for PPIE Gene

Promoters and enhancers for PPIE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J039738 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 734.9 +46.8 46830 1.8 ATF1 SIN3A ZNF2 YY1 ETS1 POLR2B GLIS2 E2F8 ATF7 RUNX3 PPIE BMP8B OXCT2 TRIT1 ENSG00000202222 PIR58872 GC01M039730 RNU7-121P
GH01J039690 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 667.2 -0.4 -430 1.8 PKNOX1 ZSCAN4 INSM2 KLF17 SIN3A BMI1 ZNF2 ZNF335 FOS SP3 HPCAL4 PPIE EXO5 MYCBP RLF TRIT1
GH01J040256 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 151.8 +565.6 565631 3.2 ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ENSG00000259943 ZMPSTE24 PPIE EXO5 PPIEL TRIT1 RLF NFYC-AS1 NFYC LOC105378672
GH01J039025 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 59.2 -665.6 -665616 2.4 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 SLC30A9 NDUFS5 PPIE MYCBP TRIT1 LOC101929516 AKIRIN1 SNORA55 PPIEL GJA9 RRAGC
GH01J040372 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 43.6 +683.7 683671 5.9 FEZF1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 NBN SMAP2 PPIEL EXO5 PPIE TRIT1 ENSG00000259943 NFYC-AS1 RLF LOC105378674 ENSG00000229528
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPIE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPIE gene promoter:
  • AREB6
  • HEN1
  • POU2F1
  • POU2F1a
  • HSF1short
  • HSF1 (long)
  • SRY
  • Sox9
  • Nkx5-1

Genomic Locations for PPIE Gene

Genomic Locations for PPIE Gene
chr1:39,692,182-39,763,914
(GRCh38/hg38)
Size:
71,733 bases
Orientation:
Plus strand
chr1:40,157,854-40,229,586
(GRCh37/hg19)
Size:
71,733 bases
Orientation:
Plus strand

Genomic View for PPIE Gene

Genes around PPIE on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PPIE Gene

Proteins for PPIE Gene

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

    Protein Symbol:
    Q9UNP9-PPIE_HUMAN
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase E
    Protein Accession:
    Q9UNP9
    Secondary Accessions:
    • B2R971
    • O43634
    • O43635
    • Q32Q72
    • Q3S611
    • Q5TGA0
    • Q5TGA2
    • Q5TGA3
    • Q9UIZ5

    Protein attributes for PPIE Gene

    Size:
    301 amino acids
    Molecular mass:
    33431 Da
    Quaternary structure:
    • Identified in the spliceosome C complex (PubMed:11991638, PubMed:28076346). Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE (PubMed:17981804). Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex (PubMed:25599396). The IB complex does not contain PRPF19 (PubMed:25599396). Interacts (via RNA-binding domain) with KMT2A (via the third PHD-type zinc-finger) (PubMed:20677832, PubMed:20541251, PubMed:20460131).

    Three dimensional structures from OCA and Proteopedia for PPIE Gene

    Alternative splice isoforms for PPIE Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPIE Gene

Post-translational modifications for PPIE Gene

  • Ubiquitination at Lys218
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PPIE Gene

Domains & Families for PPIE Gene

Graphical View of Domain Structure for InterPro Entry

Q9UNP9

UniProtKB/Swiss-Prot:

PPIE_HUMAN :
  • The RRM domain mediates both interaction with RNA and with KMT2A (via the third PHD-type zinc-finger), but has much higher affinity for the KMT2A PHD-type zinc-finger.
  • Belongs to the cyclophilin-type PPIase family. PPIase E subfamily.
Domain:
  • The RRM domain mediates both interaction with RNA and with KMT2A (via the third PHD-type zinc-finger), but has much higher affinity for the KMT2A PHD-type zinc-finger.
Family:
  • Belongs to the cyclophilin-type PPIase family. PPIase E subfamily.
genes like me logo Genes that share domains with PPIE: view

Function for PPIE Gene

Molecular function for PPIE Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28076346). Combines RNA-binding and PPIase activities (PubMed:8977107, PubMed:18258190, PubMed:20677832, PubMed:20460131). Binds mRNA and has a preference for single-stranded RNA molecules with poly-A and poly-U stretches, suggesting it binds to the poly(A)-region in the 3-UTR of mRNA molecules (PubMed:8977107, PubMed:18258190, PubMed:20460131). Catalyzes the cis-trans isomerization of proline imidic peptide bonds in proteins (PubMed:8977107, PubMed:18258190, PubMed:20677832, PubMed:20541251). Inhibits KMT2A activity; this requires proline isomerase activity (PubMed:20677832, PubMed:20541251, PubMed:20460131).
UniProtKB/Swiss-Prot CatalyticActivity:
Peptidylproline (omega=180) = peptidylproline (omega=0).
UniProtKB/Swiss-Prot EnzymeRegulation:
Enzyme activity is inhibited by cyclosporin A.
GENATLAS Biochemistry:
cyclophilin E,FKB (FK506 binding protein)-type peptidyl-prolyl cis-trans-isomerase,highly expressed in muscle and brain,coamplified with MYCL1 in small cell lung cancer lines

Enzyme Numbers (IUBMB) for PPIE Gene

Phenotypes From GWAS Catalog for PPIE Gene

Gene Ontology (GO) - Molecular Function for PPIE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding TAS 11313484
GO:0003729 mRNA binding IDA 18258190
GO:0003755 peptidyl-prolyl cis-trans isomerase activity TAS 11313484
GO:0005515 protein binding IPI 11313484
genes like me logo Genes that share ontologies with PPIE: view
genes like me logo Genes that share phenotypes with PPIE: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PPIE

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPIE

Clone Products

  • Addgene plasmids for PPIE

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPIE Gene

Localization for PPIE Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPIE Gene

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 PPIE gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PPIE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IDA,IEA 11313484
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PPIE: view

Pathways & Interactions for PPIE Gene

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

Pathways by source for PPIE Gene

Gene Ontology (GO) - Biological Process for PPIE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006355 regulation of transcription, DNA-templated IMP 11313484
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with PPIE: view

No data available for SIGNOR curated interactions for PPIE Gene

Drugs & Compounds for PPIE Gene

No Compound Related Data Available

Transcripts for PPIE Gene

Unigene Clusters for PPIE Gene

Peptidylprolyl isomerase E (cyclophilin E):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPIE

Clone Products

  • Addgene plasmids for PPIE

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

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a ·
SP1: - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - -
SP8: - - - - - - - - - - - -
SP9: - - - -
SP10: - - - -
SP11: - - - -
SP12: - - -
SP13:
SP14: - - -
SP15: - - -

ExUns: 11b ^ 12a · 12b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for PPIE Gene

GeneLoc Exon Structure for
PPIE
ECgene alternative splicing isoforms for
PPIE

Expression for PPIE Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPIE Gene

This gene is overexpressed in Liver (19.9), Heart (10.1), Peripheral blood mononuclear cells (8.7), and Spleen (6.7).

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



Protein tissue co-expression partners for PPIE Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPIE Gene:

PPIE

SOURCE GeneReport for Unigene cluster for PPIE Gene:

Hs.524690

mRNA Expression by UniProt/SwissProt for PPIE Gene:

Q9UNP9-PPIE_HUMAN
Tissue specificity: Found in all the examined tissues including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for PPIE Gene

  • Lung(4.6)
  • Nervous system(4.6)
  • Intestine(4.4)
  • Bone marrow(4.2)
  • Liver(4.2)
  • Pancreas(2.4)
  • Skin(2)
genes like me logo Genes that share expression patterns with PPIE: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPIE Gene

Orthologs for PPIE Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPIE Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPIE 34 33
  • 99.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPIE 34 33
  • 92.47 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPIE 34 33
  • 91.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ppie 16 34 33
  • 90.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPIE 34
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPIE 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPIE 34 33
  • 81.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPIE 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppie 33
  • 77.74 (n)
Str.10680 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.2732 33
zebrafish
(Danio rerio)
Actinopterygii ppie 34 33
  • 76.3 (n)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Cyp1 35
  • 71 (a)
CG7768 35
  • 69 (a)
cyp33 34 35 33
  • 64.64 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009810 33
  • 65.11 (n)
worm
(Caenorhabditis elegans)
Secernentea cyp-3 35
  • 65 (a)
cyp-7 35
  • 64 (a)
cyn-7 34
  • 60 (a)
ManyToMany
cyn-2 34
  • 60 (a)
ManyToMany
cyp-13 35
  • 60 (a)
cyn-3 34
  • 59 (a)
ManyToMany
cyn-13 33
  • 58.95 (n)
cyn-1 34
  • 56 (a)
ManyToMany
cyp-8 35
  • 52 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPR1 34
  • 57 (a)
ManyToMany
CPR3 34
  • 51 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G55920 33
  • 62.05 (n)
rice
(Oryza sativa)
Liliopsida Os.5492 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2828 34
  • 61 (a)
OneToOne
Cin.5879 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5879 33
Species where no ortholog for PPIE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPIE Gene

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

Paralogs for PPIE Gene

(25) SIMAP similar genes for PPIE Gene using alignment to 8 proteins:

  • PPIE_HUMAN
  • E9PEQ6_HUMAN
  • E9PIB0_HUMAN
  • E9PK21_HUMAN
  • E9PKY5_HUMAN
  • E9PMH0_HUMAN
  • H0YCV4_HUMAN
  • H0YE31_HUMAN

Pseudogenes.org Pseudogenes for PPIE Gene

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

Variants for PPIE Gene

Sequence variations from dbSNP and Humsavar for PPIE Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000293842 -- 39,737,122(+) A/C upstream_transcript_variant
rs1000304217 -- 39,737,550(+) A/T upstream_transcript_variant
rs1000306617 -- 39,743,582(+) G/A/C intron_variant
rs1000653032 -- 39,754,328(+) G/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1000667020 -- 39,736,942(+) A/G upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
dgv152n100 CNV gain 25217958
dgv153n100 CNV gain 25217958
dgv15n27 CNV gain 19166990
esv2758933 CNV loss 17122850
nsv1116447 OTHER inversion 24896259
nsv546062 CNV gain 21841781
nsv546063 CNV gain 21841781
nsv7177 OTHER inversion 18451855
nsv945894 CNV duplication 23825009
nsv950654 CNV deletion 24416366

Variation tolerance for PPIE Gene

Residual Variation Intolerance Score: 55.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPIE Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PPIE Gene

Additional Disease Information for PPIE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PPIE Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPIE Gene

Publications for PPIE Gene

  1. Co-amplification of a novel cyclophilin-like gene (PPIE) with L-myc in small cell lung cancer cell lines. (PMID: 9747881) Kim JO … Kelley MJ (Oncogene 1998) 2 3 4 22 58
  2. Cryo-EM structure of a human spliceosome activated for step 2 of splicing. (PMID: 28076346) Bertram K … Lührmann R (Nature 2017) 3 4 58
  3. The RNA helicase Aquarius exhibits structural adaptations mediating its recruitment to spliceosomes. (PMID: 25599396) De I … Pena V (Nature structural & molecular biology 2015) 3 4 58
  4. The PHD3 domain of MLL acts as a CYP33-regulated switch between MLL-mediated activation and repression . (PMID: 20677832) Park S … Bushweller JH (Biochemistry 2010) 3 4 58
  5. Pro isomerization in MLL1 PHD3-bromo cassette connects H3K4me readout to CyP33 and HDAC-mediated repression. (PMID: 20541251) Wang Z … Patel DJ (Cell 2010) 3 4 58

Products for PPIE Gene

Sources for PPIE Gene

Content
Loading form....