This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might ca... See more...

Aliases for PPIL1 Gene

Aliases for PPIL1 Gene

  • Peptidylprolyl Isomerase Like 1 2 3 5
  • CYPL1 2 3 4
  • Peptidylprolyl Isomerase (Cyclophilin)-Like 1 2 3
  • Peptidyl-Prolyl Cis-Trans Isomerase-Like 1 3 4
  • Cyclophilin Like 1 2 3
  • Rotamase PPIL1 3 4
  • EC 5.2.1.8 4 51
  • PPIase 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase 3
  • Cyclophilin-Related Gene 1 3
  • CGI-124 3
  • HCyPX 3
  • PPIL1 5

External Ids for PPIL1 Gene

Previous GeneCards Identifiers for PPIL1 Gene

  • GC06M036824
  • GC06M036869
  • GC06M036930
  • GC06M036540

Summaries for PPIL1 Gene

Entrez Gene Summary for PPIL1 Gene

  • This gene is a member of the cyclophilin family of peptidylprolyl isomerases (PPIases). The cyclophilins are a highly conserved, ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. Based on similarity to other PPIases, this protein could accelerate the folding of proteins and might catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPIL1 Gene

PPIL1 (Peptidylprolyl Isomerase Like 1) is a Protein Coding gene. Among its related pathways are Gene Expression and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include peptidyl-prolyl cis-trans isomerase activity. An important paralog of this gene is PPWD1.

UniProtKB/Swiss-Prot Summary for PPIL1 Gene

  • Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (PubMed:16595688).

Gene Wiki entry for PPIL1 Gene

Additional gene information for PPIL1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPIL1 Gene

Genomics for PPIL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPIL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPIL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPIL1

Top Transcription factor binding sites by QIAGEN in the PPIL1 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Ets-1
  • Ik-3
  • NCX
  • Pax-3
  • TBP
  • TFIID

Genomic Locations for PPIL1 Gene

Genomic Locations for PPIL1 Gene
chr6:36,854,827-36,874,803
(GRCh38/hg38)
Size:
19,977 bases
Orientation:
Minus strand
chr6:36,822,603-36,842,800
(GRCh37/hg19)
Size:
20,198 bases
Orientation:
Minus strand

Genomic View for PPIL1 Gene

Genes around PPIL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPIL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPIL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPIL1 Gene

Proteins for PPIL1 Gene

  • Protein details for PPIL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y3C6-PPIL1_HUMAN
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase-like 1
    Protein Accession:
    Q9Y3C6
    Secondary Accessions:
    • O15001
    • Q5TDC9

    Protein attributes for PPIL1 Gene

    Size:
    166 amino acids
    Molecular mass:
    18237 Da
    Quaternary structure:
    • Identified in the spliceosome C complex (PubMed:11991638, PubMed:28502770, PubMed:28076346). Interacts with SNW1 (PubMed:16595688, PubMed:20368803).

    Three dimensional structures from OCA and Proteopedia for PPIL1 Gene

neXtProt entry for PPIL1 Gene

Selected DME Specific Peptides for PPIL1 Gene

Q9Y3C6:
  • GAGILAMAN
  • FMIQGGD
  • KHTIFGRV
  • TNGSQFF
  • GDPTGTG
  • HAPKTCKNFA

Post-translational modifications for PPIL1 Gene

  • Ubiquitination at Lys58 and Lys80
  • Modification sites at PhosphoSitePlus

Other Protein References for PPIL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PPIL1 Gene

Protein Domains for PPIL1 Gene

InterPro:
Blocks:
  • Peptidyl-prolyl cis-trans isomerase, cyclophilin type
ProtoNet:

Suggested Antigen Peptide Sequences for PPIL1 Gene

GenScript: Design optimal peptide antigens:
  • Rotamase PPIL1 (PPIL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y3C6

UniProtKB/Swiss-Prot:

PPIL1_HUMAN :
  • Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily.
Family:
  • Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily.
genes like me logo Genes that share domains with PPIL1: view

Function for PPIL1 Gene

Molecular function for PPIL1 Gene

UniProtKB/Swiss-Prot Function:
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (PubMed:16595688).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA-COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Evidence={ECO:0000269|PubMed:16595688};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=230 uM for N-succinyl-Ala-Ala-Pro-Phe-p-nitroanilide {ECO:0000269|PubMed:16595688};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by Cyclosporin A.
GENATLAS Biochemistry:
peptidylprolyl isomerase (cyclophilin)-like 1,cellular target of cyclosporin A

Enzyme Numbers (IUBMB) for PPIL1 Gene

Phenotypes From GWAS Catalog for PPIL1 Gene

Gene Ontology (GO) - Molecular Function for PPIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IBA,IDA 16595688
GO:0005515 protein binding IPI 16595688
GO:0016018 cyclosporin A binding IDA 20676357
GO:0016853 isomerase activity IEA --
GO:0097718 disordered domain specific binding IPI 20007319
genes like me logo Genes that share ontologies with PPIL1: view
genes like me logo Genes that share phenotypes with PPIL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PPIL1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPIL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPIL1 Gene

Localization for PPIL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPIL1 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 PPIL1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 28076346
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0071007 U2-type catalytic step 2 spliceosome IDA 28076346
GO:0071013 catalytic step 2 spliceosome IDA 11991638
genes like me logo Genes that share ontologies with PPIL1: view

Pathways & Interactions for PPIL1 Gene

genes like me logo Genes that share pathways with PPIL1: view

Pathways by source for PPIL1 Gene

Gene Ontology (GO) - Biological Process for PPIL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0000413 protein peptidyl-prolyl isomerization IBA,IDA 16595688
GO:0006397 mRNA processing IEA --
GO:0006457 protein folding IEA --
GO:0008380 RNA splicing IEA --
genes like me logo Genes that share ontologies with PPIL1: view

No data available for SIGNOR curated interactions for PPIL1 Gene

Drugs & Compounds for PPIL1 Gene

No Compound Related Data Available

Transcripts for PPIL1 Gene

mRNA/cDNA for PPIL1 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPIL1

Alternative Splicing Database (ASD) splice patterns (SP) for PPIL1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: -
SP2: - -
SP3: -

Relevant External Links for PPIL1 Gene

GeneLoc Exon Structure for
PPIL1

Expression for PPIL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPIL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPIL1 Gene



Protein tissue co-expression partners for PPIL1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPIL1

SOURCE GeneReport for Unigene cluster for PPIL1 Gene:

Hs.27693

mRNA Expression by UniProt/SwissProt for PPIL1 Gene:

Q9Y3C6-PPIL1_HUMAN
Tissue specificity: Ubiquitous, with the most abundant expression in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for PPIL1 Gene

  • Nervous system(4.8)
  • Skin(2.3)
  • Heart(2)
genes like me logo Genes that share expression patterns with PPIL1: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPIL1 Gene

Orthologs for PPIL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPIL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPIL1 30 31
  • 100 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPIL1 31
  • 95 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPIL1 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PPIL1 30 31
  • 92.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPIL1 30 31
  • 92.37 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppil1 30 17 31
  • 88.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ppil1 30
  • 88.15 (n)
Chicken
(Gallus gallus)
Aves PPIL1 31
  • 84 (a)
OneToOne
LOC100859332 30
  • 73.29 (n)
Lizard
(Anolis carolinensis)
Reptilia PPIL1 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppil1 30
  • 73.69 (n)
Str.6409 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398596 30
Zebrafish
(Danio rerio)
Actinopterygii ppil1 30 31
  • 77.37 (n)
OneToOne
wufe11h12 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12744 30
Fruit Fly
(Drosophila melanogaster)
Insecta Cypl 30 31 32
  • 67.09 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012376 30
  • 64.39 (n)
Worm
(Caenorhabditis elegans)
Secernentea cyp-12 32
  • 68 (a)
cyn-12 30 31
  • 61.67 (n)
OneToOne
cyp-16 32
  • 52 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G36130 30
  • 62.08 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0559400 30
  • 65.34 (n)
Os.5480 30
Barley
(Hordeum vulgare)
Liliopsida Hv.10736 30
Wheat
(Triticum aestivum)
Liliopsida Ta.22715 30
Corn
(Zea mays)
Liliopsida Zm.13687 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 67 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU00578 30
  • 65.11 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cyp1 30
  • 63.33 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14063 30
Species where no ortholog for PPIL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • 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)
  • 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)

Evolution for PPIL1 Gene

ENSEMBL:
Gene Tree for PPIL1 (if available)
TreeFam:
Gene Tree for PPIL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPIL1: view image

Paralogs for PPIL1 Gene

(22) SIMAP similar genes for PPIL1 Gene using alignment to 1 proteins:

  • PPIL1_HUMAN

Pseudogenes.org Pseudogenes for PPIL1 Gene

genes like me logo Genes that share paralogs with PPIL1: view

Variants for PPIL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPIL1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs12194408 - p.Cys36Ser

Additional dbSNP identifiers (rs#s) for PPIL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PPIL1 Gene

Variant ID Type Subtype PubMed ID
nsv1015689 CNV gain 25217958
nsv5262 CNV deletion 18451855

Variation tolerance for PPIL1 Gene

Residual Variation Intolerance Score: 46.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.94; 36.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPIL1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPIL1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPIL1 Gene

Disorders for PPIL1 Gene

No disorders were found for PPIL1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPIL1 Gene

Publications for PPIL1 Gene

  1. Cloning, expression and chromosomal mapping of a novel cyclophilin-related gene (PPIL1) from human fetal brain. (PMID: 8978786) Ozaki K … Shin S (Cytogenetics and cell genetics 1996) 2 3 4 23
  2. The crystal structure of PPIL1 bound to cyclosporine A suggests a binding mode for a linear epitope of the SKIP protein. (PMID: 20368803) Stegmann CM … Wahl MC (PloS one 2010) 3 4 23
  3. Solution structure of human peptidyl prolyl isomerase-like protein 1 and insights into its interaction with SKIP. (PMID: 16595688) Xu C … Zhang Q (The Journal of biological chemistry 2006) 3 4 23
  4. Reassignment of peptidyl prolyl isomerase-like 1 gene (PPIL1) to human chromosome region 6p21.1 by radiation hybrid mapping and fluorescence in situ hybridization. (PMID: 10072585) Mann SS … Hart TC (Cytogenetics and cell genetics 1998) 2 3 23
  5. Cryo-EM structure of a human spliceosome activated for step 2 of splicing. (PMID: 28076346) Bertram K … Lührmann R (Nature 2017) 3 4

Products for PPIL1 Gene

Sources for PPIL1 Gene