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Aliases for PPIH Gene

Aliases for PPIH Gene

  • Peptidylprolyl Isomerase H 2 3 5
  • Small Nuclear Ribonucleoprotein Particle-Specific Cyclophilin H 2 3 4
  • Rotamase H 2 3 4
  • PPIase H 2 3 4
  • U-SnRNP-Associated Cyclophilin SunCyp-20 2 3
  • U-SnRNP-Associated Cyclophilin SnuCyp-20 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase H 2 3
  • USA-CyP SnuCyp-20 2 3
  • Cyclophilin H 2 3
  • EC 5.2.1.8 4 58
  • USA-CYP 3 4
  • CYPH 3 4
  • Peptidyl Prolyl Isomerase H (Cyclophilin H) 2
  • SnuCyp-20 3
  • CYP-20 3
  • CYP20 4

External Ids for PPIH Gene

Previous GeneCards Identifiers for PPIH Gene

  • GC01P043097
  • GC01P042127
  • GC01P042537
  • GC01P042793
  • GC01P042897
  • GC01P041244

Summaries for PPIH Gene

Entrez Gene Summary for PPIH 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 is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008]

GeneCards Summary for PPIH Gene

PPIH (Peptidylprolyl Isomerase H) is a Protein Coding gene. Diseases associated with PPIH include Retinitis Pigmentosa. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include peptidyl-prolyl cis-trans isomerase activity and cyclosporin A binding. An important paralog of this gene is PPIC.

UniProtKB/Swiss-Prot for PPIH Gene

  • PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. May act as a chaperone.

Gene Wiki entry for PPIH Gene

Additional gene information for PPIH Gene

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

Genomics for PPIH Gene

Regulatory Elements for PPIH Gene

Enhancers for PPIH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H042657 1.1 ENCODE 50.5 +0.6 595 2 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 PPIH MED8 SVBP KDM4A SZT2 P3H1 CCDC30 ENSG00000234917
GH01H042680 1.1 ENCODE 49.7 +24.8 24761 4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 PPIH SZT2 FOXJ3 SVBP P3H1 MED8 CLDN19 YBX1 GC01P042719
GH01H042764 1.1 ENCODE 40.4 +108.7 108681 3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 CBX5 PPIH SVBP SZT2 FOXJ3 KDM4A-AS1 MED8 P3H1 ZNF691 GC01M042745
GH01H042164 1.3 Ensembl ENCODE 28 -492.3 -492256 2 FOXA2 ZNF493 ARID4B SIN3A ZNF2 ZNF121 GLIS2 FOS KLF7 ZNF548 PPIH FOXJ3 P3H1 CCDC30 ZNF691 SCMH1 ENSG00000227527 GC01P042164 PIR49391 GC01M042279
GH01H043056 1.4 FANTOM5 Ensembl ENCODE 20.7 +400.5 400511 3 HDGF KLF1 NFIB KLF17 ZIC2 ZNF316 CTBP1 PRDM10 NFE2 MAFK PPIH SZT2 RNU6-880P P3H1 ARTN LOC105378683 ENSG00000228192 ZNF691 ELOVL1 ENSG00000229431
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PPIH on UCSC Golden Path with GeneCards custom track

Promoters for PPIH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005488 730 1401 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for PPIH Gene

Chromosome:
1
Start:
42,657,770 bp from pter
End:
42,681,654 bp from pter
Size:
23,885 bases
Orientation:
Plus strand

Genomic View for PPIH Gene

Genes around PPIH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PPIH Gene

Proteins for PPIH Gene

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

    Protein Symbol:
    O43447-PPIH_HUMAN
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase H
    Protein Accession:
    O43447
    Secondary Accessions:
    • A6NNE7

    Protein attributes for PPIH Gene

    Size:
    177 amino acids
    Molecular mass:
    19208 Da
    Quaternary structure:
    • Interacts directly with PRPF4. Part of a heteromeric complex containing PPIH, PRPF3 and PRPF4 that is stable in the absence of RNA. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Heterodimer with PRPF18.

    Three dimensional structures from OCA and Proteopedia for PPIH Gene

    Alternative splice isoforms for PPIH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPIH Gene

Selected DME Specific Peptides for PPIH Gene

O43447:
  • GSTFHRVI
  • GLLSMAN
  • FMIQGGD
  • DVVPKTA
  • PKTAENF
  • TAENFRQFCTGE
  • DENFKLRH
  • LDGKHVVFG
  • LLSMANSGP

Post-translational modifications for PPIH Gene

  • Ubiquitination at Lys61 and posLast=101101
  • Modification sites at PhosphoSitePlus

Domains & Families for PPIH Gene

Gene Families for PPIH Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

O43447

UniProtKB/Swiss-Prot:

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

Function for PPIH Gene

Molecular function for PPIH Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Peptidylproline (omega=180) = peptidylproline (omega=0).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by cyclosporin A.
UniProtKB/Swiss-Prot Function:
PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Participates in pre-mRNA splicing. May play a role in the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. May act as a chaperone.

Enzyme Numbers (IUBMB) for PPIH Gene

Phenotypes From GWAS Catalog for PPIH Gene

Gene Ontology (GO) - Molecular Function for PPIH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IDA,IEA 9570313
GO:0005515 protein binding IPI 9570313
GO:0016018 cyclosporin A binding TAS 9570313
GO:0016853 isomerase activity IEA --
GO:0043021 ribonucleoprotein complex binding IDA 9570313
genes like me logo Genes that share ontologies with PPIH: view
genes like me logo Genes that share phenotypes with PPIH: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PPIH

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PPIH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for PPIH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPIH Gene

Nucleus speckle. Cytoplasm. Note=Colocalizes with spliceosomal snRNPs. A small proportion may also be cytoplasmic.

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 PPIH gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PPIH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IC 9570313
GO:0005737 cytoplasm IEA,IDA 9570313
GO:0016607 nuclear speck IDA 9570313
genes like me logo Genes that share ontologies with PPIH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPIH Gene

Pathways & Interactions for PPIH Gene

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

Pathways by source for PPIH Gene

Gene Ontology (GO) - Biological Process for PPIH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0006397 mRNA processing IEA --
GO:0006457 protein folding IEA --
GO:0006461 protein complex assembly TAS 9570313
genes like me logo Genes that share ontologies with PPIH: view

No data available for SIGNOR curated interactions for PPIH Gene

Drugs & Compounds for PPIH Gene

(1) Drugs for PPIH Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Proline Approved Nutra Target 0
genes like me logo Genes that share compounds with PPIH: view

Transcripts for PPIH Gene

Unigene Clusters for PPIH Gene

Peptidylprolyl isomerase H (cyclophilin H):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PPIH
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1: - - - -
SP2: - - -
SP3: - -
SP4:
SP5:

Relevant External Links for PPIH Gene

GeneLoc Exon Structure for
PPIH
ECgene alternative splicing isoforms for
PPIH

Expression for PPIH Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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



Protein tissue co-expression partners for PPIH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPIH Gene:

PPIH

SOURCE GeneReport for Unigene cluster for PPIH Gene:

Hs.256639

Evidence on tissue expression from TISSUES for PPIH Gene

  • Nervous system(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with PPIH: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPIH Gene

Orthologs for PPIH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPIH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPIH 33 34
  • 99.81 (n)
oppossum
(Monodelphis domestica)
Mammalia PPIH 34
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PPIH 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PPIH 33 34
  • 93.79 (n)
rat
(Rattus norvegicus)
Mammalia Ppih 33
  • 93.56 (n)
cow
(Bos Taurus)
Mammalia PPIH 33 34
  • 92.66 (n)
mouse
(Mus musculus)
Mammalia Ppih 33 16 34
  • 92.66 (n)
chicken
(Gallus gallus)
Aves PPIH 33 34
  • 80.41 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ppih 33
  • 79.66 (n)
MGC76244 33
zebrafish
(Danio rerio)
Actinopterygii ppih 33 34
  • 76.27 (n)
zgc55766 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8742 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007392 33
  • 69.01 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17266 35 33 34
  • 68.62 (n)
ninaA 35
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea cyp-11 35
  • 70 (a)
cyn-11 33 34
  • 63.92 (n)
cyp-8 35
  • 55 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPR2 34
  • 43 (a)
ManyToMany
CPR5 34
  • 37 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G38730 33
  • 68.81 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2140 33
rice
(Oryza sativa)
Liliopsida Os03g0811600 33
  • 66.86 (n)
Os.27981 33
wheat
(Triticum aestivum)
Liliopsida Ta.18236 33
corn
(Zea mays)
Liliopsida Zm.2051 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.534 34
  • 72 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02614 33
  • 62.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cyp3 33
  • 58.78 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4482 33
Species where no ortholog for PPIH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 PPIH Gene

ENSEMBL:
Gene Tree for PPIH (if available)
TreeFam:
Gene Tree for PPIH (if available)

Paralogs for PPIH Gene

Paralogs for PPIH Gene

Pseudogenes.org Pseudogenes for PPIH Gene

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

Variants for PPIH Gene

Sequence variations from dbSNP and Humsavar for PPIH Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000074381 -- 42,659,687(+) TTTTG(C/T)GGACT intron-variant
rs1000127476 -- 42,665,411(+) AAAAC(-/AAAGAAAAG)AAAGA intron-variant
rs1000178335 -- 42,665,666(+) ATAGT(A/G)AGACT intron-variant
rs1000452702 -- 42,672,491(+) GTGCC(C/T)AGGCA intron-variant, utr-variant-3-prime
rs1000688579 -- 42,658,385(+) ATCCG(C/G)GGACC upstream-variant-2KB, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv2671740 CNV deletion 23128226
esv3577249 CNV gain 25503493
nsv829682 CNV loss 17160897

Variation tolerance for PPIH Gene

Residual Variation Intolerance Score: 44.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPIH Gene

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

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

Disorders for PPIH Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPIH Gene - From: GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search PPIH in MalaCards View complete list of genes associated with diseases

Relevant External Links for PPIH

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPIH
genes like me logo Genes that share disorders with PPIH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPIH Gene

Publications for PPIH Gene

  1. The 20kD protein of human [U4/U6.U5] tri-snRNPs is a novel cyclophilin that forms a complex with the U4/U6-specific 60kD and 90kD proteins. (PMID: 9570313) Teigelkamp S … Lührmann R (RNA (New York, N.Y.) 1998) 2 3 4 60
  2. A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs. (PMID: 9404889) Horowitz DS … Krainer AR (RNA (New York, N.Y.) 1997) 2 3 4 60
  3. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. (PMID: 16723661) Liu S … Lührmann R (RNA (New York, N.Y.) 2006) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Crystal structure of a complex between human spliceosomal cyclophilin H and a U4/U6 snRNP-60K peptide. (PMID: 12875835) Reidt U … Ficner R (Journal of molecular biology 2003) 3 4 60

Products for PPIH Gene

Sources for PPIH Gene

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