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PPIH peptidylprolyl isomerase H [ Homo sapiens (human) ]

Gene ID: 10465, updated on 2-Nov-2024

Summary

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Official Symbol
PPIHprovided by HGNC
Official Full Name
peptidylprolyl isomerase Hprovided by HGNC
Primary source
HGNC:HGNC:14651
See related
Ensembl:ENSG00000171960 MIM:606095; AllianceGenome:HGNC:14651
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
CYPH; CYP-20; USA-CYP; SnuCyp-20
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 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]
Expression
Ubiquitous expression in bone marrow (RPKM 2.8), lymph node (RPKM 2.7) and 25 other tissues See more
Orthologs
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Genomic context

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See PPIH in Genome Data Viewer
Location:
1p34.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42658423..42681654)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42528918..42552149)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43124094..43142429)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 30 Neighboring gene TMSB4X pseudogene 1 Neighboring gene MPRA-validated peak194 silencer Neighboring gene uncharacterized LOC124904162 Neighboring gene RNA, U6 small nuclear 536, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 765 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 766 Neighboring gene Y-box binding protein 1 Neighboring gene claudin 19

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. PPIH gene regulation system and its prognostic significance in hepatocellular carcinoma: a comprehensive analysis. Ye J, et al. Aging (Albany NY), 2023 Oct 23. PMID 37874737, Free PMC Article
  2. Crystal structure of the human U4/U6 small nuclear ribonucleoprotein particle-specific SnuCyp-20, a nuclear cyclophilin. Reidt U, et al. J Biol Chem, 2000 Mar 17. PMID 10713041
  3. Two protein-protein interaction sites on the spliceosome-associated human cyclophilin CypH. Ingelfinger D, et al. Nucleic Acids Res, 2003 Aug 15. PMID 12907720, Free PMC Article
  4. A new cyclophilin and the human homologues of yeast Prp3 and Prp4 form a complex associated with U4/U6 snRNPs. Horowitz DS, et al. RNA, 1997 Dec. PMID 9404889, Free PMC Article
  5. A cyclophilin functions in pre-mRNA splicing. Horowitz DS, et al. EMBO J, 2002 Feb 1. PMID 11823439, Free PMC Article

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PPIH gene regulation system and its prognostic significance in hepatocellular carcinoma: a comprehensive analysis.
    Title: PPIH gene regulation system and its prognostic significance in hepatocellular carcinoma: a comprehensive analysis.
  2. Free and complexed cyclophilin H have virtually identical conformations suggesting that the U4/U6-60K binding site is pre-shaped and the peptidyl-prolyl-cis/trans isomerase activity is unaffected by complex formation
    Title: Crystal structure of a complex between human spliceosomal cyclophilin H and a U4/U6 snRNP-60K peptide.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human peptidylprolyl isomerase H (PPIH; cyclophilin H) at amino acid residues 69-70 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC5016

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
enables ribonucleoprotein complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA splicing, via spliceosome IC
Inferred by Curator
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 peptidyl-prolyl isomerization IEA
Inferred from Electronic Annotation
more info
  
involved_in protein-containing complex assembly TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of U4/U6 snRNP IDA
Inferred from Direct Assay
more info
 PubMed 
part_of U4/U6 x U5 tri-snRNP complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of spliceosomal complex IC
Inferred by Curator
more info
 PubMed 

General protein information

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Preferred Names
peptidyl-prolyl cis-trans isomerase H
Names
PPIase h
U-snRNP-associated cyclophilin SnuCyp-20
U-snRNP-associated cyclophilin SunCyp-20
USA-CyP SnuCyp-20
cyclophilin H
rotamase H
small nuclear ribonucleoprotein particle-specific cyclophilin H
NP_001317439.1
NP_006338.1
XP_005270419.1
XP_047286822.1
XP_054189823.1
XP_054189824.1

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)

  1. NM_001330510.2 → NP_001317439.1  peptidyl-prolyl cis-trans isomerase H isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoformn 1.
    Source sequence(s)
    AC098484
    UniProtKB/TrEMBL
    A0A7I2YQS4
    Related
    ENSP00000504195.1, ENST00000677312.1
    Conserved Domains (1) summary
    cl00197
    Location:8 → 132
    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 immunosuppressive drug ...

  2. NM_006347.4 → NP_006338.1  peptidyl-prolyl cis-trans isomerase H isoform 1

    See identical proteins and their annotated locations for NP_006338.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC003412, BU955702
    Consensus CDS
    CCDS469.1
    UniProtKB/Swiss-Prot
    A6NNE7, O43447
    UniProtKB/TrEMBL
    D3DPW5, Q6FH36, Q6FH57
    Related
    ENSP00000306614.3, ENST00000304979.8
    Conserved Domains (1) summary
    cl00197
    Location:8 → 177
    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 immunosuppressive drug ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    42658423..42681654
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430866.1 → XP_047286822.1  peptidyl-prolyl cis-trans isomerase H isoform X1

    UniProtKB/Swiss-Prot
    A6NNE7, O43447
    UniProtKB/TrEMBL
    D3DPW5, Q6FH36

  2. XM_005270362.2 → XP_005270419.1  peptidyl-prolyl cis-trans isomerase H isoform X1

    See identical proteins and their annotated locations for XP_005270419.1

    UniProtKB/Swiss-Prot
    A6NNE7, O43447
    UniProtKB/TrEMBL
    D3DPW5, Q6FH36, Q6FH57
    Related
    ENSP00000503384.1, ENST00000678333.1
    Conserved Domains (1) summary
    cl00197
    Location:8 → 177
    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 immunosuppressive drug ...

RNA

  1. XR_946525.1 RNA Sequence

  2. XR_007063970.1 RNA Sequence

  3. XR_001736914.1 RNA Sequence

  4. XR_001736915.1 RNA Sequence

  5. XR_946524.1 RNA Sequence

  6. XR_946523.1 RNA Sequence

  7. XR_007063973.1 RNA Sequence

  8. XR_007063972.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    42528918..42552149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333849.1 → XP_054189824.1  peptidyl-prolyl cis-trans isomerase H isoform X1

    UniProtKB/Swiss-Prot
    A6NNE7, O43447
    UniProtKB/TrEMBL
    D3DPW5, Q6FH36

  2. XM_054333848.1 → XP_054189823.1  peptidyl-prolyl cis-trans isomerase H isoform X1

    UniProtKB/Swiss-Prot
    A6NNE7, O43447
    UniProtKB/TrEMBL
    D3DPW5, Q6FH36

RNA

  1. XR_008485870.1 RNA Sequence

  2. XR_008485869.1 RNA Sequence

  3. XR_008485866.1 RNA Sequence

  4. XR_008485868.1 RNA Sequence

  5. XR_008485865.1 RNA Sequence

  6. XR_008485867.1 RNA Sequence

  7. XR_008485872.1 RNA Sequence

  8. XR_008485871.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43447.1 GenPept UniProtKB/Swiss-Prot:O43447

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