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    PPIH peptidylprolyl isomerase H [ Homo sapiens (human) ]

    Gene ID: 10465, updated on 27-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
    • 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 (94) 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)

    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 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 
    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-containing complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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