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    PPIL6 peptidylprolyl isomerase like 6 [ Homo sapiens (human) ]

    Gene ID: 285755, updated on 2-Nov-2024

    Summary

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    Official Symbol
    PPIL6provided by HGNC
    Official Full Name
    peptidylprolyl isomerase like 6provided by HGNC
    Primary source
    HGNC:HGNC:21557
    See related
    Ensembl:ENSG00000185250 AllianceGenome:HGNC:21557
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PPIase; RSPH12; bA425D10.6; dJ919F19.1
    Summary
    Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein peptidyl-prolyl isomerization. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 2.1), thyroid (RPKM 1.7) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPIL6 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (109390215..109441171, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110568252..110619209, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (109711418..109762374, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 162, pseudogene Neighboring gene OCT4 hESC enhancer GRCh37_chr6:109649788-109650315 Neighboring gene ribosomal protein L7 pseudogene 28 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17458 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:109703563-109704072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24923 Neighboring gene Sharpr-MPRA regulatory region 15445 Neighboring gene CD164 molecule Neighboring gene ReSE screen-validated silencer GRCh37_chr6:109761883-109762088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24924 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24926 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24927 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109775979-109776487 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17462 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24929 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:109801913-109802414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17464 Neighboring gene microtubule associated monooxygenase, calponin and LIM domain containing 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:109811810-109812520 Neighboring gene sphingomyelin phosphodiesterase 2 Neighboring gene ZBTB24 divergent transcript Neighboring gene zinc finger and BTB domain containing 24 Neighboring gene adenylate kinase 9

    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. Structural and biochemical characterization of the human cyclophilin family of peptidyl-prolyl isomerases. Davis TL, et al. PLoS Biol, 2010 Jul 27. PMID 20676357, Free PMC Article
    2. Many sequence variants affecting diversity of adult human height. Gudbjartsson DF, et al. Nat Genet, 2008 May. PMID 18391951
    3. The DNA sequence and analysis of human chromosome 6. Mungall AJ, et al. Nature, 2003 Oct 23. PMID 14574404
    4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Many sequence variants affecting diversity of adult human height.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC27054, MGC27056, MGC41939

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cyclosporin A binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    NOT 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 
    Process Evidence Code Pubs
    involved_in protein peptidyl-prolyl isomerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    probable inactive peptidyl-prolyl cis-trans isomerase-like 6
    Names
    cyclophilin-like protein PPIL6
    peptidyl-prolyl cis-trans isomerase-like 6
    peptidylprolyl isomerase (cyclophilin)-like 6
    problable inactive peptidyl-prolyl cis-trans isomerase-like 6
    radial spoke 12 homolog
    rotamase PPIL6
    NP_001104768.2
    NP_001273289.1
    NP_001273290.1
    NP_775943.1
    XP_011534068.1
    XP_011534069.1
    XP_011534071.1
    XP_024302175.1
    XP_047274629.1
    XP_047274630.1
    XP_047274631.1
    XP_054211200.1
    XP_054211201.1
    XP_054211202.1
    XP_054211203.1
    XP_054211204.1
    XP_054211205.1
    XP_054211206.1

    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_001111298.2 → NP_001104768.2  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform 2

      See identical proteins and their annotated locations for NP_001104768.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes an additional in-frame exon in the 3' coding region, compared to variant 1, resulting in a longer isoform (2), compared to isoform 1.
      Source sequence(s)
      AL359711, BQ012747, DQ423529
      Consensus CDS
      CCDS47466.2
      UniProtKB/TrEMBL
      B2RE39
      Related
      ENSP00000392257.2, ENST00000440797.6
      Conserved Domains (1) summary
      cl00197
      Location:144 → 333
      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_001286360.1 → NP_001273289.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform 3

      See identical proteins and their annotated locations for NP_001273289.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AI052546, AL359711, BQ012747, DA413621, DQ363562
      Consensus CDS
      CCDS69169.1
      UniProtKB/TrEMBL
      B2RE39
      Related
      ENSP00000407731.2, ENST00000424445.6
      Conserved Domains (1) summary
      cl00197
      Location:112 → 275
      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 ...

    3. NM_001286361.1 → NP_001273290.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform 4

      See identical proteins and their annotated locations for NP_001273290.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, and also lacks an exon that results in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL109947, AL359711, BI824055, BQ012747, DA413621, DQ363562
      UniProtKB/TrEMBL
      H0Y7C3
      Related
      ENSP00000427899.1, ENST00000520723.5
      Conserved Domains (1) summary
      cl00197
      Location:95 → 197
      cyclophilin; 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 ...

    4. NM_173672.5 → NP_775943.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform 1

      See identical proteins and their annotated locations for NP_775943.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AL109947, AL359711
      Consensus CDS
      CCDS5074.1
      UniProtKB/Swiss-Prot
      A9NIU0, A9NIU9, E7EX15, Q8IXY8
      UniProtKB/TrEMBL
      B2RE39
      Related
      ENSP00000427929.1, ENST00000521072.7
      Conserved Domains (1) summary
      cl00197
      Location:144 → 307
      cyclophilin; 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 ...

    RNA

    1. NR_104429.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) includes an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK293674, AL359711, BQ012747, DQ363562

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      109390215..109441171 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418673.1 → XP_047274629.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X3

    2. XM_011535766.4 → XP_011534068.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X1

      UniProtKB/TrEMBL
      B4DEK6
      Conserved Domains (1) summary
      cl00197
      Location:127 → 230
      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 ...

    3. XM_024446407.2 → XP_024302175.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X5

      Conserved Domains (1) summary
      cl00197
      Location:95 → 202
      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 ...

    4. XM_047418674.1 → XP_047274630.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X6

    5. XM_047418675.1 → XP_047274631.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X7

    6. XM_011535767.4 → XP_011534069.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X2

      UniProtKB/TrEMBL
      B4DEK6
      Conserved Domains (1) summary
      cl00197
      Location:127 → 234
      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 ...

    7. XM_011535769.3 → XP_011534071.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X4

      UniProtKB/TrEMBL
      B4DEK6
      Conserved Domains (1) summary
      cl00197
      Location:127 → 229
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      110568252..110619209 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355227.1 → XP_054211202.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X3

    2. XM_054355225.1 → XP_054211200.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X1

    3. XM_054355229.1 → XP_054211204.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X5

    4. XM_054355230.1 → XP_054211205.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X6

    5. XM_054355231.1 → XP_054211206.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X7

    6. XM_054355226.1 → XP_054211201.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X2

    7. XM_054355228.1 → XP_054211203.1  probable inactive peptidyl-prolyl cis-trans isomerase-like 6 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXY8.1 GenPept UniProtKB/Swiss-Prot:Q8IXY8

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