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

Gene ID: 285755, updated on 3-Apr-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 peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding and protein peptidyl-prolyl isomerization. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (109390215..109441171, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (110568252..110619209, complement)
105.20220307 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
  • 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
NOT enables cyclosporin A binding IDA
Inferred from Direct Assay
more info
 PubMed 
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 
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_2023_10

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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