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PPIL2 peptidylprolyl isomerase like 2 [ Homo sapiens (human) ]

Gene ID: 23759, updated on 2-Nov-2024

Summary

Official Symbol
PPIL2provided by HGNC
Official Full Name
peptidylprolyl isomerase like 2provided by HGNC
Primary source
HGNC:HGNC:9261
See related
Ensembl:ENSG00000100023 MIM:607588; AllianceGenome:HGNC:9261
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
CYC4; CYP60; UBOX7; Cyp-60; hCyP-60
Summary
This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in thyroid (RPKM 15.3), lymph node (RPKM 12.4) and 25 other tissues See more
Orthologs
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Genomic context

See PPIL2 in Genome Data Viewer
Location:
22q11.21-q11.22
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21666012..21700015)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (22079481..22113495)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22020301..22054304)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22006726-22007397 Neighboring gene uncharacterized LOC107985532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13513 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22020233-22021143 Neighboring gene microRNA 301b Neighboring gene microRNA 130b Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22029290-22029497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22035719-22036220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22041165-22041665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18703 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:22064332-22065531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18704 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22068158-22068316 Neighboring gene yippee like 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22077940-22078170 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22084296-22084483 Neighboring gene RNA, 7SL, cytoplasmic 280, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13515 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18707 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22112788-22113234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18710 Neighboring gene mitogen-activated protein kinase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22144051-22144194 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:22145734-22146933 Neighboring gene RNA, 5S ribosomal pseudogene 493

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC787, FLJ39930, MGC33174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin-ubiquitin ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA splicing IEA
Inferred from Electronic Annotation
more info
 
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in protein folding IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in protein folding IEA
Inferred from Electronic Annotation
more info
 
involved_in protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein peptidyl-prolyl isomerization IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi lumen TAS
Traceable Author Statement
more info
 
part_of catalytic step 2 spliceosome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus TAS
Traceable Author Statement
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
RING-type E3 ubiquitin-protein ligase PPIL2
Names
PPIase
RING-type E3 ubiquitin transferase isomerase-like 2
U-box domain containing 7
cyclophilin, 60kDa
cyclophilin-60
cyclophilin-like protein CyP-60
peptidyl-prolyl cis-trans isomerase-like 2
peptidylprolyl cis-trans isomerase
peptidylprolyl isomerase (cyclophilin)-like 2
probable inactive peptidyl-prolyl cis-trans isomerase-like 2
rotamase PPIL2
NP_001304925.1
NP_055152.1
NP_680480.1
NP_680481.1
XP_011528343.1
XP_011528345.1
XP_011528348.1
XP_011528351.1
XP_024307961.1
XP_047297223.1
XP_047297224.1
XP_054181380.1
XP_054181381.1
XP_054181382.1
XP_054181383.1
XP_054181384.1
XP_054181385.1
XP_054181386.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001317996.2NP_001304925.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks a segment in the 3' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (a).
    Source sequence(s)
    AP000553
    Consensus CDS
    CCDS13793.1
    UniProtKB/Swiss-Prot
    Q13356, Q13357, Q8TAH2, Q9BWR8
    UniProtKB/TrEMBL
    A8K0I0
    Related
    ENSP00000506144.1, ENST00000679795.1
    Conserved Domains (4) summary
    cd01923
    Location:281440
    cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
    cd00162
    Location:103146
    RING_Ubox; U-box domain, a modified RING finger [structural motif]
    cd16663
    Location:38110
    RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
    cl17238
    Location:100159
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  2. NM_014337.4NP_055152.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform a

    See identical proteins and their annotated locations for NP_055152.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 4 encode the same isoform (a).
    Source sequence(s)
    AP000553
    Consensus CDS
    CCDS13793.1
    UniProtKB/Swiss-Prot
    Q13356, Q13357, Q8TAH2, Q9BWR8
    UniProtKB/TrEMBL
    A8K0I0
    Related
    ENSP00000381812.3, ENST00000398831.8
    Conserved Domains (4) summary
    cd01923
    Location:281440
    cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
    cd00162
    Location:103146
    RING_Ubox; U-box domain, a modified RING finger [structural motif]
    cd16663
    Location:38110
    RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
    cl17238
    Location:100159
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  3. NM_148175.3NP_680480.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform a

    See identical proteins and their annotated locations for NP_680480.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a segment in the 3' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (a).
    Source sequence(s)
    AA743164, AK127259, AP000553, BC028385, DA863607, U37221
    Consensus CDS
    CCDS13793.1
    UniProtKB/Swiss-Prot
    Q13356, Q13357, Q8TAH2, Q9BWR8
    UniProtKB/TrEMBL
    A8K0I0
    Related
    ENSP00000334553.7, ENST00000335025.12
    Conserved Domains (4) summary
    cd01923
    Location:281440
    cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
    cd00162
    Location:103146
    RING_Ubox; U-box domain, a modified RING finger [structural motif]
    cd16663
    Location:38110
    RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
    cl17238
    Location:100159
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  4. NM_148176.3NP_680481.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform b

    See identical proteins and their annotated locations for NP_680481.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate acceptor splice site in the 3' coding region that results in a frameshift compared to variant 1. The encoded isoform (b) contains a longer and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK127259, BC000022, BC028385, DA863607
    Consensus CDS
    CCDS46670.1
    UniProtKB/TrEMBL
    A8K0I0
    Related
    ENSP00000486725.1, ENST00000626352.2
    Conserved Domains (3) summary
    cd01923
    Location:281440
    cyclophilin_RING; cyclophilin_RING: cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal ...
    cd16663
    Location:38110
    RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
    cl17238
    Location:100159
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    21666012..21700015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530049.3XP_011528351.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

    See identical proteins and their annotated locations for XP_011528351.1

    Conserved Domains (1) summary
    cd01923
    Location:103262
    cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
  2. XM_011530046.4XP_011528348.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X4

    See identical proteins and their annotated locations for XP_011528348.1

    UniProtKB/Swiss-Prot
    Q13356, Q13357, Q8TAH2, Q9BWR8
    UniProtKB/TrEMBL
    A8K0I0
    Related
    ENSP00000506328.1, ENST00000679540.1
    Conserved Domains (4) summary
    cd01923
    Location:281440
    cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
    cd00162
    Location:103146
    RING_Ubox; U-box domain, a modified RING finger [structural motif]
    cd16663
    Location:38110
    RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
    cl17238
    Location:100159
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  3. XM_047441267.1XP_047297223.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X3

  4. XM_011530041.4XP_011528343.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X1

    UniProtKB/TrEMBL
    A0A7P0TB19
    Related
    ENSP00000506368.1, ENST00000680094.1
    Conserved Domains (4) summary
    cd01923
    Location:281440
    cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
    cd00162
    Location:103146
    RING_Ubox; U-box domain, a modified RING finger [structural motif]
    cd16663
    Location:38110
    RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
    cl17238
    Location:100159
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  5. XM_011530043.4XP_011528345.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X2

    UniProtKB/TrEMBL
    A0A7P0T8E8
    Conserved Domains (4) summary
    cd01923
    Location:281440
    cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
    cd00162
    Location:103146
    RING_Ubox; U-box domain, a modified RING finger [structural motif]
    cd16663
    Location:38110
    RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
    cl17238
    Location:100159
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  6. XM_024452193.2XP_024307961.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X6

    UniProtKB/TrEMBL
    A0A7P0TBL3
    Related
    ENSP00000506723.1, ENST00000679580.1
    Conserved Domains (4) summary
    cd00162
    Location:103146
    RING_Ubox; U-box domain, a modified RING finger [structural motif]
    cd16663
    Location:38110
    RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
    cl00197
    Location:281401
    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 ...
    cl17238
    Location:100159
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
  7. XM_047441268.1XP_047297224.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    22079481..22113495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325409.1XP_054181384.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

  2. XM_054325408.1XP_054181383.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X4

    UniProtKB/Swiss-Prot
    Q13356, Q13357, Q8TAH2, Q9BWR8
  3. XM_054325407.1XP_054181382.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X3

  4. XM_054325405.1XP_054181380.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X1

  5. XM_054325406.1XP_054181381.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X2

  6. XM_054325411.1XP_054181386.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X6

    UniProtKB/TrEMBL
    A0A7P0TBL3
  7. XM_054325410.1XP_054181385.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5