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

Gene ID: 23759, updated on 3-May-2020

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
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

Genomic context

See PPIL2 in Genome Data Viewer
Location:
22q11.21
Exon count:
24
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (21665984..21700015)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22020273..22052202)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985532 Neighboring gene microRNA 130b Neighboring gene yippee like 1 Neighboring gene RNA, 7SL, cytoplasmic 280, pseudogene Neighboring gene mitogen-activated protein kinase 1 Neighboring gene RNA, 5S ribosomal pseudogene 493

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC787, FLJ39930, MGC33174

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT cyclosporin A binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT peptidyl-prolyl cis-trans isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin-ubiquitin ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin-ubiquitin ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
leukocyte migration TAS
Traceable Author Statement
more info
 
protein folding IEA
Inferred from Electronic Annotation
more info
 
protein localization to plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein peptidyl-prolyl isomerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
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_005261505.1
XP_011528343.1
XP_011528344.1
XP_011528345.1
XP_011528346.1
XP_011528348.1
XP_011528349.1
XP_011528351.1
XP_011528352.1
XP_011528353.1
XP_016884194.1
XP_016884195.1
XP_024307961.1

NCBI Reference Sequences (RefSeq)

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_001317996.1NP_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)
    AA743164, AK127259, AK289545, DA863607
    Consensus CDS
    CCDS13793.1
    UniProtKB/Swiss-Prot
    Q13356
    UniProtKB/TrEMBL
    A0A024R1C1, A8K0I0
    Related
    ENSP00000384299.1, ENST00000406385.1
    Conserved Domains (3) summary
    smart00504
    Location:42101
    Ubox; Modified RING finger domain
    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 ...
    cl00751
    Location:54170
    DUF155; uncharacterized ACR, YagE family COG1723
  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
    UniProtKB/TrEMBL
    A0A024R1C1
    Related
    ENSP00000381812.3, ENST00000398831.8
    Conserved Domains (3) summary
    smart00504
    Location:42101
    Ubox; Modified RING finger domain
    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 ...
    cl00751
    Location:54170
    DUF155; uncharacterized ACR, YagE family COG1723
  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
    UniProtKB/TrEMBL
    A0A024R1C1
    Related
    ENSP00000334553.7, ENST00000335025.12
    Conserved Domains (3) summary
    smart00504
    Location:42101
    Ubox; Modified RING finger domain
    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 ...
    cl00751
    Location:54170
    DUF155; uncharacterized ACR, YagE family COG1723
  4. NM_148176.2NP_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)
    AA743164, AK127259, BC000022, BC028385, DA863607
    Consensus CDS
    CCDS46670.1
    UniProtKB/Swiss-Prot
    Q13356
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    21665984..21700015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261448.4XP_005261505.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

    See identical proteins and their annotated locations for XP_005261505.1

    UniProtKB/Swiss-Prot
    Q13356
    UniProtKB/TrEMBL
    A0A024R1C1
    Conserved Domains (3) summary
    smart00504
    Location:42101
    Ubox; Modified RING finger domain
    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 ...
    cl00751
    Location:54170
    DUF155; uncharacterized ACR, YagE family COG1723
  2. XM_011530047.3XP_011528349.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

    See identical proteins and their annotated locations for XP_011528349.1

    UniProtKB/Swiss-Prot
    Q13356
    UniProtKB/TrEMBL
    A0A024R1C1
    Conserved Domains (3) summary
    smart00504
    Location:42101
    Ubox; Modified RING finger domain
    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 ...
    cl00751
    Location:54170
    DUF155; uncharacterized ACR, YagE family COG1723
  3. XM_011530046.3XP_011528348.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

    See identical proteins and their annotated locations for XP_011528348.1

    UniProtKB/Swiss-Prot
    Q13356
    UniProtKB/TrEMBL
    A0A024R1C1
    Conserved Domains (3) summary
    smart00504
    Location:42101
    Ubox; Modified RING finger domain
    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 ...
    cl00751
    Location:54170
    DUF155; uncharacterized ACR, YagE family COG1723
  4. XM_011530042.3XP_011528344.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X2

    Conserved Domains (3) summary
    smart00504
    Location:42101
    Ubox; Modified RING finger domain
    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 ...
    cl00751
    Location:54170
    DUF155; uncharacterized ACR, YagE family COG1723
  5. XM_011530044.3XP_011528346.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X4

    Conserved Domains (3) summary
    smart00504
    Location:42101
    Ubox; Modified RING finger domain
    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 ...
    cl00751
    Location:54170
    DUF155; uncharacterized ACR, YagE family COG1723
  6. XM_011530043.3XP_011528345.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X3

    Conserved Domains (3) summary
    smart00504
    Location:42101
    Ubox; Modified RING finger domain
    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 ...
    cl00751
    Location:54170
    DUF155; uncharacterized ACR, YagE family COG1723
  7. XM_011530041.3XP_011528343.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X1

    Conserved Domains (3) summary
    smart00504
    Location:42101
    Ubox; Modified RING finger domain
    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 ...
    cl00751
    Location:54170
    DUF155; uncharacterized ACR, YagE family COG1723
  8. XM_024452193.1XP_024307961.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X7

    Conserved Domains (3) summary
    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
  9. XM_011530049.2XP_011528351.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X6

    See identical proteins and their annotated locations for XP_011528351.1

    Conserved Domains (1) summary
    cd01923
    Location:103262
    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 ...
  10. XM_011530050.2XP_011528352.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X6

    See identical proteins and their annotated locations for XP_011528352.1

    Conserved Domains (1) summary
    cd01923
    Location:103262
    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 ...
  11. XM_011530051.2XP_011528353.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X6

    See identical proteins and their annotated locations for XP_011528353.1

    Conserved Domains (1) summary
    cd01923
    Location:103262
    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 ...
  12. XM_017028706.2XP_016884195.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X9

    Related
    ENST00000446951.1
  13. XM_017028705.1XP_016884194.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X8

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