Human Gene PIN1 (ENST00000247970.9_4) from GENCODE V47lift37
  Description: peptidylprolyl cis/trans isomerase, NIMA-interacting 1, transcript variant 1 (from RefSeq NM_006221.4)
Gencode Transcript: ENST00000247970.9_4
Gencode Gene: ENSG00000127445.14_6
Transcript (Including UTRs)
   Position: hg19 chr19:9,945,994-9,960,365 Size: 14,372 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr19:9,946,021-9,959,875 Size: 13,855 Coding Exon Count: 4 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:9,945,994-9,960,365)mRNA (may differ from genome)Protein (163 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PIN1_HUMAN
DESCRIPTION: RecName: Full=Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1; EC=5.2.1.8; AltName: Full=Peptidyl-prolyl cis-trans isomerase Pin1; Short=PPIase Pin1; AltName: Full=Rotamase Pin1;
FUNCTION: Essential PPIase that regulates mitosis presumably by interacting with NIMA and attenuating its mitosis-promoting activity. Displays a preference for an acidic residue N-terminal to the isomerized proline bond. Catalyzes pSer/Thr-Pro cis/trans isomerizations. Down-regulates kinase activity of BTK. Can transactivate multiple oncogenes and induce centrosome amplification, chromosome instability and cell transformation. Required for the efficient dephosphorylation and recycling of RAF1 after mitogen activation.
CATALYTIC ACTIVITY: Peptidylproline (omega=180) = peptidylproline (omega=0).
SUBUNIT: Interacts with STIL (By similarity). Interacts with KIF20B. Interacts with NEK6. Interacts (via WW domain) with PRKX. Interacts with BTK. Interacts (via PpiC domain) with DAPK1. Interacts with the phosphorylated form of RAF1. Interacts (via WW domain) with ATCAY; upon NGF stimulation.
INTERACTION: P05067-4:APP; NbExp=2; IntAct=EBI-714158, EBI-302641; Q15131:CDK10; NbExp=5; IntAct=EBI-714158, EBI-1646959; P51617:IRAK1; NbExp=10; IntAct=EBI-714158, EBI-358664; Q9HC98:NEK6; NbExp=3; IntAct=EBI-714158, EBI-740364; P46531:NOTCH1; NbExp=9; IntAct=EBI-714158, EBI-636374; P04637:TP53; NbExp=11; IntAct=EBI-714158, EBI-366083;
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle. Cytoplasm. Note=Co-localizes with NEK6 in the nucleus. Mainly localized in the nucleus but phosphorylation at Ser-71 by DAPK1 results in inhibition of its nuclear localization.
TISSUE SPECIFICITY: The phosphorylated form at Ser-71 is expressed in normal breast tissue cells but not in breast cancer cells.
DOMAIN: The WW domain is required for the interaction with STIL and KIF20B.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylation at Ser-71 by DAPK1 results in inhibition of its catalytic activity, nuclear localization, and its ability to induce centrosome amplification, chromosome instability and cell transformation.
SIMILARITY: Contains 1 PpiC domain.
SIMILARITY: Contains 1 WW domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PIN1
Diseases sorted by gene-association score: meibomian cyst (16), erythema infectiosum (10), viral exanthem (10), alzheimer disease (3), dementia, frontotemporal (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 67.31 RPKM in Brain - Cortex
Total median expression: 1209.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -4.5027-0.167 Picture PostScript Text
3' UTR -222.10490-0.453 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000297 - PPIase_PpiC
IPR023058 - PPIase_PpiC_CS
IPR001202 - WW_Rsp5_WWP

Pfam Domains:
PF00397 - WW domain
PF00639 - PPIC-type PPIASE domain
PF13616 - PPIC-type PPIASE domain

SCOP Domains:
51045 - WW domain
54534 - FKBP-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1F8A - X-ray MuPIT 1I6C - NMR 1I8G - NMR 1I8H - NMR 1NMV - NMR MuPIT 1NMW - NMR MuPIT 1PIN - X-ray MuPIT 1ZCN - X-ray MuPIT 2F21 - X-ray MuPIT 2ITK - X-ray MuPIT 2KBU - NMR 2KCF - NMR MuPIT 2LB3 - NMR MuPIT 2Q5A - X-ray MuPIT 2XP3 - X-ray MuPIT 2XP4 - X-ray MuPIT 2XP5 - X-ray MuPIT 2XP6 - X-ray MuPIT 2XP7 - X-ray MuPIT 2XP8 - X-ray MuPIT 2XP9 - X-ray MuPIT 2XPA - X-ray MuPIT 2XPB - X-ray MuPIT 2ZQS - X-ray MuPIT 2ZQT - X-ray MuPIT 2ZQU - X-ray MuPIT 2ZQV - X-ray MuPIT 2ZR4 - X-ray MuPIT 2ZR5 - X-ray MuPIT 2ZR6 - X-ray MuPIT 3I6C - X-ray MuPIT 3IK8 - X-ray MuPIT 3IKD - X-ray MuPIT 3IKG - X-ray MuPIT 3JYJ - X-ray MuPIT 3KAB - X-ray MuPIT 3KAC - X-ray MuPIT 3KAD - X-ray MuPIT 3KAF - X-ray MuPIT 3KAG - X-ray MuPIT 3KAH - X-ray MuPIT 3KAI - X-ray MuPIT 3KCE - X-ray MuPIT 3NTP - X-ray MuPIT 3ODK - X-ray MuPIT 3OOB - X-ray MuPIT 3TC5 - X-ray MuPIT 3TCZ - X-ray MuPIT 3TDB - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13526
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003755 peptidyl-prolyl cis-trans isomerase activity
GO:0003774 motor activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0016853 isomerase activity
GO:0031434 mitogen-activated protein kinase kinase binding
GO:0032794 GTPase activating protein binding
GO:0050815 phosphoserine binding
GO:0050816 phosphothreonine binding
GO:0051219 phosphoprotein binding

Biological Process:
GO:0000413 protein peptidyl-prolyl isomerization
GO:0001934 positive regulation of protein phosphorylation
GO:0007049 cell cycle
GO:0007088 regulation of mitotic nuclear division
GO:0030182 neuron differentiation
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0032091 negative regulation of protein binding
GO:0032465 regulation of cytokinesis
GO:0032480 negative regulation of type I interferon production
GO:0035307 positive regulation of protein dephosphorylation
GO:0042177 negative regulation of protein catabolic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0043525 positive regulation of neuron apoptotic process
GO:0043547 positive regulation of GTPase activity
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050808 synapse organization
GO:0050821 protein stabilization
GO:0051443 positive regulation of ubiquitin-protein transferase activity
GO:0060393 regulation of pathway-restricted SMAD protein phosphorylation
GO:0061051 positive regulation of cell growth involved in cardiac muscle cell development
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1900180 regulation of protein localization to nucleus
GO:1901796 regulation of signal transduction by p53 class mediator
GO:2000146 negative regulation of cell motility
GO:0046785 microtubule polymerization

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0016607 nuclear speck
GO:0030496 midbody
GO:0043005 neuron projection


-  Descriptions from all associated GenBank mRNAs
  LF384513 - JP 2014500723-A/192016: Polycomb-Associated Non-Coding RNAs.
LF375645 - JP 2014500723-A/183148: Polycomb-Associated Non-Coding RNAs.
AK291074 - Homo sapiens cDNA FLJ77628 complete cds, highly similar to Homo sapiens protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1 (PIN1), mRNA.
AK097558 - Homo sapiens cDNA FLJ40239 fis, clone TESTI2023436, highly similar to Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 (EC 5.2.1.8).
BC002899 - Homo sapiens peptidylprolyl cis/trans isomerase, NIMA-interacting 1, mRNA (cDNA clone MGC:10717 IMAGE:3941595), complete cds.
JD445365 - Sequence 426389 from Patent EP1572962.
U49070 - Human peptidyl-prolyl isomerase and essential mitotic regulator (PIN1) mRNA, complete cds.
AF086512 - Homo sapiens full length insert cDNA clone ZE03B04.
AB385559 - Synthetic construct DNA, clone: pF1KB8003, Homo sapiens PIN1 gene for peptidyl-prolyl cis-trans isomerase NIMA-interacting 1, complete cds, without stop codon, in Flexi system.
CR407654 - Homo sapiens full open reading frame cDNA clone RZPDo834H062D for gene UBL5, ubiquitin-like 5 complete cds, without stopcodon.
BT019331 - Homo sapiens protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1 mRNA, complete cds.
DQ892978 - Synthetic construct clone IMAGE:100005608; FLH191353.01X; RZPDo839C0477D protein (peptidylprolyl cis/trans isomerase) NIMA-interacting 1 (PIN1) gene, encodes complete protein.
DQ896226 - Synthetic construct Homo sapiens clone IMAGE:100010686; FLH191349.01L; RZPDo839C0467D protein (peptidylprolyl cis/trans isomerase) NIMA-interacting 1 (PIN1) gene, encodes complete protein.
CU678280 - Synthetic construct Homo sapiens gateway clone IMAGE:100020196 5' read PIN1 mRNA.
KJ891811 - Synthetic construct Homo sapiens clone ccsbBroadEn_01205 PIN1 gene, encodes complete protein.
BC031971 - Homo sapiens peptidylprolyl cis/trans isomerase, NIMA-interacting 1, mRNA (cDNA clone IMAGE:4828633), complete cds.
AK092970 - Homo sapiens cDNA FLJ35651 fis, clone SPLEN2013670.
AX747830 - Sequence 1355 from Patent EP1308459.
LF375649 - JP 2014500723-A/183152: Polycomb-Associated Non-Coding RNAs.
LF375650 - JP 2014500723-A/183153: Polycomb-Associated Non-Coding RNAs.
DQ593041 - Homo sapiens piRNA piR-33153, complete sequence.
JD123441 - Sequence 104465 from Patent EP1572962.
JD466347 - Sequence 447371 from Patent EP1572962.
JD393478 - Sequence 374502 from Patent EP1572962.
LF375656 - JP 2014500723-A/183159: Polycomb-Associated Non-Coding RNAs.
JD077682 - Sequence 58706 from Patent EP1572962.
JD389091 - Sequence 370115 from Patent EP1572962.
MA620090 - JP 2018138019-A/192016: Polycomb-Associated Non-Coding RNAs.
MA611222 - JP 2018138019-A/183148: Polycomb-Associated Non-Coding RNAs.
MA611226 - JP 2018138019-A/183152: Polycomb-Associated Non-Coding RNAs.
MA611227 - JP 2018138019-A/183153: Polycomb-Associated Non-Coding RNAs.
MA611233 - JP 2018138019-A/183159: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_mPRPathway - How Progesterone Initiates the Oocyte Maturation

Reactome (by CSHL, EBI, and GO)

Protein Q13526 (Reactome details) participates in the following event(s):

R-HSA-936380 Interaction of PIN1 with p-IRF3
R-HSA-8877692 PIN1 binds phosphorylated PIP4K2B
R-HSA-3215251 TP53INP1 and HIPK2 bind TP53
R-HSA-6799409 HIPK2 phosphorylates TP53
R-HSA-936440 Negative regulators of DDX58/IFIH1 signaling
R-HSA-6811555 PI5P Regulates TP53 Acetylation
R-HSA-1169408 ISG15 antiviral mechanism
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-168928 DDX58/IFIH1-mediated induction of interferon-alpha/beta
R-HSA-6804758 Regulation of TP53 Activity through Acetylation
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-168249 Innate Immune System
R-HSA-913531 Interferon Signaling
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-168256 Immune System
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A8K4V9, ENST00000247970.1, ENST00000247970.2, ENST00000247970.3, ENST00000247970.4, ENST00000247970.5, ENST00000247970.6, ENST00000247970.7, ENST00000247970.8, NM_006221, PIN1_HUMAN, Q13526, Q53X75, uc317ewi.1, uc317ewi.2
UCSC ID: ENST00000247970.9_4
RefSeq Accession: NM_006221.4
Protein: Q13526 (aka PIN1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.