PIN1: Peptidylprolyl Cis/Trans Isomerase, NIMA-Interacting 1
A key regulator of protein conformation and cell cycle progression, implicated in cancer and neurodegeneration.
Gene Information Card
| Symbol | PIN1 |
|---|---|
| Full Name | Peptidylprolyl Cis/Trans Isomerase, NIMA-Interacting 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 5300 ncbi.nlm.nih.gov/gene/5300 |
| Ensembl ID | ENSG00000127445 |
| UniProt ID | Q13526 |
| OMIM ID | 601052 |
| HGNC ID | 8988 |
| Aliases | DOD, UBL5 |
Description
The PIN1 gene encodes a peptidylprolyl cis/trans isomerase that specifically isomerizes phosphorylated Ser/Thr-Pro bonds. This isomerization induces conformational changes in target proteins, regulating their activity, stability, and subcellular localization. PIN1 is essential for cell cycle progression and is implicated in various cancers and neurodegenerative disorders, including Alzheimer's disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, prostate, lung, etc.) | PIN1 overexpression or aberrant activity promotes oncogenic signaling by stabilizing and activating oncoproteins (e.g., cyclin D1, c-Jun, β-catenin) and inactivating tumor suppressors. | Multiple studies (e.g., PMID: 12524533, PMID: 17016423) |
| Alzheimer's disease | PIN1 dysfunction leads to tau hyperphosphorylation and neurofibrillary tangle formation; loss of PIN1 activity contributes to amyloid precursor protein processing and Aβ accumulation. | PMID: 10591208, PMID: 17016423 |
| Asthma | PIN1 regulates airway inflammation by modulating NF-κB and AP-1 signaling in immune cells. | PMID: 22121019 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.2 | High |
| Lymph node | 18.5 | Medium |
| Brain (cerebellum) | 15.3 | Medium |
| Heart | 12.1 | Medium |
| Liver | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical carcinoma) | 22.5 | High expression |
| MCF7 (breast cancer) | 19.8 | High expression |
| HEK293 (embryonic kidney) | 15.2 | Medium expression |
| HepG2 (liver cancer) | 12.7 | Medium expression |
| K562 (leukemia) | 9.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.145C>T (p.Arg49Cys) | Missense | <0.1% | Reduced isomerase activity; associated with altered substrate binding. |
| c.202G>A (p.Glu68Lys) | Missense | <0.1% | Potential loss of function; reported in cancer samples. |
| c.331G>A (p.Val111Met) | Missense | <0.1% | Unknown functional effect; rare variant. |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg49Cys) reduce catalytic activity, impairing PIN1's ability to isomerize phospho-Ser/Thr-Pro motifs, leading to dysregulation of cell cycle and signaling.
Gain of Function (GOF)
Overexpression or amplification of wild-type PIN1 is common in cancers, acting as a gain-of-function by enhancing oncoprotein stability and promoting proliferation.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; however, mutant forms with reduced activity may compete with wild-type PIN1 for substrate binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cell cycle (KEGG: hsa04110)
• p53 signaling pathway (KEGG: hsa04115)
• Wnt signaling pathway (KEGG: hsa04310)
• Alzheimer disease (KEGG: hsa05010)
• Prostate cancer (KEGG: hsa05215)
Protein Summary
PIN1 is a 163-amino acid protein (18 kDa) that contains an N-terminal WW domain for phospho-Ser/Thr-Pro recognition and a C-terminal peptidyl-prolyl isomerase (PPIase) domain. It catalyzes the cis/trans isomerization of phosphorylated Ser/Thr-Pro bonds, inducing conformational changes that regulate protein function, stability, and localization. PIN1 is highly conserved and plays a pivotal role in cell cycle control, transcription, and cellular stress responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIN1 Knockout HEK293 Cell Line | EDJ-KQ2140 | Human | 5300 | Details Get a Quote |
| PIN1 Knockout A-549 Cell Line | EDJ-KQ22304 | Human | 5300 | Details Get a Quote |
| PIN1 Knockout HCT 116 Cell Line | EDJ-KQ22305 | Human | 5300 | Details Get a Quote |
| PIN1 Knockout HeLa Cell Line | EDJ-KQ22306 | Human | 5300 | Details Get a Quote |
