PPP1R18: Protein Phosphatase 1 Regulatory Subunit 18
A regulator of protein phosphatase 1 involved in cytoskeletal organization and immune signaling
Gene Information Card
| Symbol | PPP1R18 |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 55107 ncbi.nlm.nih.gov/gene/55107 |
| Ensembl ID | ENSG00000141480 |
| UniProt ID | Q6P5R6 |
| OMIM ID | 617125 |
| HGNC ID | 28910 |
| Aliases | FLJ11273, KIAA1949, PHI-1, PPP1R18 |
Description
PPP1R18 encodes a regulatory subunit of protein phosphatase 1 (PP1). The protein is involved in cytoskeletal organization, cell adhesion, and immune signaling. It is expressed in multiple tissues and may play a role in cancer and immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect PP1-mediated signaling pathways | COSMIC database reports mutations in multiple cancer types |
| Immune system disorders | Potential role in T-cell signaling and cytoskeletal remodeling | Inferred from protein function and expression in immune cells |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Lung | 6.7 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 15.2 | Leukemia cell line |
| HeLa | 8.9 | Cervical cancer cell line |
| A549 | 7.4 | Lung cancer cell line |
| HEK293 | 5.6 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.02% (COSMIC) | Unknown functional effect |
| c.567_568insA | Frameshift | <0.01% (COSMIC) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of PP1 regulatory activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase 1 binding | • cytoskeleton organization |
| • cell adhesion | • signal transduction |
Pathways
• PP1 signaling
• Cytoskeletal regulation by Rho GTPases
Protein Summary
PPP1R18 is a 1007-amino acid protein that binds to protein phosphatase 1 (PP1) and targets it to specific substrates. It contains a PH domain and multiple phosphorylation sites, suggesting roles in signal transduction and cytoskeletal dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R18 Knockout HEK293 Cell Line | EDJ-KQ14860 | Human | 170954 | Details Get a Quote |
| PPP1R18 Knockout A-549 Cell Line | EDJ-KQ45307 | Human | 170954 | Details Get a Quote |
| PPP1R18 Knockout HCT 116 Cell Line | EDJ-KQ45308 | Human | 170954 | Details Get a Quote |
| PPP1R18 Knockout HeLa Cell Line | EDJ-KQ45309 | Human | 170954 | Details Get a Quote |
| PPP1R18 Knockout HAP1 Cell Line | EDC08135 | Human | 170954 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
