PPP1R27
Protein Phosphatase 1 Regulatory Subunit 27
Gene Information Card
| Symbol | PPP1R27 |
|---|---|
| Full Name | Protein Phosphatase 1 Regulatory Subunit 27 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.31 |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000267280 |
| UniProt ID | A0A0A0MSJ0 |
| OMIM ID | 618543 |
| HGNC ID | 44167 |
| Aliases | C17orf78, FLJ45831 |
Description
PPP1R27 (Protein Phosphatase 1 Regulatory Subunit 27) is a protein-coding gene located on chromosome 17q21.31. It encodes a regulatory subunit of protein phosphatase 1 (PP1), which is involved in various cellular processes including cell cycle regulation, glycogen metabolism, and signal transduction. The gene is expressed in multiple tissues and has been associated with certain cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered PP1 regulation may affect cell cycle control | Limited evidence from expression studies (NCBI Gene) |
| Colorectal cancer | Potential role in PP1-mediated signaling | Limited evidence from expression studies (NCBI Gene) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Lung | 2.8 | Low |
| Liver | 1.5 | Not detected |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Moderate expression |
| HeLa | 3.8 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown functional effect |
| c.100C>T | synonymous | <0.01% | No predicted effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein phosphatase 1 binding | • regulation of phosphatase activity |
| • cytoplasm |
Pathways
• Protein phosphatase 1 regulatory network
• Glycogen metabolism
Protein Summary
PPP1R27 encodes a regulatory subunit of protein phosphatase 1 (PP1). The protein is predicted to localize to the cytoplasm and modulate PP1 activity, influencing cellular processes such as cell cycle progression and metabolism. Limited functional data are available, and its precise role in human disease remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPP1R27 Knockout HEK293 Cell Line | EDJ-KQ7580 | Human | 116729 | Details Get a Quote |
| PPP1R27 Knockout HeLa Cell Line | EDJ-KQ57996 | Human | 116729 | Details Get a Quote |
| PPP1R27 Knockout A-549 Cell Line | EDJ-KQ66484 | Human | 116729 | Details Get a Quote |
| PPP1R27 Knockout HCT 116 Cell Line | EDJ-KQ74906 | Human | 116729 | Details Get a Quote |
