PRRG1 Gene - Proline Rich and Gla Domain 1
A vitamin K-dependent protein with roles in cell signaling and potential implications in cancer and neurological disorders.
Gene Information Card
| Symbol | PRRG1 |
|---|---|
| Full Name | Proline Rich and Gla Domain 1 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 5638 ncbi.nlm.nih.gov/gene/5638 |
| Ensembl ID | ENSG00000102003 |
| UniProt ID | O14668 |
| OMIM ID | 300935 |
| HGNC ID | 9369 |
| Aliases | PRRG1, PRRG1A, PRRG1B, TMG1 |
Description
PRRG1 (Proline Rich and Gla Domain 1) is a protein-coding gene located on the X chromosome. It encodes a vitamin K-dependent protein containing a gamma-carboxyglutamic acid (Gla) domain and a proline-rich region. The protein is involved in cell-cell adhesion, signal transduction, and may play a role in neuronal development and cancer progression. PRRG1 is expressed in various tissues, including brain, heart, and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | PRRG1 mutations may alter cell adhesion and signaling pathways, contributing to tumorigenesis. | COSMIC database reports somatic mutations in PRRG1 across multiple cancer types. |
| Neurological disorders | PRRG1 expression in brain suggests involvement in neuronal function; variants may be associated with neurodevelopmental conditions. | ClinVar lists PRRG1 variants with uncertain significance in neurological phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Skeletal Muscle | 6.7 | Low |
| Kidney | 4.2 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Moderate expression |
| SH-SY5Y | 10.2 | Neuronal cell line |
| HeLa | 5.8 | Low expression |
| MCF7 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67His) | Missense | 0.01% | Alters Gla domain; functional impact unknown |
| c.350C>T (p.Pro117Leu) | Missense | 0.005% | Located in proline-rich region; may affect protein interactions |
| c.500_501insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.500_501insA) likely result in truncated, non-functional protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • gamma-carboxyglutamic acid binding | • calcium ion binding |
| • cell adhesion | • signal transduction |
| • extracellular region |
Pathways
• Vitamin K-dependent protein activation
• Cell adhesion molecules (CAMs)
Protein Summary
The PRRG1 protein (UniProt O14668) is a 198-amino acid transmembrane protein with an N-terminal Gla domain that binds calcium ions and a C-terminal proline-rich region. It is post-translationally modified by gamma-carboxylation, dependent on vitamin K. The protein localizes to the cell membrane and is involved in cell-cell interactions and signaling. Its exact biological functions are still under investigation, but it is implicated in neuronal development and cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRRG1 Knockout HEK293 Cell Line | EDJ-KQ5550 | Human | 5638 | Details Get a Quote |
| PRRG1 Knockout A-549 Cell Line | EDJ-KQ28813 | Human | 5638 | Details Get a Quote |
| PRRG1 Knockout HCT 116 Cell Line | EDJ-KQ28814 | Human | 5638 | Details Get a Quote |
| PRRG1 Knockout HeLa Cell Line | EDJ-KQ28815 | Human | 5638 | Details Get a Quote |
