PRIMA1
Proline Rich Membrane Anchor 1
Gene Information Card
| Symbol | PRIMA1 |
|---|---|
| Full Name | Proline Rich Membrane Anchor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 145270 ncbi.nlm.nih.gov/gene/145270 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q86XR5 |
| OMIM ID | 611408 |
| HGNC ID | 26418 |
| Aliases | PRiMA, MGC138499 |
Description
PRIMA1 encodes the proline-rich membrane anchor 1, a protein that anchors acetylcholinesterase (AChE) to the synaptic basal lamina at the neuromuscular junction. It is essential for clustering AChE at cholinergic synapses and maintaining efficient neurotransmission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital myasthenic syndrome 23 (CMS23) | Loss-of-function mutations in PRIMA1 impair AChE anchoring, reducing synaptic AChE activity and causing prolonged acetylcholine action at the neuromuscular junction. | ClinVar, OMIM |
| Myasthenic syndrome, congenital, with acetylcholinesterase deficiency | Defective PRIMA1 leads to absence of AChE at the motor endplate, resulting in repetitive compound muscle action potentials and muscle weakness. | OMIM #616228 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Muscle | 8.3 | Low |
| Spinal cord | 10.1 | Medium |
| Heart | 4.2 | Low |
| Lung | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| C2C12 (myoblast) | 6.5 | Muscle differentiation model |
| HEK293 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.220C>T (p.Arg74*) | Nonsense | Rare | Loss of function; truncated protein |
| c.347G>A (p.Arg116His) | Missense | Rare | Impaired AChE binding |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
Mutation functional classification
Loss of Function (LOF)
Most PRIMA1 mutations are loss-of-function, leading to reduced or absent AChE anchoring at the neuromuscular junction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • cytoplasm (GO:0005737) |
| • synapse (GO:0045202) | • protein binding (GO:0005515) |
| • caveola (GO:0005901) | • integral component of membrane (GO:0016021) |
Pathways
• Acetylcholine degradation at the neuromuscular junction (Reactome: R-HSA-264642)
• Cholinergic synapse (KEGG: hsa04725)
Protein Summary
PRIMA1 is a 153-amino acid transmembrane protein with a proline-rich cytoplasmic domain and a coiled-coil region that mediates interaction with the catalytic subunit of acetylcholinesterase. It anchors AChE tetramers to the synaptic basal lamina via a GPI-like linkage, ensuring rapid hydrolysis of acetylcholine at cholinergic synapses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRIMA1 Knockout HEK293 Cell Line | EDJ-KQ10435 | Human | 145270 | Details Get a Quote |
| PRIMA1 Knockout HCT 116 Cell Line | EDJ-KQ37807 | Human | 145270 | Details Get a Quote |
| PRIMA1 Knockout HeLa Cell Line | EDJ-KQ58519 | Human | 145270 | Details Get a Quote |
| PRIMA1 Knockout A-549 Cell Line | EDJ-KQ67008 | Human | 145270 | Details Get a Quote |
