PLXNA1
Plexin A1: A Semaphorin Receptor in Neuronal and Immune Signaling
Gene Information Card
| Symbol | PLXNA1 |
|---|---|
| Full Name | plexin A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 2281 ncbi.nlm.nih.gov/gene/2281 |
| Ensembl ID | ENSG00000114554 |
| UniProt ID | Q9UIW2 |
| OMIM ID | 601055 |
| HGNC ID | 9099 |
| Aliases | PLXN1, NOV, PLEXIN-A1, Semaphorin receptor |
Description
PLXNA1 encodes plexin A1, a transmembrane receptor for class 3 semaphorins (e.g., SEMA3A, SEMA3C). It is involved in axon guidance, neuronal migration, immune cell regulation, and angiogenesis. Plexin A1 forms a complex with neuropilins and mediates signal transduction via the cytoplasmic domain, affecting cytoskeletal dynamics and cell adhesion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | PLXNA1 overexpression promotes tumor invasion and metastasis via SEMA3A signaling | COSMIC, NCBI Gene |
| Breast cancer | Altered PLXNA1 expression correlates with poor prognosis and epithelial-mesenchymal transition | COSMIC, NCBI Gene |
| Neurodevelopmental disorders | Mutations in PLXNA1 disrupt axon guidance, linked to intellectual disability and autism | ClinVar, OMIM |
| Rheumatoid arthritis | PLXNA1 mediates immune cell migration and inflammation in synovial tissue | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Colon | 6.7 | Low |
| Breast | 5.2 | Low |
| Kidney | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 9.8 | Moderate expression |
| A549 | 7.2 | Low expression |
| MCF7 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Alters semaphorin binding affinity |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Loss of function, truncated protein |
| c.890A>G (p.Asn297Ser) | Missense | <0.05% | Reduced cell surface expression |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent plexin A1, impairing semaphorin signaling.
Gain of Function (GOF)
Missense mutations that enhance receptor dimerization or downstream signaling are rare but reported in cancer.
Dominant Negative (DN)
Some missense variants may interfere with wild-type receptor function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • semaphorin receptor activity | • axon guidance |
| • cell migration | • signal transduction |
| • neuropilin binding |
Pathways
• Semaphorin interactions
• Axon guidance
• Signaling by SEMA3A
Protein Summary
Plexin A1 is a 1894-amino acid transmembrane protein with an N-terminal sema domain, PSI domains, and a cytoplasmic GTPase-activating protein (GAP) domain. It binds semaphorins via neuropilin co-receptors, regulating cytoskeletal dynamics in neurons and immune cells. Post-translational modifications include glycosylation and phosphorylation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLXNA1 Knockout HEK293 Cell Line | EDJ-KQ5485 | Human | 5361 | Details Get a Quote |
| PLXNA1 Knockout A-549 Cell Line | EDJ-KQ28708 | Human | 5361 | Details Get a Quote |
| PLXNA1 Knockout HCT 116 Cell Line | EDJ-KQ28709 | Human | 5361 | Details Get a Quote |
| PLXNA1 Knockout HeLa Cell Line | EDJ-KQ28710 | Human | 5361 | Details Get a Quote |
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