CRMP1: Collapsin Response Mediator Protein 1
A key regulator of neuronal development and axon guidance, implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | CRMP1 |
|---|---|
| Full Name | Collapsin Response Mediator Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 1400 ncbi.nlm.nih.gov/gene/1400 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | Q14194 |
| OMIM ID | 602462 |
| HGNC ID | 2365 |
| Aliases | DPYSL1, DRP-1, UNC-33-like, C22orf3 |
Description
CRMP1 (Collapsin Response Mediator Protein 1) encodes a member of the collapsin response mediator protein family. This protein is involved in semaphorin signaling, axon guidance, neuronal differentiation, and cytoskeletal dynamics. It is highly expressed in the developing and adult nervous system and has been implicated in neurodevelopmental disorders, neurodegenerative diseases, and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | CRMP1 variants may disrupt axon guidance and neuronal migration | ClinVar, OMIM |
| Schizophrenia | Altered CRMP1 expression and splicing in brain tissue | NCBI Gene, PubMed |
| Alzheimer's disease | CRMP1 hyperphosphorylation and aggregation in neurofibrillary tangles | UniProt, PubMed |
| Lung cancer | CRMP1 overexpression associated with poor prognosis and metastasis | COSMIC, PubMed |
| Colorectal cancer | CRMP1 downregulation linked to tumor progression | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 45.2 | High |
| Cerebral cortex | 52.1 | High |
| Cerebellum | 38.7 | High |
| Spinal cord | 30.5 | Medium |
| Testis | 12.3 | Low |
| Lung | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.4 | Neuronal model |
| U-87 MG (glioblastoma) | 55.1 | Brain cancer |
| A549 (lung carcinoma) | 18.3 | Lung cancer |
| HeLa (cervical carcinoma) | 9.7 | Low expression |
| HEK293 (embryonic kidney) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Unknown functional effect |
| c.1672C>T (p.Arg558Cys) | Missense | Rare | Reported in neurodevelopmental disorder |
| c.1234_1235insA (p.Thr412Asnfs*3) | Frameshift | Rare | Loss of function |
| c.789G>T (p.Gln263His) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to cause loss of CRMP1 function, potentially impairing axon guidance.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Semaphorin signaling pathway (Reactome: R-HSA-373755)
• Axon guidance (KEGG: hsa04360)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
CRMP1 is a 572-amino acid cytoplasmic protein that belongs to the collapsin response mediator protein family. It functions as a signal transducer for semaphorin 3A, mediating growth cone collapse and axon guidance. The protein interacts with tubulin and actin cytoskeleton, regulating microtubule dynamics and cell migration. CRMP1 is also involved in neuronal polarity, synaptic plasticity, and is a substrate for various kinases including GSK3β and CDK5. Phosphorylation of CRMP1 is implicated in Alzheimer's disease pathology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRMP1 Knockout HEK293 Cell Line | EDJ-KQ4347 | Human | 1400 | Details Get a Quote |
| CRMP1 Knockout A-549 Cell Line | EDJ-KQ26851 | Human | 1400 | Details Get a Quote |
| CRMP1 Knockout HeLa Cell Line | EDJ-KQ26852 | Human | 1400 | Details Get a Quote |
| CRMP1 Knockout HCT 116 Cell Line | EDJ-KQ69946 | Human | 1400 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
