HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CRMP1
collapsin response mediator protein 1
Chromosome 4 · 4p16.2
NCBI Gene: 1400Ensembl: ENSG00000072832.15HGNC: HGNC:2365UniProt: B3KT07
87PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingcytosolnegative regulation of neuron projection developmentmidbodyneurodegenerative diseasepituitary gland diseaseacute tonsillitisNeurodevelopmental disorder
✦AI Summary

CRMP1 (collapsin response mediator protein 1) is a cytoplasmic protein essential for neuronal development and axon guidance. Mechanistically, CRMP1 functions downstream of semaphorin 3A (SEMA3A) signaling to promote filamin A dissociation from F-actin, enabling actin cytoskeleton rearrangement and growth cone collapse 1. CRMP1 also couples with sodium channel Nav1.7 to mediate SEMA3A-induced retrograde axonal transport 2. Beyond development, CRMP1 regulates cell migration and proliferation, functioning as an invasion suppressor in medulloblastoma 3. Clinically, CRMP1 dysfunction is implicated in multiple neurological and psychiatric conditions. Heterozygous de novo variants in CRMP1 cause a neurodevelopmental disorder characterized by muscular hypotonia, intellectual disability, and autism spectrum disorder through disrupted protein oligomerization 4. In amyotrophic lateral sclerosis (ALS), elevated phosphorylation of CRMP1 at Ser522 contributes to motor neuron degeneration; blocking this phosphorylation ameliorates motor function and preserves neuromuscular junctions in ALS models 5. CRMP1 is also associated with schizophrenia, showing increased insoluble protein accumulation in patient brains and genetic association with anhedonia 6. Recent evidence links CRMP1 to bipolar disorder pathogenesis 7 and identifies it as a genetic modifier of Ellis-van Creveld syndrome severity 8. Upregulating developmentally downregulated CRMP1 promotes axon regeneration and neuronal survival after CNS injury 9.

Sources cited
1
CRMP1 is necessary for semaphorin 3A signaling and axon guidance by promoting filamin A dissociation from F-actin
PMID: 25358863
2
CRMP1 couples with Nav1.7 sodium channel to mediate semaphorin 3A-induced retrograde axonal transport
PMID: 28254884
3
CRMP1 inhibits medulloblastoma proliferation, migration, and invasion, functioning as an invasion suppressor
PMID: 26009886
4
Heterozygous de novo CRMP1 variants cause neurodevelopmental disorder with muscular hypotonia, intellectual disability, and autism through disrupted oligomerization
PMID: 36511780
5
CRMP1 phosphorylation at Ser522 contributes to ALS pathology; blocking this phosphorylation ameliorates motor function and preserves motor neurons
PMID: 35523582
6
CRMP1 shows increased insoluble protein accumulation in schizophrenia brains and genetic association with anhedonia traits
PMID: 22798627
7
CRMP1 is identified as a bipolar disorder-associated gene through multiomics analysis
PMID: 39107272
8
CRMP1 is identified as a genetic modifier of Ellis-van Creveld syndrome severity
PMID: 39669252
9
Overexpressing developmentally downregulated CRMP1 promotes axon regeneration and retinal ganglion cell survival after optic nerve injury
PMID: 37059258
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.34Weak
pituitary gland diseaseOpen Targets
0.25Weak
acute tonsillitisOpen Targets
0.25Weak
Neurodevelopmental disorderOpen Targets
0.22Weak
Intellectual disabilityOpen Targets
0.19Weak
COVID-19Open Targets
0.14Weak
severe acute respiratory syndromeOpen Targets
0.12Weak
neoplasmOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
Huntington diseaseOpen Targets
0.11Weak
Alzheimer diseaseOpen Targets
0.10Weak
lung cancerOpen Targets
0.10Weak
ovarian cancerOpen Targets
0.10Weak
SepsisOpen Targets
0.10Suggestive
esophageal squamous cell carcinomaOpen Targets
0.10Suggestive
cancerOpen Targets
0.09Suggestive
amyotrophic lateral sclerosisOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.09Suggestive
Pathogenic Variants1
NM_001014809.3(CRMP1):c.1755del (p.Lys586fs)Likely pathogenic
See cases
☆☆☆☆2024→ Residue 586
View on ClinVar ↗
Related Genes
UMPSProtein interaction100%DPYDProtein interaction100%PLXNA4Protein interaction100%PLXNA1Protein interaction100%NRP1Protein interaction100%GNEProtein interaction91%
Tissue Expression6 tissues
Brain
100%
Ovary
17%
Heart
4%
Lung
3%
Liver
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CRMP1UMPSDPYDPLXNA4PLXNA1NRP1GNE
PROTEIN STRUCTURE
Preparing viewer…
PDB4B3Z · 3.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.44Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.30 [0.21–0.44]
RankingsWhere CRMP1 stands among ~20K protein-coding genes
  • #5,468of 20,598
    Most Researched87
  • #4,933of 5,498
    Most Pathogenic Variants1
  • #2,410of 17,882
    Most Constrained (LOEUF)0.44 · top quartile
Genes detectedCRMP1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Experimental gene expression of developmentally downregulated Crmp1, Crmp4, and Crmp5 promotes axon regeneration and retinal ganglion cell survival after optic nerve injury.
PMID: 37059258
Brain Res · 2023
1.00
2
Monoallelic
PMID: 36511780
Elife · 2022
0.90
3
CRMP1 Inhibits Proliferation of Medulloblastoma and Is Regulated by HMGA1.
PMID: 26009886
PLoS One · 2015
0.80
4
Inhibition of Crmp1 Phosphorylation at Ser522 Ameliorates Motor Function and Neuronal Pathology in Amyotrophic Lateral Sclerosis Model Mice.
PMID: 35523582
eNeuro · 2022
0.70
5
Establishing an objective clinical spectrum, genotype-phenotype correlations, and
PMID: 39669252
Genet Med Open · 2023
0.60