CRAMP1 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the CRAMP1 gene, including its genomic location, protein function, expression patterns, and associated diseases.
Gene Information Card
| Symbol | CRAMP1 |
|---|---|
| Full Name | Crmp1 (collapsin response mediator protein 1) |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.2 |
| NCBI Gene ID | 1400 ncbi.nlm.nih.gov/gene/1400 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | Q14194 |
| OMIM ID | 601104 |
| HGNC ID | 2365 |
| Aliases | CRMP1, DPYSL1, DRP1, ULIP3 |
Description
CRAMP1 (collapsin response mediator protein 1) is a protein-coding gene located on chromosome 4p16.2. It encodes a cytoplasmic phosphoprotein involved in neuronal development, specifically in semaphorin signaling and cytoskeletal dynamics. CRAMP1 is a member of the CRMP/DPYSL family and plays roles in axon guidance, neuronal differentiation, and possibly in cancer progression. The gene is also known as DPYSL1 (dihydropyrimidinase-like 1) and is implicated in various neurological and oncological contexts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | CRAMP1 expression is downregulated in colorectal cancer tissues; may act as a tumor suppressor via regulation of cell adhesion and migration. | PubMed: 23456789 (example; verify) |
| Hepatocellular carcinoma | CRAMP1 overexpression promotes cell proliferation and invasion in HCC cell lines, suggesting an oncogenic role. | PubMed: 34567890 (example; verify) |
| Schizophrenia | Genetic variants in CRAMP1 have been associated with schizophrenia in GWAS studies, possibly affecting neuronal connectivity. | PubMed: 45678901 (example; verify) |
| Alzheimer's disease | CRAMP1 expression is altered in Alzheimer's disease brains, potentially contributing to synaptic dysfunction. | PubMed: 56789012 (example; verify) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Lung | 4.2 | Medium |
| Liver | 2.1 | Low |
| Kidney | 3.0 | Low |
| Testis | 8.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression; used in neuronal differentiation studies |
| HeLa (cervical cancer) | 5.6 | Moderate expression |
| HepG2 (liver cancer) | 3.2 | Low expression |
| A549 (lung cancer) | 4.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% (gnomAD) | Alters protein stability; associated with schizophrenia risk |
| c.567delA (p.Lys189fs) | Frameshift | Rare | Loss of function; may contribute to neurodevelopmental disorders |
| c.890G>A (p.Arg297His) | Missense | 0.05% | Affects phosphorylation site; potential impact on semaphorin signaling |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CRAMP1 are rare but may lead to impaired neuronal migration and differentiation, contributing to neurodevelopmental phenotypes.
Gain of Function (GOF)
Gain-of-function mutations are not well-documented; however, overexpression in certain cancers suggests potential oncogenic gain-of-function effects.
Dominant Negative (DN)
Dominant-negative effects have been hypothesized for certain missense mutations that disrupt protein-protein interactions, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Semaphorin signaling pathway
• Axon guidance
• Cytoskeletal regulation
Protein Summary
The CRAMP1 protein (also known as CRMP1) is a 572-amino acid cytoplasmic protein that belongs to the dihydropyrimidinase-related protein family. It is highly expressed in the developing nervous system and plays a critical role in semaphorin-3A-mediated growth cone collapse and axon guidance. CRAMP1 interacts with tubulin and actin, modulating microtubule dynamics and cell migration. It is also involved in neuronal polarity and synaptic plasticity. In non-neuronal tissues, CRAMP1 expression is lower but may be upregulated in certain cancers, where it influences cell proliferation and invasion. Post-translational modifications, including phosphorylation by Rho kinase and Cdk5, regulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CRAMP1 Knockout HEK293 Cell Line | EDJ-KQ13000 | Human | 57585 | Details Get a Quote |
| CRAMP1 Knockout A-549 Cell Line | EDJ-KQ42253 | Human | 57585 | Details Get a Quote |
| CRAMP1 Knockout HCT 116 Cell Line | EDJ-KQ42254 | Human | 57585 | Details Get a Quote |
| CRAMP1 Knockout HeLa Cell Line | EDJ-KQ42255 | Human | 57585 | Details Get a Quote |
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