DPYSL5 Gene (Dihydropyrimidinase Like 5)
A key regulator of neuronal development and axonal guidance, implicated in neurodevelopmental disorders.
Gene Information Card
| Symbol | DPYSL5 |
|---|---|
| Full Name | Dihydropyrimidinase Like 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 56896 ncbi.nlm.nih.gov/gene/56896 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | Q9BPU6 |
| OMIM ID | 608383 |
| HGNC ID | 30137 |
| Aliases | CRMP5, CRMP-5, ULIP6, DRP-5 |
Description
DPYSL5 (Dihydropyrimidinase Like 5), also known as CRMP5, is a member of the collapsin response mediator protein (CRMP) family. It is primarily expressed in the developing and adult nervous system, where it plays a critical role in neuronal differentiation, axonal guidance, and cytoskeletal dynamics. DPYSL5 interacts with microtubules and signaling molecules to regulate neurite outgrowth and synaptic plasticity. Mutations in DPYSL5 have been associated with neurodevelopmental disorders, including intellectual disability and epilepsy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability and epilepsy | Missense mutations in DPYSL5 disrupt protein function, impairing neuronal migration and axon guidance. | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in DPYSL5 may contribute to altered synaptic connectivity and neuronal signaling. | ClinVar, literature |
| Epilepsy | Pathogenic variants in DPYSL5 are associated with seizure disorders, likely due to disrupted neuronal network formation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebral cortex | 15.2 | High |
| Cerebellum | 10.8 | High |
| Spinal cord | 8.3 | Medium |
| Testis | 2.1 | Low |
| Heart | 1.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.4 | High expression; used in neuronal differentiation studies |
| U-87 MG (glioblastoma) | 9.7 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.8 | Low expression; not neuronal origin |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.677G>A (p.Arg226Gln) | Missense | Rare | Likely pathogenic; disrupts protein function in neuronal development |
| c.1022C>T (p.Thr341Met) | Missense | Rare | Uncertain significance; reported in neurodevelopmental disorder |
| c.1450G>A (p.Gly484Arg) | Missense | Rare | Likely pathogenic; affects microtubule binding |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg226Gln) reduce protein stability or disrupt interactions with binding partners, impairing neurite outgrowth.
Gain of Function (GOF)
No gain-of-function mutations have been reported for DPYSL5.
Dominant Negative (DN)
Some missense variants may act in a dominant-negative manner by interfering with wild-type CRMP5 function in multimeric complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Semaphorin signaling pathway (Reactome: R-HSA-373755)
• Axon guidance (KEGG: hsa04360)
• CRMP family signaling (Reactome: R-HSA-399956)
Protein Summary
DPYSL5 encodes a 564-amino acid protein (CRMP5) that belongs to the dihydropyrimidinase-like protein family. The protein is highly expressed in the nervous system and localizes to the cytoplasm and growth cones. CRMP5 binds to tubulin and promotes microtubule assembly, facilitating axonal elongation and neuronal migration. It also interacts with Sema3A signaling pathways to mediate growth cone collapse. Post-translational modifications, including phosphorylation by kinases such as GSK3β, regulate its activity. Structural studies show that CRMP5 forms tetramers and is essential for proper brain development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPYSL5 Knockout HEK293 Cell Line | EDJ-KQ2522 | Human | 56896 | Details Get a Quote |
| DPYSL5 Knockout A-549 Cell Line | EDJ-KQ23135 | Human | 56896 | Details Get a Quote |
| DPYSL5 Knockout HCT 116 Cell Line | EDJ-KQ23136 | Human | 56896 | Details Get a Quote |
| DPYSL5 Knockout HeLa Cell Line | EDJ-KQ56761 | Human | 56896 | Details Get a Quote |
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