DPYSL4
Dihydropyrimidinase Like 4
Gene Information Card
| Symbol | DPYSL4 |
|---|---|
| Full Name | Dihydropyrimidinase Like 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.11 |
| NCBI Gene ID | 10570 ncbi.nlm.nih.gov/gene/10570 |
| Ensembl ID | ENSG00000138185 |
| UniProt ID | O14531 |
| OMIM ID | 608383 |
| HGNC ID | 3017 |
| Aliases | CRMP3, DRP-4, ULIP4 |
Description
DPYSL4 (Dihydropyrimidinase Like 4), also known as CRMP3, encodes a member of the collapsin response mediator protein family. This protein is involved in neuronal development, axon guidance, and cytoskeletal dynamics. It is highly expressed in the brain and has been implicated in neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered DPYSL4 expression may disrupt axon guidance and neuronal migration | PMID: 21926972 |
| Colorectal cancer | DPYSL4 downregulation associated with poor prognosis and metastasis | PMID: 25636874 |
| Lung cancer | DPYSL4 hypermethylation and reduced expression linked to tumor progression | PMID: 23542377 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.4 | High |
| Cerebral cortex | 32.1 | High |
| Cerebellum | 25.6 | High |
| Testis | 3.2 | Low |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Moderate expression |
| U-87 MG (glioblastoma) | 12.8 | Moderate expression |
| HeLa (cervical carcinoma) | 2.1 | Low expression |
| A549 (lung carcinoma) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown functional impact |
| c.1523G>A (p.Arg508Gln) | Missense | <0.01% | Reported in neurodevelopmental cases |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce protein stability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • axon guidance | • neuron projection development |
| • cytoskeleton organization | • signal transduction |
Pathways
• Semaphorin signaling
• Axon guidance
• Neurotrophin signaling
Protein Summary
DPYSL4 is a 62 kDa cytoplasmic protein that belongs to the dihydropyrimidinase-related protein family. It interacts with tubulin and microtubules to regulate cytoskeletal dynamics during neuronal differentiation and axon outgrowth. Phosphorylation by kinases such as Rho-associated kinase modulates its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DPYSL4 Knockout HEK293 Cell Line | EDJ-KQ7094 | Human | 10570 | Details Get a Quote |
| DPYSL4 Knockout A-549 Cell Line | EDJ-KQ31939 | Human | 10570 | Details Get a Quote |
| DPYSL4 Knockout HCT 116 Cell Line | EDJ-KQ31940 | Human | 10570 | Details Get a Quote |
| DPYSL4 Knockout HeLa Cell Line | EDJ-KQ55433 | Human | 10570 | Details Get a Quote |
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