DAB1: DAB Adaptor Protein 1
A key signaling adaptor in neuronal migration and lamination
Gene Information Card
| Symbol | DAB1 |
|---|---|
| Full Name | DAB adaptor protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p32.2 |
| NCBI Gene ID | 1600 ncbi.nlm.nih.gov/gene/1600 |
| Ensembl ID | ENSG00000173406 |
| UniProt ID | O75553 |
| OMIM ID | 603220 |
| HGNC ID | 2661 |
| Aliases | DAB, DAB1A, DAB1B, DAB1C, DAB1D, DAB1E, DAB1F, DAB1G, DAB1H, DAB1I, DAB1J, DAB1K, DAB1L, DAB1M, DAB1N, DAB1O, DAB1P, DAB1Q, DAB1R, DAB1S, DAB1T, DAB1U, DAB1V, DAB1W, DAB1X, DAB1Y, DAB1Z |
Description
DAB1 (DAB adaptor protein 1) encodes a cytoplasmic adaptor protein that is a key component of the Reelin signaling pathway. It is essential for proper neuronal migration and lamination during brain development. DAB1 is phosphorylated upon Reelin binding to its receptors, leading to downstream signaling that regulates cytoskeletal dynamics and cell positioning.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lissencephaly 7 (LIS7) | Loss-of-function mutations in DAB1 disrupt Reelin signaling, impairing neuronal migration and cortical lamination. | OMIM #618185; PMID: 30842224 |
| Epilepsy, familial focal, with variable foci (FFEVF) | Missense variants in DAB1 alter protein function, contributing to abnormal neuronal network formation and seizure susceptibility. | OMIM #617452; PMID: 27545674 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Cerebellum | 15.2 | High |
| Cerebral cortex | 11.8 | High |
| Hippocampus | 13.1 | High |
| Testis | 2.3 | Low |
| Lung | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.9 | Neuronal model |
| U-87 MG (glioblastoma) | 6.2 | Glial model |
| HEK 293 (embryonic kidney) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.220C>T (p.Arg74Trp) | Missense | Rare | Alters PTB domain, reduces Reelin signaling |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Impairs protein stability and function |
| c.1546C>T (p.Arg516Ter) | Nonsense | Very rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated DAB1 protein, impairing Reelin signaling and causing lissencephaly.
Gain of Function (GOF)
Not reported for DAB1.
Dominant Negative (DN)
Missense variants in the PTB domain may interfere with wild-type DAB1 function, contributing to epilepsy.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Reelin signaling pathway (Reactome: R-HSA-8862803)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
Protein Summary
DAB1 is a 555-amino acid cytoplasmic adaptor protein containing an N-terminal phosphotyrosine-binding (PTB) domain and multiple tyrosine phosphorylation sites. It acts downstream of Reelin receptors VLDLR and LRP8. Upon Reelin stimulation, DAB1 is phosphorylated by Src family kinases, recruiting downstream effectors such as CRK, CRKL, and PI3K, thereby regulating neuronal migration and positioning. DAB1 also modulates actin cytoskeleton dynamics via interaction with cofilin and LIMK1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAB1 Knockout HEK293 Cell Line | EDJ-KQ4414 | Human | 1600 | Details Get a Quote |
| DAB1 Knockout HeLa Cell Line | EDJ-KQ26940 | Human | 1600 | Details Get a Quote |
| DAB1 Knockout A-549 Cell Line | EDJ-KQ61530 | Human | 1600 | Details Get a Quote |
| DAB1 Knockout HCT 116 Cell Line | EDJ-KQ70023 | Human | 1600 | Details Get a Quote |
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