DAPP1: Dual Adaptor of Phosphotyrosine and 3-Phosphoinositides
A key adaptor protein in B-cell receptor signaling and phosphoinositide-mediated membrane recruitment
Gene Information Card
| Symbol | DAPP1 |
|---|---|
| Full Name | Dual Adaptor of Phosphotyrosine and 3-Phosphoinositides |
| Gene Type | Protein coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 27071 ncbi.nlm.nih.gov/gene/27071 |
| Ensembl ID | ENSG00000164190 |
| UniProt ID | Q9UN19 |
| OMIM ID | 605768 |
| HGNC ID | 23422 |
| Aliases | BCAP, B-cell adaptor for PI3K |
Description
DAPP1 (dual adaptor of phosphotyrosine and 3-phosphoinositides), also known as BCAP, encodes a protein that contains an N-terminal pleckstrin homology (PH) domain and a C-terminal Src homology 2 (SH2) domain. It functions as an adaptor in B-cell receptor (BCR) signaling, linking the BCR to phosphatidylinositol 3-kinase (PI3K) activation. The PH domain binds phosphatidylinositol (3,4,5)-trisphosphate (PIP3), recruiting the protein to the plasma membrane, while the SH2 domain interacts with phosphorylated tyrosine residues on other signaling proteins. DAPP1 is involved in B-cell development, activation, and survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| B-cell lymphoma | DAPP1 overexpression may enhance PI3K/AKT signaling, promoting B-cell survival and proliferation. | COSMIC; PMID: 21502544 |
| Chronic lymphocytic leukemia (CLL) | Altered DAPP1 expression contributes to BCR signaling dysregulation. | COSMIC; PMID: 23292937 |
| Immunodeficiency (potential) | Loss-of-function mutations in DAPP1 could impair B-cell activation and antibody production. | Inferred from mouse models; PMID: 14691459 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 11.8 | Medium |
| Bone marrow | 9.2 | Medium |
| Whole blood | 6.1 | Low |
| Lung | 3.4 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 14.3 | B-cell line; high expression |
| Daudi (Burkitt lymphoma) | 13.1 | B-cell line |
| K562 (leukemia) | 2.5 | Low expression |
| HEK293 (embryonic kidney) | 1.8 | Non-hematopoietic; low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.1% | Located in SH2 domain; may affect phosphotyrosine binding |
| c.1243G>A (p.Glu415Lys) | Missense | <0.1% | C-terminal region; functional impact unknown |
| c.784_785insA (p.Ile262Asnfs*5) | Frameshift | <0.1% | Predicted loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Ile262Asnfs*5) are predicted to cause loss of function by truncating the protein, likely impairing BCR signaling.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in DAPP1.
Dominant Negative (DN)
No dominant-negative mutations described for DAPP1.
View complete mutation data:
Gene Ontology (GO)
Pathways
• B cell receptor signaling pathway (Reactome: R-HSA-983705)
• PI3K/AKT signaling (Reactome: R-HSA-1257604)
• Fcgamma receptor (FCGR) dependent phagocytosis (Reactome: R-HSA-2029480)
Protein Summary
DAPP1 is a 280-amino acid adaptor protein with a PH domain at the N-terminus and an SH2 domain at the C-terminus. The PH domain specifically binds PIP3, enabling membrane recruitment upon PI3K activation. The SH2 domain binds phosphotyrosine motifs, facilitating interactions with upstream kinases such as SYK and BTK. DAPP1 is essential for optimal BCR-mediated PI3K activation, B-cell proliferation, and survival. It is predominantly expressed in hematopoietic tissues, especially B cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DAPP1 Knockout HEK293 Cell Line | EDJ-KQ8667 | Human | 27071 | Details Get a Quote |
| DAPP1 Knockout HeLa Cell Line | EDJ-KQ55994 | Human | 27071 | Details Get a Quote |
| DAPP1 Knockout A-549 Cell Line | EDJ-KQ64479 | Human | 27071 | Details Get a Quote |
| DAPP1 Knockout HCT 116 Cell Line | EDJ-KQ72937 | Human | 27071 | Details Get a Quote |
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