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.

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 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
Displaying Records 1 To 4 Of 4 Records
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