STAP1: Signal Transducing Adaptor Family Member 1
A key adaptor protein in immune signaling and B-cell development
Gene Information Card
| Symbol | STAP1 |
|---|---|
| Full Name | Signal Transducing Adaptor Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q13.2 |
| NCBI Gene ID | 26228 ncbi.nlm.nih.gov/gene/26228 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q9ULZ2 |
| OMIM ID | 609246 |
| HGNC ID | 11324 |
| Aliases | BRDG1, STAP-1, BRDG, STAP1 |
Description
STAP1 (Signal Transducing Adaptor Family Member 1) encodes a cytoplasmic adaptor protein that plays a role in signal transduction from receptor tyrosine kinases, particularly in immune cells. It is involved in B-cell receptor signaling and T-cell activation, linking upstream signals to downstream effectors such as MAP kinases. STAP1 is expressed predominantly in hematopoietic tissues and is implicated in immune regulation and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyper-IgM syndrome type 1 | STAP1 mutations may impair B-cell class switch recombination, leading to defective antibody production. | ClinVar |
| Chronic lymphocytic leukemia (CLL) | Altered STAP1 expression may contribute to B-cell survival and proliferation. | COSMIC |
| Breast cancer | STAP1 overexpression has been observed in some breast cancer subtypes, potentially affecting tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 8.9 | Medium |
| Peripheral blood leukocytes | 7.3 | Low |
| Thymus | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (B-cell lymphoma) | 15.3 | High expression |
| Jurkat (T-cell leukemia) | 11.8 | Moderate expression |
| K562 (chronic myelogenous leukemia) | 5.2 | Low expression |
| HEK293 (embryonic kidney) | 1.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.427C>T (p.Arg143Trp) | Missense | <0.1% | ClinVar: Uncertain significance |
| c.538G>A (p.Glu180Lys) | Missense | <0.1% | ClinVar: Likely benign |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | ClinVar: Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in STAP1 are rare and may impair adaptor protein function, potentially affecting B-cell signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported in STAP1.
Dominant Negative (DN)
No dominant-negative mutations have been described for STAP1.
View complete mutation data：
Gene Ontology (GO)
| • signal transduction (GO:0007165) | • SH3/SH2 adaptor activity (GO:0005070) |
| • cytoplasm (GO:0005737) | • plasma membrane (GO:0005886) |
| • B cell receptor signaling pathway (GO:0042100) |
Pathways
• B cell receptor signaling pathway (Reactome: R-HSA-983705)
• Fc epsilon receptor (FCERI) signaling (Reactome: R-HSA-2454202)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006925)
Protein Summary
STAP1 is a 394-amino acid adaptor protein containing an N-terminal pleckstrin homology (PH) domain and a C-terminal Src homology 2 (SH2) domain. It localizes to the cytoplasm and plasma membrane, where it interacts with phosphorylated tyrosine kinases and mediates downstream signaling cascades. STAP1 is critical for B-cell development and immune responses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| STAP1 Knockout HEK293 Cell Line | EDJ-KQ8467 | Human | 26228 | Details Get a Quote |
| STAP1 Knockout HeLa Cell Line | EDJ-KQ55900 | Human | 26228 | Details Get a Quote |
| STAP1 Knockout A-549 Cell Line | EDJ-KQ64391 | Human | 26228 | Details Get a Quote |
| STAP1 Knockout HCT 116 Cell Line | EDJ-KQ72842 | Human | 26228 | Details Get a Quote |
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