EHBP1: EH Domain Binding Protein 1
Key regulator of endocytic trafficking and membrane dynamics
Gene Information Card
| Symbol | EHBP1 |
|---|---|
| Full Name | EH Domain Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 23301 ncbi.nlm.nih.gov/gene/23301 |
| Ensembl ID | ENSG00000115594 |
| UniProt ID | Q8N3D4 |
| OMIM ID | 609922 |
| HGNC ID | 29186 |
| Aliases | KIAA0903, EHBP1L1 |
Description
EHBP1 (EH Domain Binding Protein 1) encodes a protein that contains an N-terminal calponin homology (CH) domain and a C-terminal EH domain-binding region. It functions as a scaffold protein involved in endocytic trafficking, particularly in the recycling of receptors and membrane proteins. EHBP1 interacts with EHD proteins and regulates actin cytoskeleton dynamics during vesicle transport.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | EHBP1 variants may influence susceptibility through altered endocytic recycling of growth factor receptors | GWAS studies (PMID: 21743467) |
| Breast cancer | Potential role in tumor progression via modulation of membrane trafficking | Expression studies (COSMIC) |
| Colorectal cancer | Somatic mutations observed in tumor samples | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Prostate | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.3 | Embryonic kidney cells |
| HeLa | 7.1 | Cervical cancer cells |
| MCF7 | 5.9 | Breast cancer cells |
| PC3 | 4.2 | Prostate cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2146G>A (p.Gly716Arg) | Missense | 0.01% | Unknown functional impact |
| c.2875C>T (p.Arg959Trp) | Missense | 0.005% | Reported in COSMIC for colorectal cancer |
| c.1234_1235insA | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to truncate the protein, impairing endocytic trafficking.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the CH domain may disrupt actin binding and exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis (GO:0006897) | • regulation of endocytosis (GO:0030100) |
| • actin binding (GO:0003779) | • actin cytoskeleton organization (GO:0030036) |
| • cytoplasm (GO:0005737) |
Pathways
• Endocytosis (Reactome: R-HSA-199991)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
EHBP1 is a 1227-amino acid protein that localizes to endocytic vesicles and the plasma membrane. It contains a calponin homology domain that binds F-actin and a region that interacts with EHD proteins. Through these interactions, EHBP1 coordinates vesicle budding, movement, and fusion during receptor recycling. Its expression is highest in testis and brain, and alterations have been linked to cancer susceptibility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EHBP1 Knockout HEK293 Cell Line | EDJ-KQ1026 | Human | 23301 | Details Get a Quote |
| EHBP1L1 Knockout HEK293 Cell Line | EDJ-KQ11009 | Human | 254102 | Details Get a Quote |
| EHBP1 Knockout A-549 Cell Line | EDJ-KQ20123 | Human | 23301 | Details Get a Quote |
| EHBP1 Knockout HCT 116 Cell Line | EDJ-KQ20124 | Human | 23301 | Details Get a Quote |
| EHBP1 Knockout HeLa Cell Line | EDJ-KQ20125 | Human | 23301 | Details Get a Quote |
| EHBP1L1 Knockout A-549 Cell Line | EDJ-KQ40143 | Human | 254102 | Details Get a Quote |
| EHBP1L1 Knockout HCT 116 Cell Line | EDJ-KQ40145 | Human | 254102 | Details Get a Quote |
| EHBP1L1 Knockout HeLa Cell Line | EDJ-KQ40146 | Human | 254102 | Details Get a Quote |
