EHBP1L1 Gene - EH Domain Binding Protein 1 Like 1
Comprehensive genomic and functional annotation of EHBP1L1, a gene implicated in vesicular trafficking and endocytosis.
Gene Information Card
| Symbol | EHBP1L1 |
|---|---|
| Full Name | EH Domain Binding Protein 1 Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 105378 ncbi.nlm.nih.gov/gene/105378 |
| Ensembl ID | ENSG00000187764 |
| UniProt ID | Q8N3D4 |
| OMIM ID | 618349 |
| HGNC ID | 26879 |
| Aliases | FLJ22662, MGC16384 |
Description
EHBP1L1 (EH Domain Binding Protein 1 Like 1) is a protein-coding gene located on chromosome 11q13.1. It encodes a protein involved in vesicular trafficking and endocytosis, likely functioning as a scaffold or regulator of membrane dynamics. The gene is conserved in mammals and expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 5.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature stop, likely loss of function |
| c.567G>A (p.Val189Ile) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant p.Arg412* likely leads to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • endocytosis (GO:0006897) | • vesicle-mediated transport (GO:0016192) |
| • protein binding (GO:0005515) |
Pathways
• Vesicle-mediated transport (Reactome: R-HSA-5653656)
• Endocytosis (KEGG: hsa04144)
Protein Summary
The EHBP1L1 protein contains an EH (Eps15 homology) domain and is predicted to bind to EH domain-containing proteins, playing a role in endocytic trafficking. It localizes to the cytoplasm and may interact with components of the clathrin-mediated endocytosis machinery.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EHBP1L1 Knockout HEK293 Cell Line | EDJ-KQ11009 | Human | 254102 | 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 |
