EPHA1 Gene - Ephrin Receptor A1
Comprehensive guide to EPHA1: genomic data, expression, mutations, and disease associations
Gene Information Card
| Symbol | EPHA1 |
|---|---|
| Full Name | EPH receptor A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 2041 ncbi.nlm.nih.gov/gene/2041 |
| Ensembl ID | ENSG00000146904 |
| UniProt ID | P21709 |
| OMIM ID | 179610 |
| HGNC ID | 3385 |
| Aliases | EPH, EPHA, EPH receptor A1, ephrin type-A receptor 1 |
Description
EPHA1 (EPH receptor A1) is a protein-coding gene that belongs to the ephrin receptor subfamily of receptor tyrosine kinases. It encodes a transmembrane receptor that binds ephrin-A ligands, mediating cell-cell signaling involved in development, cell migration, and axon guidance. EPHA1 is implicated in various cancers and has been associated with susceptibility to colorectal cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | EPHA1 variants may alter receptor signaling, affecting cell adhesion and proliferation | ClinVar, OMIM |
| Breast cancer | Overexpression or mutation of EPHA1 can promote tumor growth and metastasis | COSMIC, NCBI |
| Prostate cancer | EPHA1 expression changes correlate with disease progression | COSMIC, PubMed |
| Lung cancer | Somatic mutations in EPHA1 identified in non-small cell lung cancer | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Colon | 8.3 | Low |
| Breast | 6.7 | Low |
| Lung | 9.1 | Low |
| Kidney | 15.2 | Medium |
| Liver | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.3 | Embryonic kidney cells |
| MCF7 | 7.2 | Breast cancer cell line |
| A549 | 9.8 | Lung cancer cell line |
| HCT116 | 11.5 | Colorectal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.02% | Alters ligand binding domain |
| c.567C>T (p.Arg189Trp) | Missense | 0.01% | May affect receptor dimerization |
| c.2345_2346insA | Frameshift | <0.01% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | 0.03% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in EPHA1 are predicted to cause loss of receptor tyrosine kinase activity, impairing ephrin signaling.
Gain of Function (GOF)
Missense mutations in the kinase domain may lead to constitutive activation, promoting oncogenic signaling.
Dominant Negative (DN)
Truncated EPHA1 variants lacking the kinase domain can interfere with wild-type receptor function, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ephrin receptor signaling pathway (Reactome: R-HSA-3928662)
• Axon guidance (KEGG: hsa04360)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
Protein Summary
EPHA1 is a 976-amino acid transmembrane receptor tyrosine kinase. It consists of an extracellular ephrin-binding domain, a single transmembrane helix, and an intracellular tyrosine kinase domain. Upon binding ephrin-A ligands, EPHA1 undergoes dimerization and autophosphorylation, initiating downstream signaling cascades that regulate cell shape, adhesion, and motility. The protein is widely expressed in epithelial and neural tissues and plays roles in development and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPHA1 Knockout HEK293 Cell Line | EDJ-KQ4534 | Human | 2041 | Details Get a Quote |
| EPHA10 Knockout HEK293 Cell Line | EDJ-KQ13303 | Human | 284656 | Details Get a Quote |
| EPHA1 Knockout HCT 116 Cell Line | EDJ-KQ27153 | Human | 2041 | Details Get a Quote |
| EPHA1 Knockout HeLa Cell Line | EDJ-KQ27154 | Human | 2041 | Details Get a Quote |
| EPHA10 Knockout HCT 116 Cell Line | EDJ-KQ41522 | Human | 284656 | Details Get a Quote |
| EPHA10 Knockout HeLa Cell Line | EDJ-KQ59485 | Human | 284656 | Details Get a Quote |
| EPHA1 Knockout A-549 Cell Line | EDJ-KQ61640 | Human | 2041 | Details Get a Quote |
| EPHA10 Knockout A-549 Cell Line | EDJ-KQ67952 | Human | 284656 | Details Get a Quote |
