EFNB1
Function
Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development (PubMed:7973638, PubMed:8070404). Binding to Eph receptors residing on adjacent cells leads to contact-dependent bidirectional signaling into neighboring cells (PubMed:7973638, PubMed:8070404). Shows high affinity for the receptor tyrosine kinase EPHB1/ELK (PubMed:7973638, PubMed:8070404). Can also bind EPHB2 and EPHB3 (PubMed:8070404). Binds to, and induces collapse of, commissural axons/growth cones in vitro (By similarity). May play a role in constraining the orientation of longitudinally projecting axons (By similarity).
Involvement in disease
Craniofrontonasal syndrome
CFNS
X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Inducible phosphorylation of tyrosine residues in the cytoplasmic domain.
Proteolytically processed. The ectodomain is cleaved, probably by a metalloprotease, to produce a membrane-tethered C-terminal fragment. This fragment is then further processed by the gamma-secretase complex to yield a soluble intracellular domain peptide which can translocate to the nucleus. The intracellular domain peptide is highly labile suggesting that it is targeted for degradation by the proteasome.
Sequence Similarities
Belongs to the ephrin family.
Tissue Specificity
Widely expressed (PubMed:7973638, PubMed:8070404). Detected in both neuronal and non-neuronal tissues (PubMed:7973638, PubMed:8070404). Seems to have particularly strong expression in retina, sciatic nerve, heart and spinal cord (PubMed:7973638).
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Membrane raft
- May recruit GRIP1 and GRIP2 to membrane raft domains.
- Ephrin-B1 C-terminal fragment
- Cell membrane
- Single-pass type I membrane protein
- Ephrin-B1 intracellular domain
- Nucleus
- Colocalizes with ZHX2 in the nucleus.
Alternative names
EFL3, EPLG2, LERK2, EFNB1, Ephrin-B1, EFL-3, ELK ligand, EPH-related receptor tyrosine kinase ligand 2, ELK-L, LERK-2