EFNB1
entrez
1947
canonical
uniprot
P98172
canonical
ensembl
ENSG00000090776
resolver
ensp
ENSP00000204961
resolver
enst
ENST00000204961
resolver
genesymbol
EFNB1
resolver
genesymbol_syn
EFL3
resolver
genesymbol_syn
EPLG2
resolver
genesymbol_syn
LERK2
resolver
hgnc
HGNC:3226
resolver
uniprot
D3DVU0
resolver
uniprot_entry
EFNB1_HUMAN
resolver
uniprot_sec
D3DVU0
resolver
amino_acid_sequence
MARPGQRWLGKWLVAMVVWALCRLATPLAKNLEPVSWSSLNPKFLSGKGLVIYPKIGDKLDIICPRAEAGRPYEYYKLYLVRPEQAAACSTVLDPNVLVTCNRPEQEIRFTIKFQEFSPNYMGLEFKKHHDYYITSTSNGSLEGLENREGGVCRTRTMKIIMKVGQDPNAVTPEQLTTSRPSKEADNTVKMATQAPGSRGSLGDSDGKHETVNQEEKSGPGASGGSSGDPDGFFNSKVALFAAVGAGCVIFLLIIIFLTVLLLKLRKRHRKHTQQRAAALSLSTLASPKGGSGTAGTEPSDIIIPLRTTENNYCPHYEKVSGDYGHPVYIVQEMPPQSPANIYYKV
uniprot
proteins
disease_involvement
DISEASE: Craniofrontonasal syndrome (CFNS) [MIM:304110]: 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. {ECO:0000269|PubMed:15124102, ECO:0000269|PubMed:15166289, ECO:0000269|PubMed:15959873}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:P52795, ECO:0000269|PubMed:7973638, ECO:0000269|PubMed:8070404}.
uniprot
proteins
mass_dalton
38007
uniprot
proteins
mutagenesis
MUTAGEN 260..273; /note="Missing: The intracellular domain peptide fails to localize to the nucleus."; /evidence="ECO:0000269|PubMed:16930449"; MUTAGEN 344..346; /note="Missing: No effect on gamma-secretase mediated proteolysis of the C-terminal fragment."; /evidence="ECO:0000269|PubMed:16930449
uniprot
proteins
post_translational_modification
PTM: Inducible phosphorylation of tyrosine residues in the cytoplasmic domain. {ECO:0000269|PubMed:7973638}.; PTM: 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. {ECO:0000269|PubMed:16930449}.
uniprot
proteins
protein_family
Ephrin family
uniprot
proteins
pubmed
10197531
uniprot
proteins
pubmed
15124102
uniprot
proteins
pubmed
15166289
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
15959873
uniprot
proteins
pubmed
16930449
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21429299
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
7973638
uniprot
proteins
pubmed
8070404
uniprot
proteins
sequence_length
346
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10197531, ECO:0000269|PubMed:7973638}; Single-pass type I membrane protein {ECO:0000255}. Membrane raft {ECO:0000269|PubMed:10197531}. Note=May recruit GRIP1 and GRIP2 to membrane raft domains. {ECO:0000269|PubMed:10197531}.; SUBCELLULAR LOCATION: [Ephrin-B1 C-terminal fragment]: Cell membrane {ECO:0000269|PubMed:16930449}; Single-pass type I membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: [Ephrin-B1 intracellular domain]: Nucleus {ECO:0000269|PubMed:16930449}. Note=Colocalizes with ZHX2 in the nucleus. {ECO:0000250|UniProtKB:P52795}.
uniprot
proteins
transmembrane_region
TRANSMEM 238..258; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins