Homo sapiens Protein: EFNB1
Summary
InnateDB Protein IDBP-74052.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EFNB1
Protein Name ephrin-B1
Synonyms CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2; LERK2;
Species Homo sapiens
Ensembl Protein ENSP00000204961
InnateDB Gene IDBG-74050 (EFNB1)
Protein Structure
UniProt Annotation
Function Binds to the receptor tyrosine kinases EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity). {ECO:0000250}.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. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds to the receptor tyrosine kinases EPHB3 (preferred), EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons (By similarity). {ECO:0000250}.
Subcellular Localization Membrane; Single-pass type I membrane protein.
Disease Associations 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:0000269PubMed:15124102, ECO:0000269PubMed:15166289, ECO:0000269PubMed:15959873}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Heart, placenta, lung, liver, skeletal muscle, kidney, pancreas.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 25 [view]
Protein-Protein 25 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0046875 ephrin receptor binding
Biological Process
GO:0001755 neural crest cell migration
GO:0007155 cell adhesion
GO:0007267 cell-cell signaling
GO:0007411 axon guidance
GO:0009880 embryonic pattern specification
GO:0042102 positive regulation of T cell proliferation
GO:0048013 ephrin receptor signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0045121 membrane raft
GO:0045202 synapse
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001799 Ephrin
IPR008972 Cupredoxin
PFAM PF00812
PRINTS PR01347
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P98172
PhosphoSite PhosphoSite-P98172
TrEMBL
UniProt Splice Variant
Entrez Gene 1947
UniGene Hs.624936
RefSeq NP_004420
HUGO HGNC:3226
OMIM 300035
CCDS CCDS14391
HPRD 02072
IMGT
EMBL AL136092 BC016649 BC052979 CH471132 L37361 U09303 U09304
GenPept AAA52369 AAA53093 AAB41127 AAH16649 AAH52979 CAB86409 EAX05370 EAX05371