Protein-coding gene in the species Homo sapiens
Ephrin B1 is a protein that in humans is encoded by the EFNB1 gene .[ 5] [ 6] ephrin family. The encoded protein is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases . It may play a role in cell adhesion and function in the development or maintenance of the nervous system.[ 7]
Clinical significance Mutations in this protein are responsible for most cases of craniofrontonasal syndrome .[ 8] [ 9] [ 10]
Interactions EFNB1 has been shown to interact with SDCBP .[ 11]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000090776 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031217 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Fletcher FA, Huebner K, Shaffer LG, Fairweather ND, Monaco AP, Muller U, Druck T, Simoneaux DK, Chelly J, Belmont JW, et al. (Jul 1995). "Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase Elk to a 200-kilobasepair region in human chromosome Xq12". Genomics . 25 (1): 334–5. doi :10.1016/0888-7543(95)80156-G . PMID 7774950 . ^ Shotelersuk V, Siriwan P, Ausavarat S (Mar 2006). "A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome". Cleft Palate Craniofac J . 43 (2): 152–4. doi :10.1597/05-014.1 . PMID 16526919 . S2CID 10737616 . ^ "Entrez Gene: EFNB1 ephrin-B1" .^ Wieland I, Weidner C, Ciccone R, et al. (December 2007). "Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome". Clin. Genet . 72 (6): 506–16. doi :10.1111/j.1399-0004.2007.00905.x . PMID 17941886 . S2CID 33823266 . ^ Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO (Jun 2004). "Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome" . Proc Natl Acad Sci U S A . 101 (23): 8652–7. Bibcode :2004PNAS..101.8652T . doi :10.1073/pnas.0402819101 PMC 423250 PMID 15166289 . ^ Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P (Jun 2004). "Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome" . Am J Hum Genet . 74 (6): 1209–15. doi :10.1086/421532 . PMC 1182084 PMID 15124102 . ^ Lin, D; Gish G D; Songyang Z; Pawson T (Feb 1999). "The carboxyl terminus of B class ephrins constitutes a PDZ domain binding motif" . J. Biol. Chem . 274 (6): 3726–33. doi :10.1074/jbc.274.6.3726 ISSN 0021-9258 . PMID 9920925 .
Further reading
Flanagan JG, Vanderhaeghen P (1998). "The ephrins and Eph receptors in neural development". Annu. Rev. Neurosci . 21 : 309–45. doi :10.1146/annurev.neuro.21.1.309 . PMID 9530499 . S2CID 1278600 . Zhou R (1998). "The Eph family receptors and ligands". Pharmacol. Ther . 77 (3): 151–81. doi :10.1016/S0163-7258(97)00112-5 . PMID 9576626 . Holder N, Klein R (1999). "Eph receptors and ephrins: effectors of morphogenesis". Development . 126 (10): 2033–44. doi :10.1242/dev.126.10.2033 . PMID 10207129 . Wilkinson DG (2000). Eph receptors and ephrins: regulators of guidance and assembly . International Review of Cytology. Vol. 196. pp. 177–244. doi :10.1016/S0074-7696(00)96005-4 . ISBN 9780123646002 . PMID 10730216 . Xu Q, Mellitzer G, Wilkinson DG (2001). "Roles of Eph receptors and ephrins in segmental patterning" . Philos. Trans. R. Soc. Lond. B Biol. Sci . 355 (1399): 993–1002. doi :10.1098/rstb.2000.0635 . PMC 1692797 PMID 11128993 . Wilkinson DG (2001). "Multiple roles of EPH receptors and ephrins in neural development". Nat. Rev. Neurosci . 2 (3): 155–64. doi :10.1038/35058515 . PMID 11256076 . S2CID 205014301 . Davis S, Gale NW, Aldrich TH, et al. (1994). "Ligands for EPH-related receptor tyrosine kinases that require membrane attachment or clustering for activity". Science . 266 (5186): 816–9. Bibcode :1994Sci...266..816D . doi :10.1126/science.7973638 . PMID 7973638 . Beckmann MP, Cerretti DP, Baum P, et al. (1994). "Molecular characterization of a family of ligands for eph-related tyrosine kinase receptors" . EMBO J . 13 (16): 3757–62. doi :10.1002/j.1460-2075.1994.tb06685.x . PMC 395287 PMID 8070404 . Cerretti DP, Lyman SD, Kozlosky CJ, et al. (1997). "The genes encoding the eph-related receptor tyrosine kinase ligands LERK-1 (EPLG1, Epl1), LERK-3 (EPLG3, Epl3), and LERK-4 (EPLG4, Epl4) are clustered on human chromosome 1 and mouse chromosome 3" . Genomics . 33 (2): 277–82. doi :10.1006/geno.1996.0192 . PMID 8660976 . Gale NW, Holland SJ, Valenzuela DM, et al. (1996). "Eph receptors and ligands comprise two major specificity subclasses and are reciprocally compartmentalized during embryogenesis" . Neuron . 17 (1): 9–19. doi :10.1016/S0896-6273(00)80276-7 PMID 8755474 . Böhme B, VandenBos T, Cerretti DP, et al. (1996). "Cell-cell adhesion mediated by binding of membrane-anchored ligand LERK-2 to the EPH-related receptor human embryonal kinase 2 promotes tyrosine kinase activity" . J. Biol. Chem . 271 (40): 24747–52. doi :10.1074/jbc.271.40.24747 PMID 8798744 . Holland SJ, Gale NW, Mbamalu G, et al. (1996). "Bidirectional signalling through the EPH-family receptor Nuk and its transmembrane ligands". Nature . 383 (6602): 722–5. Bibcode :1996Natur.383..722H . doi :10.1038/383722a0 . hdl :1807/9444 PMID 8878483 . S2CID 4349898 . Ephnomenclaturecommittee (1997). "Unified nomenclature for Eph family receptors and their ligands, the ephrins. Eph Nomenclature Committee" . Cell . 90 (3): 403–4. doi :10.1016/S0092-8674(00)80500-0 PMID 9267020 . Feldman GJ, Ward DE, Lajeunie-Renier E, et al. (1998). "A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22" . Hum. Mol. Genet . 6 (11): 1937–41. doi :10.1093/hmg/6.11.1937 PMID 9302274 . Torres R, Firestein BL, Dong H, et al. (1999). "PDZ proteins bind, cluster, and synaptically colocalize with Eph receptors and their ephrin ligands" . Neuron . 21 (6): 1453–63. doi :10.1016/S0896-6273(00)80663-7 PMID 9883737 . Lin D, Gish GD, Songyang Z, Pawson T (1999). "The carboxyl terminus of B class ephrins constitutes a PDZ domain binding motif" . J. Biol. Chem . 274 (6): 3726–33. doi :10.1074/jbc.274.6.3726 PMID 9920925 . Brückner K, Pablo Labrador J, Scheiffele P, et al. (1999). "EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains" . Neuron . 22 (3): 511–24. doi :10.1016/S0896-6273(00)80706-0 PMID 10197531 .
External links Overview of all the structural information available in the PDB for UniProt : P98172 PDBe-KB .
Overview of all the structural information available in the PDB for UniProt : P52795 PDBe-KB .
Angiopoietin CNTF EGF (ErbB)
FGF
FGFR1 FGFR2
Agonists: Ersofermin FGF (1 , 2 (bFGF) , 3 , 4 , 5 , 6 , 7 (KGF ), 8 , 9 , 10 (KGF2) , 17 , 18 , 22 )Palifermin Repifermin Selpercatinib Sprifermin Trafermin FGFR3 FGFR4 Unsorted
HGF (c-Met) IGF
LNGF (p75NTR ) PDGF RET (GFL)
SCF (c-Kit) TGFβ Trk
TrkA
Negative allosteric modulators: VM-902A TrkB
Agonists: 3,7-DHF 3,7,8,2'-THF 4'-DMA-7,8-DHF 7,3'-DHF 7,8-DHF 7,8,2'-THF 7,8,3'-THF Amitriptyline BDNF BNN-20 Deoxygedunin Deprenyl Diosmetin DMAQ-B1 HIOC LM22A-4 N-Acetylserotonin NT-3 NT-4 Norwogonin (5,7,8-THF) R7 R13 TDP6 TrkC
VEGF Others
Additional growth factors: Adrenomedullin Colony-stimulating factors (see here instead)Connective tissue growth factor (CTGF) Ephrins (A1 , A2 , A3 , A4 , A5 , B1 , B2 , B3 )Erythropoietin (see here instead)Glucose-6-phosphate isomerase (GPI; PGI, PHI, AMF) Glia maturation factor (GMF) Hepatoma-derived growth factor (HDGF) Interleukins /T-cell growth factors (see here instead)Leukemia inhibitory factor (LIF) Macrophage-stimulating protein (MSP; HLP, HGFLP) Midkine (NEGF2) Migration-stimulating factor (MSF; PRG4) Oncomodulin Pituitary adenylate cyclase-activating peptide (PACAP) Pleiotrophin Renalase Thrombopoietin (see here instead)Wnt signaling proteins Additional growth factor receptor modulators: Cerebrolysin (neurotrophin mixture)
