Ephrin B1 Explained

Ephrin B1 is a protein that in humans is encoded by the EFNB1 gene.^{[1] [2]} It is a member of the 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.^[3]

Clinical significance

Mutations in this protein are responsible for most cases of craniofrontonasal syndrome.^{[4] [5] [6]}

Interactions

EFNB1 has been shown to interact with SDCBP.^[7]

Further reading

• Flanagan JG, Vanderhaeghen P . 1278600 . The ephrins and Eph receptors in neural development. . Annu. Rev. Neurosci. . 21 . 309–45 . 1998 . 9530499 . 10.1146/annurev.neuro.21.1.309 .
• Zhou R . The Eph family receptors and ligands. . Pharmacol. Ther. . 77 . 3 . 151–81 . 1998 . 9576626 . 10.1016/S0163-7258(97)00112-5 .
• Holder N, Klein R . Eph receptors and ephrins: effectors of morphogenesis. . Development . 126 . 10 . 2033–44 . 1999 . 10.1242/dev.126.10.2033 . 10207129 .
• Book: Wilkinson DG . Eph receptors and ephrins: regulators of guidance and assembly. . Int. Rev. Cytol. . 196 . 177–244 . 2000 . 10730216 . 10.1016/S0074-7696(00)96005-4 . International Review of Cytology . 9780123646002 .
• Xu Q, Mellitzer G, Wilkinson DG . Roles of Eph receptors and ephrins in segmental patterning. . Philos. Trans. R. Soc. Lond. B Biol. Sci. . 355 . 1399 . 993–1002 . 2001 . 11128993 . 10.1098/rstb.2000.0635 . 1692797 .
• Wilkinson DG . Multiple roles of EPH receptors and ephrins in neural development. . Nat. Rev. Neurosci. . 2 . 3 . 155–64 . 2001 . 11256076 . 10.1038/35058515 . 205014301 .
• Davis S, Gale NW, Aldrich TH . Ligands for EPH-related receptor tyrosine kinases that require membrane attachment or clustering for activity. . Science . 266 . 5186 . 816–9 . 1994 . 7973638 . 10.1126/science.7973638 . etal. 1994Sci...266..816D .
• Beckmann MP, Cerretti DP, Baum P . Molecular characterization of a family of ligands for eph-related tyrosine kinase receptors. . EMBO J. . 13 . 16 . 3757–62 . 1994 . 8070404 . 10.1002/j.1460-2075.1994.tb06685.x. 395287 . etal.
• Cerretti DP, Lyman SD, Kozlosky CJ . 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 . 1997 . 8660976 . 10.1006/geno.1996.0192 . etal.
• Gale NW, Holland SJ, Valenzuela DM . Eph receptors and ligands comprise two major specificity subclasses and are reciprocally compartmentalized during embryogenesis. . Neuron . 17 . 1 . 9–19 . 1996 . 8755474 . 10.1016/S0896-6273(00)80276-7 . etal. free .
• Böhme B, VandenBos T, Cerretti DP . 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 . 1996 . 8798744 . 10.1074/jbc.271.40.24747 . etal. free.
• Holland SJ, Gale NW, Mbamalu G . Bidirectional signalling through the EPH-family receptor Nuk and its transmembrane ligands. . Nature . 383 . 6602 . 722–5 . 1996 . 8878483 . 10.1038/383722a0 . etal. 1996Natur.383..722H . 1807/9444 . 4349898 . free .
• Ephnomenclaturecommittee. Unified nomenclature for Eph family receptors and their ligands, the ephrins. Eph Nomenclature Committee. . Cell . 90 . 3 . 403–4 . 1997 . 9267020 . 10.1016/S0092-8674(00)80500-0 . free .
• Feldman GJ, Ward DE, Lajeunie-Renier E . A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. . Hum. Mol. Genet. . 6 . 11 . 1937–41 . 1998 . 9302274 . 10.1093/hmg/6.11.1937 . etal. free .
• Torres R, Firestein BL, Dong H . PDZ proteins bind, cluster, and synaptically colocalize with Eph receptors and their ephrin ligands. . Neuron . 21 . 6 . 1453–63 . 1999 . 9883737 . 10.1016/S0896-6273(00)80663-7 . etal. free .
• Lin D, Gish GD, Songyang Z, Pawson T . The carboxyl terminus of B class ephrins constitutes a PDZ domain binding motif. . J. Biol. Chem. . 274 . 6 . 3726–33 . 1999 . 9920925 . 10.1074/jbc.274.6.3726 . free.
• Brückner K, Pablo Labrador J, Scheiffele P . EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains. . Neuron . 22 . 3 . 511–24 . 1999 . 10197531 . 10.1016/S0896-6273(00)80706-0 . etal. free .

Notes and References

1. Fletcher FA, Huebner K, Shaffer LG, Fairweather ND, Monaco AP, Muller U, Druck T, Simoneaux DK, Chelly J, Belmont JW . 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 . Jul 1995 . 7774950 . 10.1016/0888-7543(95)80156-G . etal.
2. Shotelersuk V, Siriwan P, Ausavarat S . A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome . Cleft Palate Craniofac J . 43 . 2 . 152–4 . Mar 2006 . 16526919 . 10.1597/05-014.1 . 10737616 .
3. Web site: Entrez Gene: EFNB1 ephrin-B1.
4. Wieland I, Weidner C, Ciccone R . Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome . Clin. Genet. . 72 . 6 . 506–16 . December 2007 . 17941886 . 10.1111/j.1399-0004.2007.00905.x . 33823266 . etal.
5. Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO . 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 . Jun 2004 . 15166289 . 423250 . 10.1073/pnas.0402819101 . 2004PNAS..101.8652T . free .
6. Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P . Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome . Am J Hum Genet . 74 . 6 . 1209–15 . Jun 2004 . 15124102 . 1182084 . 10.1086/421532.
7. 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 . 0021-9258. 9920925 . 10.1074/jbc.274.6.3726 . free.