Ephrin B1

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Ephrin B1 is a protein that in humans is encoded by the EFNB1 gene.{{cite journal | vauthors = Fletcher FA, Huebner K, Shaffer LG, Fairweather ND, Monaco AP, Muller U, Druck T, Simoneaux DK, Chelly J, Belmont JW | title = 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 | journal = Genomics | volume = 25 | issue = 1 | pages = 334–5 |date=Jul 1995 | pmid = 7774950 | doi =10.1016/0888-7543(95)80156-G |display-authors=etal}}{{cite journal | vauthors = Shotelersuk V, Siriwan P, Ausavarat S | title = A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome | journal = Cleft Palate Craniofac J | volume = 43 | issue = 2 | pages = 152–4 |date=Mar 2006 | pmid = 16526919 | doi = 10.1597/05-014.1 | s2cid = 10737616 }} 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.{{cite web | title = Entrez Gene: EFNB1 ephrin-B1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1947}}

Clinical significance

Mutations in this protein are responsible for most cases of craniofrontonasal syndrome.{{cite journal |vauthors=Wieland I, Weidner C, Ciccone R |title=Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome |journal=Clin. Genet. |volume=72 |issue=6 |pages=506–16 |date=December 2007 |pmid=17941886 |doi=10.1111/j.1399-0004.2007.00905.x |s2cid=33823266 |display-authors=etal}}{{cite journal |vauthors=Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO |title=Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome |journal=Proc Natl Acad Sci U S A |volume=101 |issue=23 |pages=8652–7 |date=Jun 2004 |pmid=15166289 |pmc=423250 |doi=10.1073/pnas.0402819101 |bibcode=2004PNAS..101.8652T |doi-access=free }}{{cite journal |vauthors=Wieland I, Jakubiczka S, Muschke P, Cohen M, Thiele H, Gerlach KL, Adams RH, Wieacker P |title=Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome |journal=Am J Hum Genet |volume=74 |issue=6 |pages=1209–15 |date=Jun 2004 |pmid= 15124102 |pmc=1182084 |doi= 10.1086/421532}}

Interactions

EFNB1 has been shown to interact with SDCBP.{{cite journal |last=Lin |first=D |author2=Gish G D |author3=Songyang Z |author4=Pawson T |date=Feb 1999 |title=The carboxyl terminus of B class ephrins constitutes a PDZ domain binding motif |journal=J. Biol. Chem. |volume=274 |issue=6 |pages=3726–33 | issn = 0021-9258| pmid = 9920925 |doi=10.1074/jbc.274.6.3726 |doi-access= free}}

References

{{reflist}}

Further reading

{{refbegin | 2}}

  • {{cite journal | vauthors=Flanagan JG, Vanderhaeghen P |s2cid=1278600 |title=The ephrins and Eph receptors in neural development. |journal=Annu. Rev. Neurosci. |volume=21 |pages= 309–45 |year= 1998 |pmid= 9530499 |doi= 10.1146/annurev.neuro.21.1.309 }}
  • {{cite journal | author=Zhou R |title=The Eph family receptors and ligands. |journal=Pharmacol. Ther. |volume=77 |issue= 3 |pages= 151–81 |year= 1998 |pmid= 9576626 |doi=10.1016/S0163-7258(97)00112-5 }}
  • {{cite journal | vauthors=Holder N, Klein R |title=Eph receptors and ephrins: effectors of morphogenesis. |journal=Development |volume=126 |issue= 10 |pages= 2033–44 |year= 1999 |doi=10.1242/dev.126.10.2033 |pmid= 10207129 }}
  • {{cite book | author=Wilkinson DG |title=Eph receptors and ephrins: regulators of guidance and assembly. |journal=Int. Rev. Cytol. |volume=196 |pages= 177–244 |year= 2000 |pmid= 10730216 |doi=10.1016/S0074-7696(00)96005-4 |series=International Review of Cytology |isbn=9780123646002 }}
  • {{cite journal | vauthors=Xu Q, Mellitzer G, Wilkinson DG |title=Roles of Eph receptors and ephrins in segmental patterning. |journal=Philos. Trans. R. Soc. Lond. B Biol. Sci. |volume=355 |issue= 1399 |pages= 993–1002 |year= 2001 |pmid= 11128993 |doi= 10.1098/rstb.2000.0635 | pmc=1692797 }}
  • {{cite journal | author=Wilkinson DG |title=Multiple roles of EPH receptors and ephrins in neural development. |journal=Nat. Rev. Neurosci. |volume=2 |issue= 3 |pages= 155–64 |year= 2001 |pmid= 11256076 |doi=10.1038/35058515 |s2cid=205014301 }}
  • {{cite journal | vauthors=Davis S, Gale NW, Aldrich TH |title=Ligands for EPH-related receptor tyrosine kinases that require membrane attachment or clustering for activity. |journal=Science |volume=266 |issue= 5186 |pages= 816–9 |year= 1994 |pmid= 7973638 |doi=10.1126/science.7973638 |display-authors=etal|bibcode=1994Sci...266..816D }}
  • {{cite journal | vauthors=Beckmann MP, Cerretti DP, Baum P |title=Molecular characterization of a family of ligands for eph-related tyrosine kinase receptors. |journal=EMBO J. |volume=13 |issue= 16 |pages= 3757–62 |year= 1994 |pmid= 8070404 |doi= 10.1002/j.1460-2075.1994.tb06685.x| pmc=395287 |display-authors=etal}}
  • {{cite journal | vauthors=Cerretti DP, Lyman SD, Kozlosky CJ |title=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. |journal=Genomics |volume=33 |issue= 2 |pages= 277–82 |year= 1997 |pmid= 8660976 |doi= 10.1006/geno.1996.0192 |display-authors=etal|url=https://zenodo.org/record/1229677 }}
  • {{cite journal | vauthors=Gale NW, Holland SJ, Valenzuela DM |title=Eph receptors and ligands comprise two major specificity subclasses and are reciprocally compartmentalized during embryogenesis. |journal=Neuron |volume=17 |issue= 1 |pages= 9–19 |year= 1996 |pmid= 8755474 |doi=10.1016/S0896-6273(00)80276-7 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Böhme B, VandenBos T, Cerretti DP |title=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. |journal=J. Biol. Chem. |volume=271 |issue= 40 |pages= 24747–52 |year= 1996 |pmid= 8798744 |doi=10.1074/jbc.271.40.24747 |display-authors=etal|doi-access= free}}
  • {{cite journal | vauthors=Holland SJ, Gale NW, Mbamalu G |title=Bidirectional signalling through the EPH-family receptor Nuk and its transmembrane ligands. |journal=Nature |volume=383 |issue= 6602 |pages= 722–5 |year= 1996 |pmid= 8878483 |doi= 10.1038/383722a0 |display-authors=etal|bibcode=1996Natur.383..722H |hdl=1807/9444 |s2cid=4349898 |hdl-access=free }}
  • {{cite journal | author= Ephnomenclaturecommittee|title=Unified nomenclature for Eph family receptors and their ligands, the ephrins. Eph Nomenclature Committee. |journal=Cell |volume=90 |issue= 3 |pages= 403–4 |year= 1997 |pmid= 9267020 |doi=10.1016/S0092-8674(00)80500-0 |doi-access= free }}
  • {{cite journal | vauthors=Feldman GJ, Ward DE, Lajeunie-Renier E |title=A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22. |journal=Hum. Mol. Genet. |volume=6 |issue= 11 |pages= 1937–41 |year= 1998 |pmid= 9302274 |doi=10.1093/hmg/6.11.1937 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Torres R, Firestein BL, Dong H |title=PDZ proteins bind, cluster, and synaptically colocalize with Eph receptors and their ephrin ligands. |journal=Neuron |volume=21 |issue= 6 |pages= 1453–63 |year= 1999 |pmid= 9883737 |doi=10.1016/S0896-6273(00)80663-7 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Lin D, Gish GD, Songyang Z, Pawson T |title=The carboxyl terminus of B class ephrins constitutes a PDZ domain binding motif. |journal=J. Biol. Chem. |volume=274 |issue= 6 |pages= 3726–33 |year= 1999 |pmid= 9920925 |doi=10.1074/jbc.274.6.3726 |doi-access= free}}
  • {{cite journal | vauthors=Brückner K, Pablo Labrador J, Scheiffele P |title=EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains. |journal=Neuron |volume=22 |issue= 3 |pages= 511–24 |year= 1999 |pmid= 10197531 |doi=10.1016/S0896-6273(00)80706-0 |display-authors=etal|doi-access=free }}

{{refend}}