From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Ephrin B1 is a
protein that in humans is encoded by the EFNB1
gene .
[5]
[6] 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.
[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 (Human Ephrin-B1) at the
PDBe-KB .
Overview of all the structural information available in the
PDB for
UniProt :
P52795 (Mouse Ephrin-B1) at the
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)