Ephrin B1

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]

EFNB1
Identifiers
AliasesEFNB1, CFND, CFNS, EFB1, EFL3, EPLG2, Elk-L, LERK2, ephrin B1
External IDsOMIM: 300035 MGI: 102708 HomoloGene: 3263 GeneCards: EFNB1
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq13.1Start68,829,021 bp[1]
End68,842,160 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

1947

13641

Ensembl

ENSG00000090776

ENSMUSG00000031217

UniProt

P98172

P52795

RefSeq (mRNA)

NM_004429

NM_010110

RefSeq (protein)

NP_004420

NP_034240

Location (UCSC)Chr X: 68.83 – 68.84 MbChr X: 99.14 – 99.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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
  1. GRCh38: Ensembl release 89: ENSG00000090776 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031217 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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.
  7. "Entrez Gene: EFNB1 ephrin-B1".
  8. 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.
  9. 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.
  10. 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.
  11. 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
  • 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.
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.