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Ephrin B1

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
EFNB1
Identifiers
Aliases EFNB1 , CFND, CFNS, EFB1, EFL3, EPLG2, Elk-L, LERK2, ephrin B1
External IDsOMIM: 300035; MGI: 102708; HomoloGene: 3263; GeneCards: EFNB1; OMA:EFNB1 - orthologs
Gene location (Human)
X chromosome (human)
Chr. X chromosome (human) [1]
Band Xq13.1Start68,829,021 bp [1]
End68,842,160 bp [1]
Gene location (Mouse)
X chromosome (mouse)
Chr. X chromosome (mouse)[2]
Band X C3|X 43.22 cMStart98,179,736 bp [2]
End98,192,597 bp [2]
RNA expression pattern
Bgee
Human Mouse (ortholog)
  • ventricular zone

  • right lung

  • ganglionic eminence

  • mucosa of transverse colon

  • skin of abdomen

  • skin of leg

  • upper lobe of left lung

  • tibial nerve

  • apex of heart

  • ectocervix
  • ventricular zone

  • Ileal epithelium

  • external carotid artery

  • lumbar spinal ganglion

  • internal carotid artery

  • Rostral migratory stream

  • renal corpuscle

  • lip

  • yolk sac

  • gastrula
More reference expression data
BioGPS
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
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 Mb Chr X: 98.18 – 98.19 Mb
PubMed search[3] [4]
Wikidata

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

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Mutations in this protein are responsible for most cases of craniofrontonasal syndrome.[8] [9] [10]

Interactions

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EFNB1 has been shown to interact with SDCBP.[11]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000090776Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031217Ensembl, 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. S2CID 10737616.
  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. S2CID 33823266.
  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

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[edit ]
  • 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.
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