Ephrin A1

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Ephrin-A1
Protein EFNA1 PDB 3CZU.png
Rendering based on PDB 3CZU.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols EFNA1 ; B61; ECKLG; EFL1; EPLG1; LERK-1; LERK1; TNFAIP4
External IDs OMIM191164 MGI103236 HomoloGene3262 GeneCards: EFNA1 Gene
RNA expression pattern
PBB GE EFNA1 202023 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1942 13636
Ensembl ENSG00000169242 ENSMUSG00000027954
UniProt P20827 P52793
RefSeq (mRNA) NM_004428 NM_001162425
RefSeq (protein) NP_004419 NP_001155897
Location (UCSC) Chr 1:
155.1 – 155.11 Mb
Chr 3:
89.27 – 89.28 Mb
PubMed search [1] [2]

Ephrin-A1 is a protein that in humans is encoded by the EFNA1 gene.[1][2][3]

This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis.[3]

Model organisms[edit]

Model organisms have been used in the study of EFNA1 function. A conditional knockout mouse line, called Efna1tm1a(EUCOMM)Wtsi[10][11] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[12][13][14]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[8][15] Twenty four tests were carried out on homozygous mutant mice and one significant abnormality was observed: a transformation in vertebral number from lumbar vertebrae to sacral vertebrae. [8]

References[edit]

References[edit]

  1. ^ Holzman LB, Marks RM, Dixit VM (Dec 1990). "A novel immediate-early response gene of endothelium is induced by cytokines and encodes a secreted protein". Mol Cell Biol 10 (11): 5830–8. PMC 361366. PMID 2233719. 
  2. ^ Cerretti DP, Lyman SD, Kozlosky CJ, Copeland NG, Gilbert DJ, Jenkins NA, Valentine V, Kirstein MN, Shapiro DN, Morris SW (Jan 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. 
  3. ^ a b "Entrez Gene: EFNA1 ephrin-A1". 
  4. ^ "Radiography data for Efna1". Wellcome Trust Sanger Institute. 
  5. ^ "Clinical chemistry data for Efna1". Wellcome Trust Sanger Institute. 
  6. ^ "Salmonella infection data for Efna1". Wellcome Trust Sanger Institute. 
  7. ^ "Citrobacter infection data for Efna1". Wellcome Trust Sanger Institute. 
  8. ^ a b c Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. 
  9. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  10. ^ "International Knockout Mouse Consortium". 
  11. ^ "Mouse Genome Informatics". 
  12. ^ Skarnes, W. C.; Rosen, B.; West, A. P.; Koutsourakis, M.; Bushell, W.; Iyer, V.; Mujica, A. O.; Thomas, M.; Harrow, J.; Cox, T.; Jackson, D.; Severin, J.; Biggs, P.; Fu, J.; Nefedov, M.; De Jong, P. J.; Stewart, A. F.; Bradley, A. (2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–342. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.  edit
  13. ^ Dolgin E (2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  14. ^ Collins FS, Rossant J, Wurst W (2007). "A Mouse for All Reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  15. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism.". Genome Biol 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353. 

Further reading[edit]