Ephrin A1

From Wikipedia, the free encyclopedia
  (Redirected from EFNA1)
Jump to: navigation, search
EFNA1
Protein EFNA1 PDB 3CZU.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases EFNA1, B61, ECKLG, EFL1, EPLG1, LERK-1, LERK1, TNFAIP4, Ephrin A1
External IDs MGI: 103236 HomoloGene: 3262 GeneCards: EFNA1
Genetically Related Diseases
obesity[1]
RNA expression pattern
PBB GE EFNA1 202023 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004428
NM_182685

NM_001162425
NM_010107

RefSeq (protein)

NP_004419
NP_872626

NP_034237.3
NP_001155897
NP_034237

Location (UCSC) Chr 1: 155.13 – 155.13 Mb Chr 3: 89.27 – 89.28 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Ephrin A1 is a protein that in humans is encoded by the EFNA1 gene.[4][5][6]

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.[6]

Model organisms[edit]

Model organisms have been used in the study of EFNA1 function. A conditional knockout mouse line, called Efna1tm1a(EUCOMM)Wtsi[13][14] 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.[15][16][17]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[11][18] 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. [11]

References[edit]

  1. ^ "Diseases that are genetically associated with EFNA1 view/edit references on wikidata". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Holzman LB, Marks RM, Dixit VM (Nov 1990). "A novel immediate-early response gene of endothelium is induced by cytokines and encodes a secreted protein". Molecular and Cellular Biology. 10 (11): 5830–8. PMC 361366Freely accessible. PMID 2233719. 
  5. ^ Cerretti DP, Lyman SD, Kozlosky CJ, Copeland NG, Gilbert DJ, Jenkins NA, Valentine V, Kirstein MN, Shapiro DN, Morris SW (Apr 1996). "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. 
  6. ^ a b "Entrez Gene: EFNA1 ephrin-A1". 
  7. ^ "Radiography data for Efna1". Wellcome Trust Sanger Institute. 
  8. ^ "Clinical chemistry data for Efna1". Wellcome Trust Sanger Institute. 
  9. ^ "Salmonella infection data for Efna1". Wellcome Trust Sanger Institute. 
  10. ^ "Citrobacter infection data for Efna1". Wellcome Trust Sanger Institute. 
  11. ^ 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. 
  12. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  13. ^ "International Knockout Mouse Consortium". 
  14. ^ "Mouse Genome Informatics". 
  15. ^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410Freely accessible. PMID 21677750. 
  16. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  17. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  18. ^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837Freely accessible. PMID 21722353. 

Further reading[edit]