Ephrin A1

EFNA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3HEI, 3MBW, 3CZU
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]
Gene ontology Molecular function • ephrin receptor binding • protein binding • receptor binding Cellular component • membrane • anchored component of plasma membrane • plasma membrane • integral component of plasma membrane • extracellular region • anchored component of membrane • extracellular exosome • intracellular Biological process • regulation of cell adhesion mediated by integrin • ephrin receptor signaling pathway • aortic valve morphogenesis • cell-cell signaling • negative regulation of transcription from RNA polymerase II promoter • regulation of angiogenesis • mitral valve morphogenesis • endocardial cushion to mesenchymal transition involved in heart valve formation • regulation of blood vessel endothelial cell migration • regulation of axonogenesis • activation of MAPK activity • neuron differentiation • notochord formation • positive regulation of peptidyl-tyrosine phosphorylation • substrate adhesion-dependent cell spreading • cell migration • negative regulation of epithelial to mesenchymal transition • negative regulation of dendritic spine morphogenesis • regulation of peptidyl-tyrosine phosphorylation • angiogenesis • negative regulation of thymocyte apoptotic process • MAPK cascade • axon guidance Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1942	13636
Ensembl	ENSG00000169242	ENSMUSG00000027954
UniProt	P20827	P52793
RefSeq (mRNA)	NM_004428 NM_182685	NM_001162425 NM_010107
RefSeq (protein)	NP_004419.2 NP_872626.1	NP_034237.3
Location (UCSC)	Chr 1: 155.13 – 155.13 Mb	Chr 3: 89.27 – 89.28 Mb
PubMed search	[2]	[3]
Wikidata

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

Model organisms have been used in the study of EFNA1 function. A conditional knockout mouse line, called Efna1^{tm1a(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

Further reading