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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. [provided by RefSeq, Jul 2008]
EFNA1 (Ephrin A1) is a Protein Coding gene. Diseases associated with EFNA1 include Cortical Senile Cataract and Gastric Cancer. Among its related pathways are Guidance Cues and Growth Cone Motility and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and ephrin receptor binding. An important paralog of this gene is EFNA5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | TAS | 8660976 |
GO:0005515 | protein binding | IPI | 19525919 |
GO:0046875 | ephrin receptor binding | IPI | 15777695 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0031225 | anchored component of membrane | IEA | -- |
GO:0046658 | anchored component of plasma membrane | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | EPHA forward signaling |
EphrinA-EphR Signaling
.30
|
|
2 | EPH-Ephrin signaling |
Cell adhesion Ephrins signaling
.35
|
|
3 | Ras signaling pathway | ||
4 | Developmental Biology |
.51
|
|
5 | Axon guidance |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
GO:0001525 | angiogenesis | IEA | -- |
GO:0001934 | positive regulation of protein phosphorylation | IGI | 24217950 |
GO:0003180 | aortic valve morphogenesis | ISS | -- |
GO:0003183 | mitral valve morphogenesis | ISS | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EFNA1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EFNA1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EFNA1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Efna1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Efna1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EFNA1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EFNA1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | efna1 30 |
|
||
Str.196 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | elfa-A-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | efna1a 30 31 |
|
OneToMany | |
efna1b 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs4745 | - | p.Asp159Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
cortical senile cataract |
|
|
gastric cancer |
|
|
breast cancer |
|
|
glioblastoma multiforme |
|
|