Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 1942
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol EFNA1   Gene   UCSC   Ensembl
Aliases B61, ECKLG, EFL1, EPLG1, LERK-1, LERK1, TNFAIP4
Gene name ephrin A1
Alternate names ephrin-A1, TNF alpha-induced protein 4, eph-related receptor tyrosine kinase ligand 1, immediate early response protein B61, ligand of eph-related kinase 1, tumor necrosis factor, alpha-induced protein 4,
Gene location 1q22 (155127872: 155134909)     Exons: 5     NC_000001.11
Gene summary(Entrez) 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]
OMIM 191164

Protein Summary

Protein general information P20827  

Name: Ephrin A1 (EPH related receptor tyrosine kinase ligand 1) (LERK 1) (Immediate early response protein B61) (Tumor necrosis factor alpha induced protein 4) (TNF alpha induced protein 4) [Cleaved into: Ephrin A1, secreted form]

Length: 205  Mass: 23,787

Tissue specificity: Brain. Down-regulated in primary glioma tissues compared to the normal tissues. The soluble monomeric form is expressed in the glioblastoma multiforme (GBM) and breast cancer cells (at protein level). {ECO

Sequence MEFLWAPLLGLCCSLAAADRHTVFWNSSNPKFRNEDYTIHVQLNDYVDIICPHYEDHSVADAAMEQYILYLVEHE
EYQLCQPQSKDQVRWQCNRPSAKHGPEKLSEKFQRFTPFTLGKEFKEGHSYYYISKPIHQHEDRCLRLKVTVSGK
ITHSPQAHDNPQEKRLAADDPEVRVLHSIGHSAAPRLFPLAWTVLLLPLLLLQTP
Structural information
Protein Domains
Ephrin (19-151)
Interpro:  IPR008972 IPR031328 IPR034252 IPR019765 IPR001799
Prosite:   PS01299 PS51551

Pfam:  
PF00812
CDD:   cd10425

PDB:  
3CZU 3HEI 3MBW
PDBsum:   3CZU 3HEI 3MBW

DIP:  
98
MINT:   1393983
STRING:   ENSP00000357392;
Other Databases GeneCards:  EFNA1;  Malacards:  EFNA1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0000187 activation of MAPK activi
ty
IEA biological_process
GO:0001525 angiogenesis
IBA biological_process
GO:0003180 aortic valve morphogenesi
s
ISS biological_process
GO:0003183 mitral valve morphogenesi
s
ISS biological_process
GO:0003199 endocardial cushion to me
senchymal transition invo
lved in heart valve forma
tion
ISS biological_process
GO:0005102 receptor binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007267 cell-cell signaling
TAS biological_process
GO:0007411 axon guidance
IBA biological_process
GO:0010719 negative regulation of ep
ithelial to mesenchymal t
ransition
ISS biological_process
GO:0014028 notochord formation
IEA biological_process
GO:0016477 cell migration
IDA biological_process
GO:0033628 regulation of cell adhesi
on mediated by integrin
IDA biological_process
GO:0034446 substrate adhesion-depend
ent cell spreading
IDA biological_process
GO:0043535 regulation of blood vesse
l endothelial cell migrat
ion
IEA biological_process
GO:0045765 regulation of angiogenesi
s
IEA biological_process
GO:0046658 anchored component of pla
sma membrane
IBA cellular_component
GO:0046875 ephrin receptor binding
IPI molecular_function
GO:0048013 ephrin receptor signaling
pathway
IDA biological_process
GO:0048013 ephrin receptor signaling
pathway
TAS biological_process
GO:0050730 regulation of peptidyl-ty
rosine phosphorylation
ISS biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IDA biological_process
GO:0050770 regulation of axonogenesi
s
IEA biological_process
GO:0061002 negative regulation of de
ndritic spine morphogenes
is
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0000187 activation of MAPK activi
ty
IEA biological_process
GO:0001525 angiogenesis
IBA biological_process
GO:0001525 angiogenesis
IEA biological_process
GO:0003180 aortic valve morphogenesi
s
IEA biological_process
GO:0003180 aortic valve morphogenesi
s
ISS biological_process
GO:0003183 mitral valve morphogenesi
s
IEA biological_process
GO:0003183 mitral valve morphogenesi
s
ISS biological_process
GO:0003199 endocardial cushion to me
senchymal transition invo
lved in heart valve forma
tion
IEA biological_process
GO:0003199 endocardial cushion to me
senchymal transition invo
lved in heart valve forma
tion
ISS biological_process
GO:0005102 receptor binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007267 cell-cell signaling
TAS biological_process
GO:0007411 axon guidance
IBA biological_process
GO:0010719 negative regulation of ep
ithelial to mesenchymal t
ransition
IEA biological_process
GO:0010719 negative regulation of ep
ithelial to mesenchymal t
ransition
ISS biological_process
GO:0014028 notochord formation
IEA biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016477 cell migration
IDA biological_process
GO:0030182 neuron differentiation
IEA biological_process
GO:0031225 anchored component of mem
brane
IEA cellular_component
GO:0033628 regulation of cell adhesi
on mediated by integrin
IDA biological_process
GO:0034446 substrate adhesion-depend
ent cell spreading
IDA biological_process
GO:0043535 regulation of blood vesse
l endothelial cell migrat
ion
IEA biological_process
GO:0045765 regulation of angiogenesi
s
IEA biological_process
GO:0046658 anchored component of pla
sma membrane
IEA cellular_component
GO:0046658 anchored component of pla
sma membrane
IBA cellular_component
GO:0046875 ephrin receptor binding
IPI molecular_function
GO:0046875 ephrin receptor binding
TAS molecular_function
GO:0048013 ephrin receptor signaling
pathway
IEA biological_process
GO:0048013 ephrin receptor signaling
pathway
IDA biological_process
GO:0048013 ephrin receptor signaling
pathway
TAS biological_process
GO:0050730 regulation of peptidyl-ty
rosine phosphorylation
IEA biological_process
GO:0050730 regulation of peptidyl-ty
rosine phosphorylation
ISS biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IDA biological_process
GO:0050770 regulation of axonogenesi
s
IEA biological_process
GO:0061002 negative regulation of de
ndritic spine morphogenes
is
IEA biological_process
GO:0061002 negative regulation of de
ndritic spine morphogenes
is
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
ISS biological_process
GO:0001525 angiogenesis
IBA biological_process
GO:0003180 aortic valve morphogenesi
s
ISS biological_process
GO:0003183 mitral valve morphogenesi
s
ISS biological_process
GO:0003199 endocardial cushion to me
senchymal transition invo
lved in heart valve forma
tion
ISS biological_process
GO:0005102 receptor binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005886 plasma membrane
TAS cellular_component
GO:0005887 integral component of pla
sma membrane
TAS cellular_component
GO:0007267 cell-cell signaling
TAS biological_process
GO:0007411 axon guidance
IBA biological_process
GO:0010719 negative regulation of ep
ithelial to mesenchymal t
ransition
ISS biological_process
GO:0016477 cell migration
IDA biological_process
GO:0033628 regulation of cell adhesi
on mediated by integrin
IDA biological_process
GO:0034446 substrate adhesion-depend
ent cell spreading
IDA biological_process
GO:0046658 anchored component of pla
sma membrane
IBA cellular_component
GO:0046875 ephrin receptor binding
IPI molecular_function
GO:0046875 ephrin receptor binding
TAS molecular_function
GO:0048013 ephrin receptor signaling
pathway
IDA biological_process
GO:0048013 ephrin receptor signaling
pathway
TAS biological_process
GO:0050730 regulation of peptidyl-ty
rosine phosphorylation
ISS biological_process
GO:0050731 positive regulation of pe
ptidyl-tyrosine phosphory
lation
IDA biological_process
GO:0061002 negative regulation of de
ndritic spine morphogenes
is
ISS biological_process
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa04151  PI3K-Akt signaling pathway
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa04360  Axon guidance

Diseases

Associated diseases References
Endometriosis PMID: 26148093
Implantation failure PMID: 12810542
Female infertility INFBASE12810542
Implantation defects INFBASE12810542
Endometriosis INFBASE12810542

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12810542 Endometrio
sis


IL-15
proline-rich protein
B61
Dickkopf-1
glycodelin
N-acetylglucosamine-6-O-sulfotransferase
G0S2 protein
purine nucleoside phosphorylase
semaphorin E
neuronal olfactomedin-related endoplasmic reticulum localized protein mRNA
Sam68-like phospho
Show abstract