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Aliases for EFNA1 Gene

Aliases for EFNA1 Gene

  • Ephrin A1 2 3
  • Tumor Necrosis Factor Alpha-Induced Protein 4 3 4
  • Immediate Early Response Protein B61 3 4
  • TNF Alpha-Induced Protein 4 3 4
  • Ephrin-A1 2 5
  • TNFAIP4 3 4
  • LERK-1 3 4
  • EPLG1 3 4
  • LERK1 3 4
  • Tumor Necrosis Factor, Alpha-Induced Protein 4 3
  • Eph-Related Receptor Tyrosine Kinase Ligand 1 3
  • EPH-Related Receptor Tyrosine Kinase Ligand 1 4
  • Ligand Of Eph-Related Kinase 1 3
  • ECKLG 3
  • EFL1 3
  • B61 3

External Ids for EFNA1 Gene

Previous HGNC Symbols for EFNA1 Gene

  • TNFAIP4
  • EPLG1

Previous GeneCards Identifiers for EFNA1 Gene

  • GC01P152980
  • GC01P150840
  • GC01P151875
  • GC01P152317
  • GC01P152318
  • GC01P151913
  • GC01P153367
  • GC01P155099
  • GC01P126462

Summaries for EFNA1 Gene

Entrez Gene Summary for EFNA1 Gene

  • 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]

GeneCards Summary for EFNA1 Gene

EFNA1 (Ephrin A1) is a Protein Coding gene. Diseases associated with EFNA1 include arteriovenous malformation. Among its related pathways are Cellular response to hypoxia and Stabilization and expansion of the E-cadherin adherens junction. GO annotations related to this gene include receptor binding and ephrin receptor binding. An important paralog of this gene is EFNA3.

UniProtKB/Swiss-Prot for EFNA1 Gene

  • Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. Plays an important role in angiogenesis and tumor neovascularization. The recruitment of VAV2, VAV3 and PI3-kinase p85 subunit by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly. Exerts anti-oncogenic effects in tumor cells through activation and down-regulation of EPHA2. Activates EPHA2 by inducing tyrosine phosphorylation which leads to its internalization and degradation. Acts as a negative regulator in the tumorigenesis of gliomas by down-regulating EPHA2 and FAK. Can evoke collapse of embryonic neuronal growth cone and regulates dendritic spine morphogenesis.

Gene Wiki entry for EFNA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFNA1 Gene

Genomics for EFNA1 Gene

Regulatory Elements for EFNA1 Gene

Promoters for EFNA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFNA1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EFNA1 Gene

Chromosome:
1
Start:
155,127,460 bp from pter
End:
155,134,910 bp from pter
Size:
7,451 bases
Orientation:
Plus strand

Genomic View for EFNA1 Gene

Genes around EFNA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFNA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFNA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFNA1 Gene

Proteins for EFNA1 Gene

  • Protein details for EFNA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20827-EFNA1_HUMAN
    Recommended name:
    Ephrin-A1
    Protein Accession:
    P20827
    Secondary Accessions:
    • D3DV86
    • Q5SR60
    • Q5SR61
    • Q6I9T9
    • Q8N578

    Protein attributes for EFNA1 Gene

    Size:
    205 amino acids
    Molecular mass:
    23787 Da
    Quaternary structure:
    • Monomer. Homodimer. Forms heterodimers with EPHA2. Binds to the receptor tyrosine kinases EPHA2, EPHA3, EPHA4, EPHA5, EPHA6 and EPHA7. Also binds with low affinity to EPHA1.

    Three dimensional structures from OCA and Proteopedia for EFNA1 Gene

    Alternative splice isoforms for EFNA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFNA1 Gene

Proteomics data for EFNA1 Gene at MOPED

Post-translational modifications for EFNA1 Gene

  • N-Glycosylation is required for binding to EPHA2 receptor and inducing its internalization.
  • Undergoes proteolysis by a metalloprotease to give rise to a soluble monomeric form.
  • Glycosylation at Asn 26 and Thr 152
  • Modification sites at PhosphoSitePlus

Other Protein References for EFNA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EFNA1 Gene

Domains & Families for EFNA1 Gene

Gene Families for EFNA1 Gene

Protein Domains for EFNA1 Gene

Graphical View of Domain Structure for InterPro Entry

P20827

UniProtKB/Swiss-Prot:

EFNA1_HUMAN :
  • Contains 1 ephrin RBD (ephrin receptor-binding) domain.
  • Belongs to the ephrin family.
Domain:
  • Contains 1 ephrin RBD (ephrin receptor-binding) domain.
Family:
  • Belongs to the ephrin family.
genes like me logo Genes that share domains with EFNA1: view

Function for EFNA1 Gene

Molecular function for EFNA1 Gene

GENATLAS Biochemistry:
ephrin A-1,eph-related receptor tyrosine kinase,class A,ligand,high affinity,involved in short-range contact-mediated axonal guidance
UniProtKB/Swiss-Prot Function:
Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. Plays an important role in angiogenesis and tumor neovascularization. The recruitment of VAV2, VAV3 and PI3-kinase p85 subunit by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly. Exerts anti-oncogenic effects in tumor cells through activation and down-regulation of EPHA2. Activates EPHA2 by inducing tyrosine phosphorylation which leads to its internalization and degradation. Acts as a negative regulator in the tumorigenesis of gliomas by down-regulating EPHA2 and FAK. Can evoke collapse of embryonic neuronal growth cone and regulates dendritic spine morphogenesis.
UniProtKB/Swiss-Prot Induction:
By TNF and IL1B/interleukin-1 beta.

Gene Ontology (GO) - Molecular Function for EFNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding TAS 8660976
genes like me logo Genes that share ontologies with EFNA1: view
genes like me logo Genes that share phenotypes with EFNA1: view

Animal Models for EFNA1 Gene

MGI Knock Outs for EFNA1:

Animal Model Products

miRNA for EFNA1 Gene

miRTarBase miRNAs that target EFNA1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EFNA1 Gene

Localization for EFNA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFNA1 Gene

Cell membrane; Lipid-anchor, GPI-anchor.
Ephrin-A1, secreted form: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFNA1 Gene COMPARTMENTS Subcellular localization image for EFNA1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytoskeleton 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EFNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 8660976
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EFNA1: view

Pathways & Interactions for EFNA1 Gene

genes like me logo Genes that share pathways with EFNA1: view

SIGNOR curated interactions for EFNA1 Gene

Gene Ontology (GO) - Biological Process for EFNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA,IBA --
GO:0003180 aortic valve morphogenesis ISS --
GO:0003183 mitral valve morphogenesis ISS --
GO:0007267 cell-cell signaling TAS 8660976
GO:0007411 axon guidance IBA,TAS --
genes like me logo Genes that share ontologies with EFNA1: view

Drugs & Compounds for EFNA1 Gene

(1) Drugs for EFNA1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for EFNA1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EFNA1: view

Transcripts for EFNA1 Gene

Unigene Clusters for EFNA1 Gene

Ephrin-A1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EFNA1 Gene

No ASD Table

Relevant External Links for EFNA1 Gene

GeneLoc Exon Structure for
EFNA1
ECgene alternative splicing isoforms for
EFNA1

Expression for EFNA1 Gene

mRNA expression in normal human tissues for EFNA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFNA1 Gene

This gene is overexpressed in Liver (x12.7).

Protein differential expression in normal tissues from HIPED for EFNA1 Gene

This gene is overexpressed in Vitreous humor (21.4), Testis (12.6), Gallbladder (10.3), and Thyroid (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EFNA1 Gene



SOURCE GeneReport for Unigene cluster for EFNA1 Gene Hs.516664

mRNA Expression by UniProt/SwissProt for EFNA1 Gene

P20827-EFNA1_HUMAN
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).
genes like me logo Genes that share expression patterns with EFNA1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for EFNA1 Gene

Orthologs for EFNA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFNA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EFNA1 35
  • 87.32 (n)
  • 82.44 (a)
EFNA1 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFNA1 35
  • 90.24 (n)
  • 89.76 (a)
EFNA1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efna1 35
  • 86.25 (n)
  • 86.08 (a)
Efna1 16
Efna1 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EFNA1 35
  • 99.67 (n)
  • 100 (a)
EFNA1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efna1 35
  • 86.44 (n)
  • 86.76 (a)
oppossum
(Monodelphis domestica)
Mammalia EFNA1 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFNA1 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efna1 35
  • 64.86 (n)
  • 54.59 (a)
Str.196 35
African clawed frog
(Xenopus laevis)
Amphibia elfa-A-prov 35
zebrafish
(Danio rerio)
Actinopterygii efna1a 35
  • 61.4 (n)
  • 56.14 (a)
efna1a 36
  • 48 (a)
OneToMany
efna1b 36
  • 46 (a)
OneToMany
Species with no ortholog for EFNA1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EFNA1 Gene

ENSEMBL:
Gene Tree for EFNA1 (if available)
TreeFam:
Gene Tree for EFNA1 (if available)

Paralogs for EFNA1 Gene

Paralogs for EFNA1 Gene

(4) SIMAP similar genes for EFNA1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EFNA1: view

Variants for EFNA1 Gene

Sequence variations from dbSNP and Humsavar for EFNA1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_014791 -
rs6665822 -- 155,130,671(+) TAGAA(A/C)GGGAA intron-variant, utr-variant-5-prime
rs11264330 -- 155,126,429(+) GGGCC(A/G)GAGCT upstream-variant-2KB
rs11264331 -- 155,127,789(+) CCCCC(A/G)GGCAG upstream-variant-2KB
rs11264332 -- 155,132,916(+) TTTTT(G/T)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFNA1 Gene

Variant ID Type Subtype PubMed ID
nsv509502 CNV Insertion 20534489
nsv872455 CNV Loss 21882294
nsv464084 CNV Loss 19166990
dgv3n68 CNV Loss 17160897
dgv132e1 CNV Complex 17122850

Variation tolerance for EFNA1 Gene

Residual Variation Intolerance Score: 70% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.67; 86.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFNA1 Gene

HapMap Linkage Disequilibrium report
EFNA1
Human Gene Mutation Database (HGMD)
EFNA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFNA1 Gene

Disorders for EFNA1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EFNA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
arteriovenous malformation
  • arteriovenous hemangioma
- elite association - COSMIC cancer census association via MalaCards
Search EFNA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EFNA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFNA1
genes like me logo Genes that share disorders with EFNA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EFNA1 Gene

Publications for EFNA1 Gene

  1. A novel immediate-early response gene of endothelium is induced by cytokines and encodes a secreted protein. (PMID: 2233719) Holzman L.B. … Dixit V.M. (Mol. Cell. Biol. 1990) 2 3 4 67
  2. 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. (PMID: 8660976) Cerretti D.P. … Morris S.W. (Genomics 1996) 2 3 23
  3. A potential tumor suppressor role for Hic1 in breast cancer through transcriptional repression of ephrin-A1. (PMID: 20154726) Zhang W. … Watkins D.N. (Oncogene 2010) 3 23
  4. Ligand recognition by A-class Eph receptors: crystal structures of the EphA2 ligand-binding domain and the EphA2/ephrin-A1 complex. (PMID: 19525919) Himanen J.P. … Nikolov D.B. (EMBO Rep. 2009) 3 23
  5. EphA2 mediates ligand-dependent inhibition and ligand-independent promotion of cell migration and invasion via a reciprocal regulatory loop with Akt. (PMID: 19573808) Miao H. … Wang B. (Cancer Cell 2009) 3 23

Products for EFNA1 Gene

Sources for EFNA1 Gene

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