EFNA1 Gene (Protein Coding)

Ephrin A1

GC01P155127
GIFtS:
42
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) clas... See more...

Aliases for EFNA1 Gene

Aliases for EFNA1 Gene

  • Ephrin A1 2 3 5
  • Ephrin-A1 2 3 4
  • EPH-Related Receptor Tyrosine Kinase Ligand 1 2 4
  • Tumor Necrosis Factor Alpha-Induced Protein 4 2 4
  • Immediate Early Response Protein B61 3 4
  • TNF Alpha-Induced Protein 4 3 4
  • 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
  • Epididymis Secretory Sperm Binding Protein 3
  • 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 Cortical Senile Cataract and Breast Cancer. Among its related pathways are G-protein signaling_RhoA regulation pathway 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.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for EFNA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EFNA1 Gene

Genomics for EFNA1 Gene

GeneHancer (GH) Regulatory Elements for EFNA1 Gene

Promoters and enhancers for EFNA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFNA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFNA1

Top Transcription factor binding sites by QIAGEN in the EFNA1 gene promoter:
  • C/EBPalpha
  • CHOP-10
  • Lmo2
  • MRF-2
  • Pax-3
  • PPAR-gamma1
  • STAT3

Genomic Locations for EFNA1 Gene

Genomic Locations for EFNA1 Gene
chr1:155,127,873-155,134,910
(GRCh38/hg38)
Size:
7,038 bases
Orientation:
Plus strand
chr1:155,099,936-155,107,386
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for EFNA1 Gene

Proteins for EFNA1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for EFNA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for EFNA1 Gene

  • Undergoes proteolysis by a metalloprotease to give rise to a soluble monomeric form.
  • N-Glycosylation is required for binding to EPHA2 receptor and inducing its internalization.
  • Glycosylation at Asn26 and Thr152
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • EFNA1_HUMAN (1209)

Other Protein References for EFNA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EFNA1 Gene

Domains & Families for EFNA1 Gene

Gene Families for EFNA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted secreted proteins

Protein Domains for EFNA1 Gene

Blocks:
  • Ephrin signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFNA1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ75959, highly similar to Homo sapiens ephrin-A1 (EFNA1), transcript variant 2, mRNA (A8K0M4_HUMAN)
  • Tumor necrosis factor alpha-induced protein 4 (EFNA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20827

UniProtKB/Swiss-Prot:

EFNA1_HUMAN :
  • Belongs to the ephrin family.
Family:
  • Belongs to the ephrin family.
genes like me logo Genes that share domains with EFNA1: view

Function for EFNA1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for EFNA1 Gene

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.
GENATLAS Biochemistry:
ephrin A-1,eph-related receptor tyrosine kinase,class A,ligand,high affinity,involved in short-range contact-mediated axonal guidance

Phenotypes From GWAS Catalog for EFNA1 Gene

Gene Ontology (GO) - Molecular Function for EFNA1 Gene

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
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:
  • Efna1 Efna1<tm1Jinc>
  • Efna1 Efna1<tm1a(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for EFNA1

CRISPR Products

miRNA for EFNA1 Gene

miRTarBase miRNAs that target EFNA1

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EFNA1 gene
Compartment Confidence
plasma membrane 4
extracellular 4
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EFNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS,IBA --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
GO:0046658 anchored component of plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with EFNA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EFNA1 Gene

Pathways & Interactions for EFNA1 Gene

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

Pathways by source for EFNA1 Gene

3 GeneGo (Thomson Reuters) pathways for EFNA1 Gene
  • Cell adhesion Ephrins signaling
  • G-protein signaling_RhoA regulation pathway
  • Neurophysiological process Receptor-mediated axon growth repulsion
3 Qiagen pathways for EFNA1 Gene
  • EphrinA-EphR Signaling
  • Ephrin-Eph Signaling
  • Guidance Cues and Growth Cone Motility

SIGNOR curated interactions for EFNA1 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for EFNA1 Gene

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 --
genes like me logo Genes that share ontologies with EFNA1: view

Drugs & Compounds for EFNA1 Gene

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EFNA1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for EFNA1 Gene

GeneLoc Exon Structure for
EFNA1

Expression for EFNA1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EFNA1 Gene

mRNA expression in normal human tissues for EFNA1 Gene
mRNA expression by GTEx for EFNA1 GenemRNA expression by BioGPS 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 and MOPED for EFNA1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EFNA1

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).

Evidence on tissue expression from TISSUES for EFNA1 Gene

  • Lung(2.9)
  • Heart(2.5)
  • Intestine(2.3)
  • Skin(2)
  • Liver(4.4)
  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with EFNA1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
 Mammalia EFNA1 31 30
  • 99.67 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia EFNA1 31 30
  • 90.24 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia EFNA1 31 30
  • 87.32 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Efna1 30
  • 86.44 (n)
mouse
(Mus musculus)
 Mammalia Efna1 17 31 30
  • 86.25 (n)
oppossum
(Monodelphis domestica)
 Mammalia EFNA1 31
  • 80 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia EFNA1 31
  • 65 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia efna1 30
  • 64.86 (n)
Str.196 30
African clawed frog
(Xenopus laevis)
 Amphibia elfa-A-prov 30
zebrafish
(Danio rerio)
 Actinopterygii efna1a 31 30
  • 61.4 (n)
 OneToMany
efna1b 31
  • 46 (a)
 OneToMany
Species where no ortholog for EFNA1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EFNA1: view image

Paralogs for EFNA1 Gene

Paralogs for EFNA1 Gene

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

  • EFNA1_HUMAN
  • A8K0M4_HUMAN
genes like me logo Genes that share paralogs with EFNA1: view

Variants for EFNA1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFNA1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs4745 - p.Asp159Val

Additional dbSNP identifiers (rs#s) for EFNA1 Gene

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

Variant ID Type Subtype PubMed ID
dgv3n68 CNV loss 17160897
esv2758971 CNV gain 17122850
esv3587615 CNV gain 21293372
nsv464084 CNV loss 19166990
nsv509502 CNV insertion 20534489
nsv547961 CNV loss 21841781
nsv998756 CNV gain 25217958

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)

Additional Variant Information for EFNA1 Gene

Human Gene Mutation Database (HGMD)
EFNA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFNA1

SNP Genotyping and Copy Number Assay Products

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

Disorders for EFNA1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EFNA1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cortical senile cataract
breast cancer
  • breast cancer, familial
microcephaly 1, primary, autosomal recessive
  • mcph1
glioblastoma multiforme
  • adult glioblastoma multiforme
- elite association - COSMIC cancer census association via MalaCards
Search EFNA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EFNA1

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Ligand recognition by A-class Eph receptors: crystal structures of the EphA2 ligand-binding domain and the EphA2/ephrin-A1 complex. (PMID: 19525919) Himanen JP … Nikolov DB (EMBO reports 2009) 3 4 23 54
  2. Ephrin-A1 is a negative regulator in glioma through down-regulation of EphA2 and FAK. (PMID: 17332925) Liu DP … Xie D (International journal of oncology 2007) 3 4 23 54
  3. 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 DP … Morris SW (Genomics 1996) 2 3 23 54
  4. A novel immediate-early response gene of endothelium is induced by cytokines and encodes a secreted protein. (PMID: 2233719) Holzman LB … Dixit VM (Molecular and cellular biology 1990) 2 3 4 54
  5. Biological and structural characterization of glycosylation on ephrin-A1, a preferred ligand for EphA2 receptor tyrosine kinase. (PMID: 23661698) Ferluga S … Debinski W (The Journal of biological chemistry 2013) 3 4 54

ExternalLinks

View latest publications for EFNA1 gene in Mastermind

Products for EFNA1 Gene

Sources for EFNA1 Gene