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EFNA1 Gene

protein-coding   GIFtS: 64
GCID: GC01P155099

Ephrin-A1


(Previous symbols: TNFAIP4, EPLG1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ephrin-A11 2     LERK12 3
EPLG11 2 3 5     TNF Alpha-Induced Protein 42 3
TNFAIP41 2 3 5     B612
EPH-Related Receptor Tyrosine Kinase Ligand 12 3     ECKLG2
Immediate Early Response Protein B612 3     EFL12
Tumor Necrosis Factor Alpha-Induced Protein 42 3     Ligand Of Eph-Related Kinase 12
LERK-12 3     Tumor Necrosis Factor, Alpha-Induced Protein 42

External Ids:    HGNC: 32211   Entrez Gene: 19422   Ensembl: ENSG000001692427   OMIM: 1911645   UniProtKB: P208273   

Export aliases for EFNA1 gene to outside databases

Previous GC identifers: GC01P152980 GC01P150840 GC01P151875 GC01P152317 GC01P152318 GC01P151913 GC01P153367 GC01P126462


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pterygium, and arteriovenous malformation. GO annotations related to this gene include ephrin receptor binding and receptor binding. An important paralog of this gene is EFNA2.

UniProtKB/Swiss-Prot: EFNA1_HUMAN, P20827
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

Gene Wiki entry for EFNA1 (Ephrin A1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EFNA1 gene promoter:
         CHOP-10   PPAR-gamma1   Pax-3   Lmo2   STAT3   MRF-2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EFNA1 promoter sequence
   Search Chromatin IP Primers for EFNA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EFNA1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21-q22   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q21-q22

EFNA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFNA1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P155099:  view genomic region     (about GC identifiers)

Start:
155,099,936 bp from pter      End:
155,107,386 bp from pter
Size:
7,451 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: EFNA1_HUMAN, P20827 (See protein sequence)
Recommended Name: Ephrin-A1 precursor  
Size: 205 amino acids; 23787 Da
Subunit: 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
3 PDB 3D structures from and Proteopedia for EFNA1:
3CZU (3D)        3HEI (3D)        3MBW (3D)    
Secondary accessions: D3DV86 Q5SR60 Q5SR61 Q6I9T9 Q8N578
Alternative splicing: 2 isoforms:  P20827-1   P20827-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EFNA1: NX_P20827

Explore proteomics data for EFNA1 at MOPED

Post-translational modifications: 

  • Undergoes proteolysis by a metalloprotease to give rise to a soluble monomeric form1
  • Glycosylation2 at Asn26, Thr152
  • Modification sites at PhosphoSitePlus

  • See EFNA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004419.2  NP_872626.1  

    ENSEMBL proteins: 
     ENSP00000357392   ENSP00000357391  

    EFNA1 Human Recombinant Protein Products:

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    EFNA1 Antibody Products:

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    Cloud-Clone Corp. CLIAs for EFNA1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFN: Ephrins

    3 InterPro protein domains:
     IPR001799 Ephrin
     IPR008972 Cupredoxin
     IPR019765 Ephrin_CS

    Graphical View of Domain Structure for InterPro Entry P20827

    ProtoNet protein and cluster: P20827

    1 Blocks protein domain: IPB001799 Ephrin signature

    UniProtKB/Swiss-Prot: EFNA1_HUMAN, P20827
    Similarity: Belongs to the ephrin family
    Similarity: Contains 1 ephrin RBD (ephrin receptor-binding) domain


    EFNA1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EFNA1_HUMAN, P20827
    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
    Induction: By TNF and IL1B/interleukin-1 beta

         Genatlas biochemistry entry for EFNA1:
    ephrin A-1,eph-related receptor tyrosine kinase,class A,ligand,high affinity,involved in short-range
    contact-mediated axonal guidance

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding TAS8660976
    GO:0005515protein binding IPI19525919
    GO:0046875ephrin receptor binding IPI15777695
         
    EFNA1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Efna1):
     cardiovascular system  muscle  skeleton 

    EFNA1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Efna1tm1Jinc for EFNA1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EFNA1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for EFNA1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EFNA1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EFNA1

    miRNA
    Products:
        
    miRTarBase miRNAs that target EFNA1:
    hsa-mir-9-5p (MIRT021322), hsa-mir-124-3p (MIRT022145), hsa-mir-335-5p (MIRT016724), hsa-mir-218-5p (MIRT001058)

    Block miRNA regulation of human, mouse, rat EFNA1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EFNA1 (see all 18):
    hsa-miR-485-5p hsa-miR-429 hsa-miR-938 hsa-miR-1271 hsa-miR-1304 hsa-miR-9 hsa-miR-3674 hsa-miR-296-5p
    SwitchGear 3'UTR luciferase reporter plasmidEFNA1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for EFNA1
    Predesigned siRNA for gene silencing in human, mouse, rat EFNA1

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EFNA1 (NM_182685)
    Sino Biological Human cDNA Clone for EFNA1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EFNA1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFNA1

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFNA1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EFNA1_HUMAN, P20827: Cell membrane; Lipid-anchor, GPI-anchor
    EFNA1_HUMAN, P20827: Ephrin-A1, secreted form: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton2
    cytosol1
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005887integral component of plasma membrane TAS8660976
    GO:0016020membrane ----
    GO:0046658anchored component of plasma membrane IBA--

    EFNA1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EFNA1 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Ras signaling pathway
    Rap1 signaling pathway0.36
    Ras signaling pathway0.36
    2EphB-EphrinB Signaling
    Ephrin-Eph Signaling0.58
    3Development Slit Robo signaling
    Neurophysiological process Receptor mediated axon growth repulsion0.41
    4EPHB forward signaling
    Cell adhesion Ephrins signaling0.30
    5Stabilization and expansion of the E-cadherin adherens junction
    Stabilization and expansion of the E-cadherin adherens junction

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EFNA1
        Guidance Cues and Growth Cone Motility
    Ephrin-Eph Signaling
    EphrinA-EphR Signaling

    3 GeneGo (Thomson Reuters) Pathways for EFNA1
        Neurophysiological process Receptor-mediated axon growth repulsion
    G-protein signaling RhoA regulation pathway
    Cell adhesion Ephrins signaling

    5 BioSystems Pathways for EFNA1
        EPHA2 forward signaling
    Arf6 signaling events
    HIF-2-alpha transcription factor network
    EPHA forward signaling
    Stabilization and expansion of the E-cadherin adherens junction



    4 Kegg Pathways  (Kegg details for EFNA1):
        Ras signaling pathway
    Rap1 signaling pathway
    PI3K-Akt signaling pathway
    Axon guidance


    EFNA1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EFNA1: 
              Notch Signaling Targets in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Angiogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EFNA1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EFNA1 (P208271, 2, 3 ENSP000003573924) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPHA2P293171, 2, 3, ENSP000003512094EBI-715194,EBI-702104 MINT-7218724 MINT-7218694 I2D: score=4 STRING: ENSP00000351209
    EEF1GP266412, 3MINT-64466 I2D: score=5 
    KAT5Q929932, 3MINT-64467 I2D: score=5 
    XRCC6P129562, 3MINT-8254963 I2D: score=2 
    PPBPP027752, 3, ENSP000002960284MINT-64465 MINT-8254952 I2D: score=5 STRING: ENSP00000296028
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0000187activation of MAPK activity IEA--
    GO:0001525angiogenesis IBA--
    GO:0003180aortic valve morphogenesis ISS--
    GO:0003183mitral valve morphogenesis ISS--

    EFNA1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EFNA1

    3 Novoseek inferred chemical compound relationships for EFNA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 64.9 20 10064801 (1), 12775584 (1), 11641774 (1), 12794130 (1) (see all 17)
    vegf 34.9 3 11331884 (1), 17765896 (1), 16359662 (1)
    oligonucleotide 29.3 3 15888795 (1)



    EFNA1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for EFNA1 gene (2 alternative transcripts): 
    NM_004428.2  NM_182685.1  

    Unigene Cluster for EFNA1:

    Ephrin-A1
    Hs.516664  [show with all ESTs]
    Unigene Representative Sequence: AK057845
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368407(uc001fhh.3 uc001fhi.3) ENST00000368406 ENST00000469878
    ENST00000474413 ENST00000497282
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    Selected qRT-PCR Assays for microRNAs that regulate EFNA1 (see all 18):
    hsa-miR-485-5p hsa-miR-429 hsa-miR-938 hsa-miR-1271 hsa-miR-1304 hsa-miR-9 hsa-miR-3674 hsa-miR-296-5p
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat EFNA1
      QuantiFast Probe-based Assays in human, mouse, rat EFNA1

    Additional mRNA sequence: 

    AK057845.1 AK289589.1 AK308965.1 AK313117.1 AL833641.1 BC032698.1 BC095432.1 BC150578.1 
    CR457416.1 M57730.1 

    16 DOTS entries:

    DT.456230  DT.95346866  DT.121351158  DT.91730050  DT.100825603  DT.100825621  DT.95346864  DT.100825614 
    DT.87015618  DT.100825608  DT.121351123  DT.121351154  DT.121351181  DT.121351163  DT.91699736  DT.92440878 

    Selected AceView cDNA sequences (see all 373):

    BU535448 CR615466 CR614760 D17034 CR614778 BM772072 CR607956 AL710009 
    CR607272 AI983762 BM821291 AA371234 CR626241 CR616575 BI770645 CR620399 
    BQ882989 CR624077 BG057099 BU633076 CR620274 AL548804 CR599087 BQ772940 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EFNA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTACATTCT
    EFNA1 Expression
    About this image


    EFNA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Gonad
             Primordial germ cell-like cells
     
     Eye (Sensory Organs)
             Lens
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
    EFNA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EFNA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516664

    UniProtKB/Swiss-Prot: EFNA1_HUMAN, P20827
    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)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EFNA1: 
              Notch Signaling Targets in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat
              Angiogenesis in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for EFNA1
    OriGene qSTAR qPCR primer pairs in human, mouse for EFNA1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EFNA1
    QuantiTect SYBR Green Assays in human, mouse, rat EFNA1
    QuantiFast Probe-based Assays in human, mouse, rat EFNA1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFNA1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for EFNA1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Efna11 , 5 ephrin A11, 5 86.25(n)1
    86.08(a)1
      3 (39.04 cM)5
    136361  NM_010107.41  NP_034237.31 
     892717335 
    African clawed frog
    (Xenopus laevis)
    Amphibia elfa-A-prov2 eph ligand family-a 72.89(n)    U31204.1 
    zebrafish
    (Danio rerio)
    Actinopterygii efna1a1 ephrin A1a 61.4(n)
    56.14(a)
      393569  NM_200597.1  NP_956891.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EFNA1 gene
    EFNA22  EFNA52  EFNA32  EFNA42  ENSG000002512462  
    4 SIMAP similar genes for EFNA1 using alignment to 2 protein entries:     EFNA1_HUMAN (see all proteins):
    EFNA5    EFNA3    EFNA4    EFNA2

    EFNA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EFNA1 (see all 159)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs341526341,2
    C--155098365(+) AATGAA/CCAAAA 2 -- us2k10--------
    rs1828234511,2
    --155098378(+) AAAACC/TCATGT 2 -- us2k10--------
    rs1889685741,2
    --155098622(+) GTGGCA/GCTGGC 2 -- us2k10--------
    rs1144181621,2
    F--155098645(+) CCGGCC/TCTGAC 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1488830901,2
    --155098824(+) GGGCCC/TCGCGT 2 -- us2k10--------
    rs112643301,2
    C,F,H--155098905(+) GGGCCG/AGAGCT 2 -- us2k18Minor allele frequency- A:0.01NS NA WA 872
    rs596985741,2
    --155099366(+) CACGCC/GGGTAC 2 -- us2k10--------
    rs1907156301,2
    --155099411(+) CATTAC/GCATAC 2 -- us2k10--------
    rs2015511331,2
    --155099487(+) CTAGC-/AGGCGCC 2 -- us2k10--------
    rs792000771,2
    C--155099488(+) CTAGCA/GCGCCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for EFNA1 (155099936 - 155107386 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for EFNA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509502CNV Insertion20534489
    dgv3n68CNV Loss17160897
    nsv464084CNV Loss19166990
    nsv872455CNV Loss21882294
    dgv132e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 191164    OMIM disorders: --

    Selected diseases for EFNA1 (see all 33):    
    About MalaCards
    pterygium    arteriovenous malformation    labyrinthitis    adenoid cystic carcinoma
    malignant glioma    glioblastoma multiforme    adenoiditis    endometrial carcinoma
    endometriosis    gastric adenocarcinoma    endotheliitis    infertility
    colorectal cancer    osteosarcoma    melanoma    chronic lymphocytic leukemia
    renal cell carcinoma    ischemia    hypoxia    hepatocellular carcinoma

    1 disease from the University of Copenhagen DISEASES database for EFNA1:
    Cancer

    EFNA1 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for EFNA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 34.8 17 7780963 (6), 10502726 (6), 11891198 (1)
    tumors 28.2 34 11146556 (6), 18246128 (4), 14965363 (3), 20154726 (3) (see all 13)
    neovascularization 26 4 11146556 (2), 14965363 (1), 17049832 (1)
    cancer 15.2 8 20154726 (2), 11146556 (2), 18246128 (1), 11741747 (1) (see all 5)
    adenocarcinoma 7.15 1 9357823 (1)
    breast cancer 6.28 6 20154726 (3), 16098464 (1), 20223987 (1), 15649254 (1)
    metastasis 1.51 4 15888795 (1), 17686315 (1), 17972146 (1)
    necrosis 0 1 8070404 (1)
    gastric cancer 0 3 15649254 (2)
    colorectal cancer 0 1 14965363 (1)


    Export disorders for EFNA1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EFNA1 gene, integrated from 10 sources (see all 131):
    (articles sorted by number of sources associating them with EFNA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel immediate-early response gene of endothelium is induced by cytokines and encodes a secreted protein. (PubMed id 2233719)1, 2, 3 Holzman L.B.... Dixit V.M. (Mol. Cell. Biol. 1990)
    2. Ephrin-A1 is a negative regulator in glioma through down-regulation of EphA2 and FAK. (PubMed id 17332925)1, 2, 9 Liu D.-P.... Xie D. (Int. J. Oncol. 2007)
    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. (PubMed id 8660976)1, 3, 9 Cerretti D.P....Morris S.W. (Genomics 1996)
    4. Ligand recognition by A-class Eph receptors: crystal structures of the EphA2 ligand-binding domain and the EphA2/ephrin-A1 complex. (PubMed id 19525919)1, 2, 9 Himanen J.P.... Nikolov D.B. (EMBO Rep. 2009)
    5. Soluble monomeric EphrinA1 is released from tumor cells and is a functional ligand for the EphA2 receptor. (PubMed id 18794797)1, 2 Wykosky J.... Debinski W. (Oncogene 2008)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Ligands for the receptor tyrosine kinases hek and elk: isolation of cDNAs encoding a family of proteins. (PubMed id 7838529)1, 2 Kozlosky C.J.... Beckmann M.P. (Oncogene 1995)
    10. Ephrin-A1 suppresses Th2 cell activation and provides a regulatory link to lung epithelial cells. (PubMed id 14707054)1, 9 Wohlfahrt J.G....Schmidt-Weber C.B. (J. Immunol. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1942 HGNC: 3221 AceView: EFNA1 Ensembl:ENSG00000169242 euGenes: HUgn1942
    ECgene: EFNA1 Kegg: 1942 H-InvDB: EFNA1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for EFNA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EFNA1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EFNA1 gene:
    Search GeneIP for patents involving EFNA1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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