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    EFNA1 ephrin A1 [ Homo sapiens (human) ]

    Gene ID: 1942, updated on 21-Apr-2019

    Summary

    Official Symbol
    EFNA1provided by HGNC
    Official Full Name
    ephrin A1provided by HGNC
    Primary source
    HGNC:HGNC:3221
    See related
    Ensembl:ENSG00000169242 MIM:191164
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B61; EFL1; ECKLG; EPLG1; LERK1; LERK-1; TNFAIP4
    Summary
    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]
    Expression
    Broad expression in placenta (RPKM 65.2), lung (RPKM 54.9) and 22 other tissues See more
    Orthologs

    Genomic context

    See EFNA1 in Genome Data Viewer
    Location:
    1q22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (155127873..155134910)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155100349..155107386)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DCST1 antisense RNA 1 Neighboring gene ephrin A4 Neighboring gene ephrin A3 Neighboring gene solute carrier family 50 member 1 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 3

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Arf6 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Arf6 signaling events, organism-specific biosystem
      Arf6 signaling events
    • Axon guidance, organism-specific biosystem (from KEGG)
      Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, conserved biosystem (from KEGG)
      Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
      EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
    • EPH-ephrin mediated repulsion of cells, organism-specific biosystem (from REACTOME)
      EPH-ephrin mediated repulsion of cells, organism-specific biosystemDespite high-affinity multimeric interaction between EPHs and ephrins (EFNs), the cellular response to EPH-EFN engagement is usually repulsion between the two cells and signal termination. These repu...
    • EPHA forward signaling, organism-specific biosystem (from Pathway Interaction Database)
      EPHA forward signaling, organism-specific biosystem
      EPHA forward signaling
    • EPHA-mediated growth cone collapse, organism-specific biosystem (from REACTOME)
      EPHA-mediated growth cone collapse, organism-specific biosystemEPH/Ephrin signaling is coupled to Rho family GTPases such as Rac, Rho and Cdc42 that connect bidirectional receptor-ligand interactions to changes in the actin cytoskeleton (Noren & Pasquale 2004, G...
    • EPHA2 forward signaling, organism-specific biosystem (from Pathway Interaction Database)
      EPHA2 forward signaling, organism-specific biosystem
      EPHA2 forward signaling
    • HIF-2-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      HIF-2-alpha transcription factor network, organism-specific biosystem
      HIF-2-alpha transcription factor network
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
      Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
    • Rap1 signaling pathway, conserved biosystem (from KEGG)
      Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
    • Ras signaling pathway, organism-specific biosystem (from KEGG)
      Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
    • Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem (from Pathway Interaction Database)
      Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem
      Stabilization and expansion of the E-cadherin adherens junction

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ephrin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    signaling receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    aortic valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    endocardial cushion to mesenchymal transition involved in heart valve formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ephrin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ephrin receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    ephrin receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    mitral valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of dendritic spine morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of proteolysis involved in cellular protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of thymocyte apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    notochord formation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of MAPK cascade IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of amyloid-beta formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein tyrosine kinase activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein stabilization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of blood vessel endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cell adhesion mediated by integrin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    substrate adhesion-dependent cell spreading IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    ephrin-A1
    Names
    TNF alpha-induced protein 4
    eph-related receptor tyrosine kinase ligand 1
    epididymis secretory sperm binding protein
    immediate early response protein B61
    ligand of eph-related kinase 1
    tumor necrosis factor, alpha-induced protein 4

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004428.3NP_004419.2  ephrin-A1 isoform a precursor

      See identical proteins and their annotated locations for NP_004419.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK057845, AL833641, AW274944, M57730
      Consensus CDS
      CCDS1091.1
      UniProtKB/Swiss-Prot
      P20827
      Related
      ENSP00000357392.3, ENST00000368407.8
      Conserved Domains (1) summary
      cd10425
      Location:19148
      Ephrin-A_Ectodomain; Ectodomain of Ephrin A
    2. NM_182685.1NP_872626.1  ephrin-A1 isoform b precursor

      See identical proteins and their annotated locations for NP_872626.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment, compared to variant 1. The resulting protein (isoform b) is shorter when compared to isoform a.
      Source sequence(s)
      AK057845, AL833641, AW274944
      Consensus CDS
      CCDS1092.1
      UniProtKB/Swiss-Prot
      P20827
      Related
      ENSP00000357391.2, ENST00000368406.2
      Conserved Domains (1) summary
      cd10425
      Location:19142
      Ephrin-A_Ectodomain; Ectodomain of Ephrin A

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      155127873..155134910
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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