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    EPHA1 EPH receptor A1 [ Homo sapiens (human) ]

    Gene ID: 2041, updated on 9-Dec-2024

    Summary

    Official Symbol
    EPHA1provided by HGNC
    Official Full Name
    EPH receptor A1provided by HGNC
    Primary source
    HGNC:HGNC:3385
    See related
    Ensembl:ENSG00000146904 MIM:179610; AllianceGenome:HGNC:3385
    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
    EPH; EPHT; EPHT1
    Summary
    This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in esophagus (RPKM 21.6), skin (RPKM 11.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPHA1 in Genome Data Viewer
    Location:
    7q34-q35
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (143391129..143408856, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (144746556..144764287, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (143088222..143105949, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 131 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26792 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:143077234-143078134 Neighboring gene FAM131B antisense RNA 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:143088659-143089259 Neighboring gene Sharpr-MPRA regulatory region 10434 Neighboring gene microRNA 6892 Neighboring gene Sharpr-MPRA regulatory region 2529 Neighboring gene zyxin Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:143101922-143102436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:143106021-143106633 Neighboring gene EPHA1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12322 Neighboring gene taste 2 receptor member 62 pseudogene Neighboring gene taste 2 receptor member 60

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
    EBI GWAS Catalog
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC163163

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables GPI-linked ephrin receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables boss receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables brain-derived neurotrophic factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables epidermal growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables fibroblast growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables fibronectin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables hepatocyte growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H2AXY142 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3Y41 kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables insulin receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables insulin-like growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables macrophage colony-stimulating factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables placental growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables platelet-derived growth factor alpha-receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables platelet-derived growth factor beta-receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase collagen receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables stem cell factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transmembrane-ephrin receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables vascular endothelial growth factor receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in Kit signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in activation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in brain-derived neurotrophic factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell surface receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen-activated tyrosine kinase receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epidermal growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fibroblast growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hepatocyte growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in insulin-like growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in macrophage colony-stimulating factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-tyrosine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in platelet-derived growth factor receptor-alpha signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet-derived growth factor receptor-beta signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of stress fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of GTPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in substrate adhesion-dependent cell spreading IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vascular endothelial growth factor receptor-1 signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular endothelial growth factor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ephrin type-A receptor 1
    Names
    eph tyrosine kinase 1
    erythropoietin-producing hepatoma amplified sequence
    erythropoietin-producing hepatoma receptor
    hEpha1
    oncogene EPH
    tyrosine-protein kinase receptor EPH
    NP_005223.4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_005232.5NP_005223.4  ephrin type-A receptor 1 precursor

      See identical proteins and their annotated locations for NP_005223.4

      Status: REVIEWED

      Source sequence(s)
      AI057542, BC130291, CN289901, EU826605
      Consensus CDS
      CCDS5884.1
      UniProtKB/Swiss-Prot
      A1L3V3, B5A966, B5A967, P21709, Q15405
      UniProtKB/TrEMBL
      A8K2T6
      Related
      ENSP00000275815.3, ENST00000275815.4
      Conserved Domains (7) summary
      cd09542
      Location:912974
      SAM_EPH-A1; SAM domain of EPH-A1 subfamily of tyrosine kinase receptors
      smart00454
      Location:911976
      SAM; Sterile alpha motif
      cd10479
      Location:27203
      EphR_LBD_A1; Ligand Binding Domain of Ephrin type-A Receptor 1
      cd00063
      Location:453535
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam00041
      Location:334431
      fn3; Fibronectin type III domain
      pfam07714
      Location:624880
      Pkinase_Tyr; Protein tyrosine kinase
      cl21453
      Location:619884
      PKc_like; Protein Kinases, catalytic domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      143391129..143408856 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654714.1 Reference GRCh38.p14 PATCHES

      Range
      10493..28220 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      144746556..144764287 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)