Format

Send to:

Choose Destination

EPHA1 EPH receptor A1 [ Homo sapiens (human) ]

Gene ID: 2041, updated on 20-Jan-2019

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
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

Genomic context

See EPHA1 in Genome Data Viewer
Location:
7q34-q35
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (143390813..143408892, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (143088205..143105985, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 131 member B Neighboring gene uncharacterized LOC100507507 Neighboring gene microRNA 6892 Neighboring gene zyxin Neighboring gene EPHA1 antisense RNA 1 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • 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...
  • POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystem (from REACTOME)
    POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation, organism-specific biosystemPOU5F1 (OCT4), SOX2, and NANOG bind elements in the promoters of target genes. The target genes of each transcription factor overlap extensively: POU5F1, SOX2, and NANOG co-occupy at least 353 genes ...
  • Transcriptional regulation of pluripotent stem cells, organism-specific biosystem (from REACTOME)
    Transcriptional regulation of pluripotent stem cells, organism-specific biosystemPluripotent stem cells are undifferentiated cells posessing an abbreviated cell cycle (reviewed in Stein et al. 2012), a characteristic profile of gene expression (Rao et al. 2004, Kim et al. 2006, P...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163163

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane-ephrin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane-ephrin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell-matrix adhesion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of stress fiber assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
somatic stem cell population maintenance TAS
Traceable Author Statement
more info
 
substrate adhesion-dependent cell spreading IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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
soluble EPHA1 variant 1
soluble EPHA1 variant 2
tyrosine-protein kinase receptor EPH
NP_005223.4
XP_006715943.1

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_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
    P21709
    Related
    ENSP00000275815.3, ENST00000275815.3
    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: 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_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    143390813..143408892 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715880.3XP_006715943.1  ephrin type-A receptor 1 isoform X1

    Conserved Domains (6) summary
    cd09542
    Location:797859
    SAM_EPH-A1; SAM domain of EPH-A1 subfamily of tyrosine kinase receptors
    smart00454
    Location:796861
    SAM; Sterile alpha motif
    cd10479
    Location:27203
    EphR_LBD_A1; Ligand Binding Domain of Ephrin type-A Receptor 1
    cd00063
    Location:338420
    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 ...
    pfam07714
    Location:509765
    Pkinase_Tyr; Protein tyrosine kinase
    cl21453
    Location:504769
    PKc_like; Protein Kinases, catalytic domain

RNA

  1. XR_428169.4 RNA Sequence

    Related
    ENST00000488068.5

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_018654714.1 Reference GRCh38.p12 PATCHES

    Range
    10476..28256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center