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EPHA1 Gene(Protein Coding)

EPH Receptor A1

GCID:
GC07M143390
GIFtS:
57
Genes Participants
UDN Logo

Aliases for EPHA1 Gene

Aliases for EPHA1 Gene

  • EPH Receptor A1 2 3 5
  • Erythropoietin-Producing Hepatoma Receptor 3 4
  • Tyrosine-Protein Kinase Receptor EPH 3 4
  • EC 2.7.10.1 4 56
  • HEpha1 3 4
  • EPHT1 3 4
  • EPHT 3 4
  • EPH 3 4
  • Erythropoietin-Producing Hepatoma Amplified Sequence 3
  • Ephrin Type-A Receptor 1 3
  • Soluble EPHA1 Variant 1 3
  • Soluble EPHA1 Variant 2 3
  • Eph Tyrosine Kinase 1 3
  • EPH Tyrosine Kinase 1 4
  • EPH Tyrosine Kinase 4
  • Oncogene EPH 3
  • EC 2.7.10 56
  • EphA1 2

External Ids for EPHA1 Gene

Previous HGNC Symbols for EPHA1 Gene

  • EPHT
  • EPHT1

Previous GeneCards Identifiers for EPHA1 Gene

  • GC07M141414
  • GC07M142482
  • GC07M142559
  • GC07M142605
  • GC07M142798
  • GC07M143087
  • GC07M137425

Summaries for EPHA1 Gene

Entrez Gene Summary for EPHA1 Gene

  • 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]

GeneCards Summary for EPHA1 Gene

EPHA1 (EPH Receptor A1) is a Protein Coding gene. Diseases associated with EPHA1 include Placenta Praevia and Craniofrontonasal Syndrome. Among its related pathways are Development Slit-Robo signaling and EPH-Ephrin signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is EPHA2.

UniProtKB/Swiss-Prot for EPHA1 Gene

  • Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand. Upon activation by EFNA1 induces cell attachment to the extracellular matrix inhibiting cell spreading and motility through regulation of ILK and downstream RHOA and RAC. Plays also a role in angiogenesis and regulates cell proliferation. May play a role in apoptosis.

Tocris Summary for EPHA1 Gene

  • Eph receptors are the largest family of receptor tyrosine kinases (RTKs) and are divided into two subclasses, EphA and EphB. Originally identified as mediators of axon guidance, Eph receptors are implicated in many processes, particularly cancer development and progression.

Gene Wiki entry for EPHA1 Gene

Additional gene information for EPHA1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPHA1 Gene

Genomics for EPHA1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EPHA1 Gene

Promoters and enhancers for EPHA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH07I143407 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 557 +0.4 380 2.3 MEIS2 CTCF FOXA2 ETV1 SIN3A RAD21 CTBP1 POLR2A ZNF143 SMC3 EPHA1-AS1 EPHA1 OR2A13P
GH07I143410 Enhancer 0.7 Ensembl ENCODE 557.7 -1.9 -1912 1.6 ZFHX2 FOXA2 POLR2A ZNF341 MAX EGR2 EPHA1 EPHA1-AS1 TAS2R62P
GH07I143378 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.5 +22.7 22698 15.9 HDGF PKNOX1 FOXA2 SMAD1 ARNT MLX ARID4B SIN3A YBX1 ZNF2 ZYX CASP2 LOC154761 OR2A1 RN7SL535P EPHA1-AS1 EPHA1 TCAF2 HINT1P1 CLCN1
GH07I143374 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 16.4 +33.1 33097 3.2 MAX MYC EPHA1 EPHA1-AS1 FAM131B GSTK1 TCAF2 ZYX LOC101928397
GH07I143371 Enhancer 0.9 Ensembl ENCODE dbSUPER 15.6 +36.6 36627 1.1 CTCF ZNF776 POLR2A ZBTB48 MAX MYC GABPA EPHA1 EPHA1-AS1 ZYX FAM131B LOC101928397
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPHA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPHA1 gene promoter:

Genomic Locations for EPHA1 Gene

Genomic Locations for EPHA1 Gene
chr7:143,390,289-143,408,892
(GRCh38/hg38)
Size:
18,604 bases
Orientation:
Minus strand
chr7:143,087,382-143,105,985
(GRCh37/hg19)

Genomic View for EPHA1 Gene

Genes around EPHA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EPHA1 Gene

Proteins for EPHA1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for EPHA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21709-EPHA1_HUMAN
    Recommended name:
    Ephrin type-A receptor 1
    Protein Accession:
    P21709
    Secondary Accessions:
    • A1L3V3
    • B5A966
    • B5A967
    • Q15405

    Protein attributes for EPHA1 Gene

    Size:
    976 amino acids
    Molecular mass:
    108127 Da
    Quaternary structure:
    • Homodimer. Forms a signaling complex with LCK; PTK2B/PYK2 and PI3-kinase upon activation by EFNA1; regulates T-lymphocytes migration. Interacts (via SAM domain) with ILK (via ANK repeats); stimulated by EFNA1 but independent of the kinase activity of EPHA1. Interacts (kinase activity-dependent) with PTK2/FAK1.
    SequenceCaution:
    • Sequence=AAA36747.1; Type=Frameshift; Positions=582, 595, 601; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EPHA1 Gene

    Alternative splice isoforms for EPHA1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPHA1 Gene

Protein Expression for EPHA1 Gene

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

Selected DME Specific Peptides for EPHA1 Gene

P21709:
  • RDLAARN
  • RWTAPEAI
  • LAQFPDT
  • CKETFNL
  • YVHRDLAARNILVN
  • ALVSVRV
  • LPGHQKRI
  • TEFMENG

Post-translational modifications for EPHA1 Gene

Other Protein References for EPHA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EPHA1 (EphA1)

Domains & Families for EPHA1 Gene

Gene Families for EPHA1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for EPHA1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EPHA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P21709

UniProtKB/Swiss-Prot:

EPHA1_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
genes like me logo Genes that share domains with EPHA1: view

Function for EPHA1 Gene

Products:

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

Molecular function for EPHA1 Gene

GENATLAS Biochemistry:
EPH-related tyrosine kinase receptor 1,binding ephrin A1,expressed in projecting neurons and their target fields,involved in short-range contact-mediated axonal guidance
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot Function:
Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand. Upon activation by EFNA1 induces cell attachment to the extracellular matrix inhibiting cell spreading and motility through regulation of ILK and downstream RHOA and RAC. Plays also a role in angiogenesis and regulates cell proliferation. May play a role in apoptosis.

Enzyme Numbers (IUBMB) for EPHA1 Gene

Phenotypes From GWAS Catalog for EPHA1 Gene

Gene Ontology (GO) - Molecular Function for EPHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 12775584
GO:0004713 protein tyrosine kinase activity IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA --
GO:0005003 ephrin receptor activity IEA --
GO:0005005 transmembrane-ephrin receptor activity IDA 19118217
genes like me logo Genes that share ontologies with EPHA1: view
genes like me logo Genes that share phenotypes with EPHA1: view

Animal Models for EPHA1 Gene

MGI Knock Outs for EPHA1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPHA1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPHA1 Gene

Localization for EPHA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHA1 Gene

Cell membrane; Single-pass type I membrane protein.

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 EPHA1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EPHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 19118217
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with EPHA1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPHA1 Gene

Pathways & Interactions for EPHA1 Gene

genes like me logo Genes that share pathways with EPHA1: view

SIGNOR curated interactions for EPHA1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EPHA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001954 positive regulation of cell-matrix adhesion IDA 19118217
GO:0006468 protein phosphorylation IEA --
GO:0006469 negative regulation of protein kinase activity IDA 19118217
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with EPHA1: view

Drugs & Compounds for EPHA1 Gene

Products:

  1. Drug

(4) Drugs for EPHA1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist 0

(6) Additional Compounds for EPHA1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with EPHA1: view

Transcripts for EPHA1 Gene

Products:

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

mRNA/cDNA for EPHA1 Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(74) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPHA1 Gene

EPH receptor A1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPHA1

Alternative Splicing Database (ASD) splice patterns (SP) for EPHA1 Gene

No ASD Table

Relevant External Links for EPHA1 Gene

GeneLoc Exon Structure for
EPHA1
ECgene alternative splicing isoforms for
EPHA1

Expression for EPHA1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPHA1 Gene

mRNA expression in normal human tissues for EPHA1 Gene
mRNA expression by BioGPS for EPHA1 GenemRNA expression by GTEx for EPHA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPHA1 Gene

This gene is overexpressed in Esophagus - Mucosa (x14.3), Vagina (x5.9), Skin - Sun Exposed (Lower leg) (x4.5), and Skin - Not Sun Exposed (Suprapubic) (x4.4).

Protein differential expression in normal tissues from HIPED for EPHA1 Gene

This gene is overexpressed in Serum (32.6) and Urine (26.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EPHA1 Gene



Protein tissue co-expression partners for EPHA1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPHA1 Gene:

EPHA1

SOURCE GeneReport for Unigene cluster for EPHA1 Gene:

Hs.89839

mRNA Expression by UniProt/SwissProt for EPHA1 Gene:

P21709-EPHA1_HUMAN
Tissue specificity: Overexpressed in several carcinomas.

Evidence on tissue expression from TISSUES for EPHA1 Gene

  • Nervous system(4.5)
  • Heart(2.3)
  • Blood(2.2)
  • Lung(2.2)
  • Intestine(2.1)
  • Muscle(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with EPHA1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EPHA1 Gene

Orthologs for EPHA1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPHA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia EPHA1 33 34
  • 99.28 (n)
dog
(Canis familiaris)
 Mammalia EPHA1 33 34
  • 87.7 (n)
cow
(Bos Taurus)
 Mammalia EPHA1 33 34
  • 86.06 (n)
mouse
(Mus musculus)
 Mammalia Epha1 33 16 34
  • 85.55 (n)
rat
(Rattus norvegicus)
 Mammalia Epha1 33
  • 85.28 (n)
oppossum
(Monodelphis domestica)
 Mammalia EPHA1 34
  • 80 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves EPHA1 33 34
  • 66.1 (n)
lizard
(Anolis carolinensis)
 Reptilia EPHA1 34
  • 59 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Eph 34
  • 33 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 36 (a)
 ManyToMany
CSA.7809 34
  • 36 (a)
 ManyToMany
CSA.1664 34
  • 35 (a)
 ManyToMany
-- 34
  • 33 (a)
 ManyToMany
Species where no ortholog for EPHA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EPHA1 Gene

ENSEMBL:
Gene Tree for EPHA1 (if available)
TreeFam:
Gene Tree for EPHA1 (if available)

Paralogs for EPHA1 Gene

Paralogs for EPHA1 Gene

(15) SIMAP similar genes for EPHA1 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EPHA1: view

Variants for EPHA1 Gene

Sequence variations from dbSNP and Humsavar for EPHA1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
VAR_042119 A breast pleomorphic lobular carcinoma sample p.Glu703Lys
rs1000056958 -- 143,401,247(-) G/C intron_variant
rs1000282912 -- 143,392,928(-) C/T intron_variant
rs1000399540 -- 143,400,786(-) T/G intron_variant
rs1000411029 -- 143,392,736(-) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EPHA1 Gene

Variant ID Type Subtype PubMed ID
nsv517520 CNV loss 19592680
nsv608681 CNV loss 21841781
nsv949967 CNV deletion 24416366

Variation tolerance for EPHA1 Gene

Residual Variation Intolerance Score: 56% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.05; 75.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPHA1 Gene

Human Gene Mutation Database (HGMD)
EPHA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPHA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHA1 Gene

Disorders for EPHA1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for EPHA1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
placenta praevia
  • placenta previa
craniofrontonasal syndrome
  • cfns
good syndrome
  • thymoma with hypogammaglobulinemia
rh isoimmunization
  • rh incompatibility affecting management of mother
uterine anomalies
  • uterine disease
- elite association - COSMIC cancer census association via MalaCards
Search EPHA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPHA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EPHA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPHA1 Gene

Publications for EPHA1 Gene

  1. Unified nomenclature for Eph family receptors and their ligands, the ephrins. Eph Nomenclature Committee. (PMID: 9267020) (Cell 1997) 2 3 4 22 58
  2. EphA1 receptor silencing by small interfering RNA has antiangiogenic and antitumor efficacy in hepatocellular carcinoma. (PMID: 20043122) Chen G … Yu F (Oncology reports 2010) 3 4 22 58
  3. EphA1 interacts with integrin-linked kinase and regulates cell morphology and motility. (PMID: 19118217) Yamazaki T … Maru Y (Journal of cell science 2009) 3 4 22 58
  4. Spatial structure and pH-dependent conformational diversity of dimeric transmembrane domain of the receptor tyrosine kinase EphA1. (PMID: 18728013) Bocharov EV … Arseniev AS (The Journal of biological chemistry 2008) 3 4 22 58
  5. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. (PMID: 21460841) Naj AC … Schellenberg GD (Nature genetics 2011) 3 44 58

Products for EPHA1 Gene

  • Addgene plasmids for EPHA1

Sources for EPHA1 Gene

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