Human Gene EPHA1 (uc003wcz.3) Description and Page Index
Description: Homo sapiens EPH receptor A1 (EPHA1), mRNA. RefSeq Summary (NM_005232): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK290351.1, M18391.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000275815.4/ ENSP00000275815.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr7:143,088,205-143,105,985 Size: 17,781 Total Exon Count: 18 Strand: - Coding Region Position: hg19 chr7:143,088,550-143,105,898 Size: 17,349 Coding Exon Count: 18
ID:EPHA1_HUMAN DESCRIPTION: RecName: Full=Ephrin type-A receptor 1; Short=hEpha1; EC=220.127.116.11; AltName: Full=EPH tyrosine kinase; AltName: Full=EPH tyrosine kinase 1; AltName: Full=Erythropoietin-producing hepatoma receptor; AltName: Full=Tyrosine-protein kinase receptor EPH; Flags: Precursor; 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. CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate. SUBUNIT: 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. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Overexpressed in several carcinomas. PTM: Phosphorylated. Autophosphorylation is stimulated by its ligand EFNA1. SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. SIMILARITY: Contains 1 Eph LBD (Eph ligand-binding) domain. SIMILARITY: Contains 2 fibronectin type-III domains. SIMILARITY: Contains 1 protein kinase domain. SIMILARITY: Contains 1 SAM (sterile alpha motif) domain. SEQUENCE CAUTION: Sequence=AAA36747.1; Type=Frameshift; Positions=582, 595, 601; WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/EPHA1ID40461ch7q35.html";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): EPHA1 CDC HuGE Published Literature: EPHA1 Positive Disease Associations: Alzheimer Disease Related Studies:
Alzheimer Disease Adam C Naj et al. Nature genetics 2011, Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease., Nature genetics.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P21709
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.