EPHA1 EPH receptor A1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alzheimer's disease-associated P460L variant of EphA1 dysregulates receptor activity and blood-brain barrier function.
Title: Alzheimer's disease-associated P460L variant of EphA1 dysregulates receptor activity and blood-brain barrier function.
The EphA1 and EphA2 Signaling Modulates the Epithelial Permeability in Human Sinonasal Epithelial Cells and the Rhinovirus Infection Induces Epithelial Barrier Dysfunction via EphA2 Receptor Signaling.
Title: The EphA1 and EphA2 Signaling Modulates the Epithelial Permeability in Human Sinonasal Epithelial Cells and the Rhinovirus Infection Induces Epithelial Barrier Dysfunction via EphA2 Receptor Signaling.
EphA1 receptor tyrosine kinase is localized to the nucleus in rhabdomyosarcoma from multiple species.
Title: EphA1 receptor tyrosine kinase is localized to the nucleus in rhabdomyosarcoma from multiple species.
Expression of cancer stem cell markers CD24, EPHA1 and CD9 and their correlation with clinical outcome in epithelial ovarian tumours.
Title: Expression of cancer stem cell markers CD24, EPHA1 and CD9 and their correlation with clinical outcome in epithelial ovarian tumours.
Association Between EphA1 and Tumor Microenvironment in Gastric Carcinoma and its Clinical Significance.
Title: Association Between EphA1 and Tumor Microenvironment in Gastric Carcinoma and its Clinical Significance.
SOCS2 affects the proliferation, migration and invasion of nasopharyngeal carcinoma cells via regulating EphA1.
Title: SOCS2 affects the proliferation, migration and invasion of nasopharyngeal carcinoma cells via regulating EphA1.
ABCA7 and EphA1 Genes Polymorphisms in Late-Onset Alzheimer's Disease.
Title: ABCA7 and EphA1 Genes Polymorphisms in Late-Onset Alzheimer's Disease.
EphB1 and EphA1 phosphorylate the Cx32CT domain residue Tyr(243) Unlike for Cx43, the tyrosine phosphorylation of the Cx32CT increased gap junction intercellular communication.
Title: Regulation of Connexin32 by ephrin receptors and T-cell protein-tyrosine phosphatase.
The rs11767557 variant could significantly regulate EPHA1 gene expression specifically in human whole blood. These findings may further provide important supplementary information about the regulating mechanisms of rs11767557 variant in Alzheimer's disease risk.
Title: Alzheimer's Disease rs11767557 Variant Regulates EPHA1 Gene Expression Specifically in Human Whole Blood.
EphA1 expression is decreased in ovarian serous carcinoma compared with normal fallopian tube and benign ovarian serous cystadenoma. Decreased EphA1 expression was more often detected in high-grade tumors.
Title: Decreased Eph receptor‑A1 expression is related to grade in ovarian serous carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH102690 (e-PCR)
- UniSTS:97024

RH12060 (e-PCR)
- UniSTS:17691

G10664 (e-PCR)
- UniSTS:55369

D20S1007 (e-PCR)
- UniSTS:33416

RH47177 (e-PCR)
- UniSTS:57500

RH69086 (e-PCR)
- UniSTS:91636

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables fibronectin binding	IDA Inferred from Direct Assay more info	PubMed
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 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

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in angiogenesis	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 ephrin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor 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 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

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

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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

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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)

NM_005232.5 → NP_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:912 → 974

SAM_EPH-A1; SAM domain of EPH-A1 subfamily of tyrosine kinase receptors

smart00454
Location:911 → 976

SAM; Sterile alpha motif

cd10479
Location:27 → 203

EphR_LBD_A1; Ligand Binding Domain of Ephrin type-A Receptor 1

cd00063
Location:453 → 535

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:334 → 431

fn3; Fibronectin type III domain

pfam07714
Location:624 → 880

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:619 → 884

PKc_like; Protein Kinases, catalytic domain