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EFNA1 ephrin A1 [ Homo sapiens (human) ]

Gene ID: 1942, updated on 7-Jan-2019

Summary

Official Symbol
EFNA1provided by HGNC
Official Full Name
ephrin A1provided by HGNC
Primary source
HGNC:HGNC:3221
See related
Ensembl:ENSG00000169242 MIM:191164
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
B61; EFL1; ECKLG; EPLG1; LERK1; LERK-1; TNFAIP4
Summary
This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]
Expression
Broad expression in placenta (RPKM 65.2), lung (RPKM 54.9) and 22 other tissues See more
Orthologs

Genomic context

See EFNA1 in Genome Data Viewer
Location:
1q22
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (155127873..155134910)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (155100349..155107386)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DCST1 antisense RNA 1 Neighboring gene ephrin A4 Neighboring gene ephrin A3 Neighboring gene solute carrier family 50 member 1 Neighboring gene dolichyl-phosphate mannosyltransferase subunit 3

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
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Arf6 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    Arf6 signaling events, organism-specific biosystem
    Arf6 signaling events
  • 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...
  • EPHA2 forward signaling, organism-specific biosystem (from Pathway Interaction Database)
    EPHA2 forward signaling, organism-specific biosystem
    EPHA2 forward signaling
  • HIF-2-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-2-alpha transcription factor network, organism-specific biosystem
    HIF-2-alpha transcription factor network
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem (from Pathway Interaction Database)
    Stabilization and expansion of the E-cadherin adherens junction, organism-specific biosystem
    Stabilization and expansion of the E-cadherin adherens junction

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ephrin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ephrin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
aortic valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell migration IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
endocardial cushion to mesenchymal transition involved in heart valve formation ISS
Inferred from Sequence or Structural Similarity
more info
 
ephrin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ephrin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
ephrin receptor signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
mitral valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
negative regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of proteolysis involved in cellular protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of thymocyte apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
notochord formation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
positive regulation of amyloid-beta formation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein phosphorylation IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of protein tyrosine kinase activity IGI
Inferred from Genetic Interaction
more info
PubMed 
protein stabilization IGI
Inferred from Genetic Interaction
more info
PubMed 
regulation of angiogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of axonogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of blood vessel endothelial cell migration IEA
Inferred from Electronic Annotation
more info
 
regulation of cell adhesion mediated by integrin IDA
Inferred from Direct Assay
more info
PubMed 
regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
substrate adhesion-dependent cell spreading IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
anchored component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ephrin-A1
Names
TNF alpha-induced protein 4
eph-related receptor tyrosine kinase ligand 1
epididymis secretory sperm binding protein
immediate early response protein B61
ligand of eph-related kinase 1
tumor necrosis factor, alpha-induced protein 4

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_004428.3NP_004419.2  ephrin-A1 isoform a precursor

    See identical proteins and their annotated locations for NP_004419.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AK057845, AL833641, AW274944, M57730
    Consensus CDS
    CCDS1091.1
    UniProtKB/Swiss-Prot
    P20827
    Related
    ENSP00000357392.3, ENST00000368407.7
    Conserved Domains (1) summary
    cd10425
    Location:19148
    Ephrin-A_Ectodomain; Ectodomain of Ephrin A
  2. NM_182685.1NP_872626.1  ephrin-A1 isoform b precursor

    See identical proteins and their annotated locations for NP_872626.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame segment, compared to variant 1. The resulting protein (isoform b) is shorter when compared to isoform a.
    Source sequence(s)
    AK057845, AL833641, AW274944
    Consensus CDS
    CCDS1092.1
    UniProtKB/Swiss-Prot
    P20827
    Related
    ENSP00000357391.2, ENST00000368406.2
    Conserved Domains (1) summary
    cd10425
    Location:19142
    Ephrin-A_Ectodomain; Ectodomain of Ephrin A

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_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    155127873..155134910
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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