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EFNA5 ephrin A5 [ Homo sapiens (human) ]

Gene ID: 1946, updated on 8-Jul-2021

Summary

Official Symbol
EFNA5provided by HGNC
Official Full Name
ephrin A5provided by HGNC
Primary source
HGNC:HGNC:3225
See related
Ensembl:ENSG00000184349 MIM:601535
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
AF1; EFL5; RAGS; EPLG7; GLC1M; LERK7
Summary
Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). 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. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in skin (RPKM 2.4), brain (RPKM 1.7) and 22 other tissues See more
Orthologs
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Genomic context

See EFNA5 in Genome Data Viewer
Location:
5q21.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (107376889..107670937, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (106712595..107006638, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1950 Neighboring gene proteasome 26S subunit, ATPase 1 pseudogene 5 Neighboring gene Sharpr-MPRA regulatory region 13332 Neighboring gene VISTA enhancer hs1734 Neighboring gene ubiquitin specific peptidase 7 (herpes virus-associated) pseudogene Neighboring gene RNA, 7SL, cytoplasmic 782, pseudogene

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
GeneReviews: Not available
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
GeneReviews: Not available
Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ephrin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ephrin receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables neurotrophin TRKA receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
enables neurotrophin TRKB receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
enables neurotrophin TRKC receptor binding NAS
Non-traceable Author Statement
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase activator activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of transmembrane receptor protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
NOT involved_in apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ephrin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in ephrin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of substrate adhesion-dependent cell spreading IDA
Inferred from Direct Assay
more info
PubMed 
involved_in nervous system development TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein phosphorylation NAS
Non-traceable Author Statement
more info
PubMed 
involved_in regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of actin cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within regulation of cell morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of focal adhesion assembly IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of insulin secretion involved in cellular response to glucose stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of microtubule cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in anchored component of external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in anchored component of external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in caveola IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ephrin-A5
Names
AL-1
LERK-7
eph-related receptor tyrosine kinase ligand 7

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)

  1. NM_001962.3NP_001953.1  ephrin-A5 precursor

    See identical proteins and their annotated locations for NP_001953.1

    Status: REVIEWED

    Source sequence(s)
    AC008952, AC024587
    Consensus CDS
    CCDS4097.1
    UniProtKB/Swiss-Prot
    P52803
    Related
    ENSP00000328777.6, ENST00000333274.11
    Conserved Domains (1) summary
    cd10425
    Location:30159
    Ephrin-A_Ectodomain; Ectodomain of Ephrin A

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    107376889..107670937 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714565.3XP_006714628.1  ephrin-A5 isoform X2

    See identical proteins and their annotated locations for XP_006714628.1

    UniProtKB/TrEMBL
    D6RDV5
    Related
    ENSP00000426989.1, ENST00000509503.1
    Conserved Domains (1) summary
    cd10425
    Location:30159
    Ephrin-A_Ectodomain; Ectodomain of Ephrin A
  2. XM_017009205.1XP_016864694.1  ephrin-A5 isoform X3

    Conserved Domains (1) summary
    cl19115
    Location:179
    Cupredoxin; Cupredoxin superfamily
  3. XM_011543251.2XP_011541553.1  ephrin-A5 isoform X3

    See identical proteins and their annotated locations for XP_011541553.1

    Conserved Domains (1) summary
    cl19115
    Location:179
    Cupredoxin; Cupredoxin superfamily
  4. XM_011543250.3XP_011541552.1  ephrin-A5 isoform X1

    Conserved Domains (1) summary
    cd10425
    Location:24141
    Ephrin-A_Ectodomain; Ectodomain of Ephrin A
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