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EPHB1 EPH receptor B1 [ Homo sapiens (human) ]

Gene ID: 2047, updated on 17-Jun-2019

Summary

Official Symbol
EPHB1provided by HGNC
Official Full Name
EPH receptor B1provided by HGNC
Primary source
HGNC:HGNC:3392
See related
Ensembl:ENSG00000154928 MIM:600600
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
ELK; NET; Hek6; EPHT2
Summary
Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. 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 divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]
Expression
Biased expression in brain (RPKM 6.3), testis (RPKM 3.5) and 8 other tissues See more
Orthologs

Genomic context

See EPHB1 in Genome Data Viewer
Location:
3q22.2
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (134595264..135260467)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (134514099..134979309)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene developmental pluripotency associated 4 pseudogene Neighboring gene anaphase promoting complex subunit 13 Neighboring gene centrosomal protein 63 Neighboring gene kyphoscoliosis peptidase Neighboring gene RNA, U6 small nuclear 1174, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 141 Neighboring gene uncharacterized LOC105374121 Neighboring gene uncharacterized LOC105374120 Neighboring gene uncharacterized LOC102724019 Neighboring gene uncharacterized LOC105374122 Neighboring gene uncharacterized LOC105374123

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 for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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...
  • EPHB forward signaling, organism-specific biosystem (from Pathway Interaction Database)
    EPHB forward signaling, organism-specific biosystem
    EPHB forward signaling
  • EPHB-mediated forward signaling, organism-specific biosystem (from REACTOME)
    EPHB-mediated forward signaling, organism-specific biosystemMultiple EPHB receptors contribute directly to dendritic spine development and morphogenesis. These are more broadly involved in post-synaptic development through activation of focal adhesion kinase ...
  • Ephrin B reverse signaling, organism-specific biosystem (from Pathway Interaction Database)
    Ephrin B reverse signaling, organism-specific biosystem
    Ephrin B reverse signaling
  • Ephrin signaling, organism-specific biosystem (from REACTOME)
    Ephrin signaling, organism-specific biosystemThe interaction between ephrin (EFN) ligands and EPH receptors results not only in forward signaling through the EPH receptor, but also in 'reverse' signaling through the EFN ligand itself. Reverse s...
  • EphrinB-EPHB pathway, organism-specific biosystem (from Pathway Interaction Database)
    EphrinB-EPHB pathway, organism-specific biosystem
    EphrinB-EPHB pathway

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ37986

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
axon guidance receptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane-ephrin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane-ephrin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
camera-type eye morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
cell-substrate adhesion IDA
Inferred from Direct Assay
more info
PubMed 
central nervous system projection neuron axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine development ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
detection of temperature stimulus involved in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 
ephrin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
establishment of cell polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
immunological synapse formation IEA
Inferred from Electronic Annotation
more info
 
modulation of chemical synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
negative regulation of satellite cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of skeletal muscle satellite cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
neural precursor cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
optic nerve morphogenesis IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of synapse assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
regulation of JNK cascade IDA
Inferred from Direct Assay
more info
PubMed 
regulation of neuron death IMP
Inferred from Mutant Phenotype
more info
PubMed 
retinal ganglion cell axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle satellite cell activation ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axon IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendrite IEA
Inferred from Electronic Annotation
more info
 
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
filopodium tip IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ephrin type-B receptor 1
Names
EK6
EPH-like kinase 6
eph tyrosine kinase 2
neuronally-expressed EPH-related tyrosine kinase
soluble EPHB1 variant 1
tyrosine-protein kinase receptor EPH-2
NP_004432.1
XP_016861355.1
XP_016861356.1
XP_024309157.1
XP_024309158.1

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_004441.5NP_004432.1  ephrin type-B receptor 1 precursor

    See identical proteins and their annotated locations for NP_004432.1

    Status: REVIEWED

    Source sequence(s)
    AC016931, AC016951, AC073244, AC092969
    Consensus CDS
    CCDS46921.1
    UniProtKB/Swiss-Prot
    P54762
    Related
    ENSP00000381097.3, ENST00000398015.8
    Conserved Domains (8) summary
    cd05065
    Location:614882
    PTKc_EphR_B; Catalytic domain of the Protein Tyrosine Kinases, Class EphB Ephrin Receptors
    cd09551
    Location:908975
    SAM_EPH-B1; SAM domain of EPH-B1 subfamily of tyrosine kinase receptors
    smart00454
    Location:908973
    SAM; Sterile alpha motif
    cd10476
    Location:20195
    EphR_LBD_B1; Ligand Binding Domain of Ephrin type-B Receptor 1
    cd00063
    Location:323429
    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:435518
    fn3; Fibronectin type III domain
    pfam07714
    Location:619878
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:546614
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

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.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    134595264..135260467
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453390.1XP_024309158.1  ephrin type-B receptor 1 isoform X3

    Conserved Domains (6) summary
    cd05065
    Location:646914
    PTKc_EphR_B; Catalytic domain of the Protein Tyrosine Kinases, Class EphB Ephrin Receptors
    cd09551
    Location:9401007
    SAM_EPH-B1; SAM domain of EPH-B1 subfamily of tyrosine kinase receptors
    cd10476
    Location:1173
    EphR_LBD_B1; Ligand Binding Domain of Ephrin type-B Receptor 1
    cd00063
    Location:301407
    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:467550
    fn3; Fibronectin type III domain
    pfam14575
    Location:578646
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
  2. XM_024453389.1XP_024309157.1  ephrin type-B receptor 1 isoform X3

    Conserved Domains (6) summary
    cd05065
    Location:646914
    PTKc_EphR_B; Catalytic domain of the Protein Tyrosine Kinases, Class EphB Ephrin Receptors
    cd09551
    Location:9401007
    SAM_EPH-B1; SAM domain of EPH-B1 subfamily of tyrosine kinase receptors
    cd10476
    Location:1173
    EphR_LBD_B1; Ligand Binding Domain of Ephrin type-B Receptor 1
    cd00063
    Location:301407
    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:467550
    fn3; Fibronectin type III domain
    pfam14575
    Location:578646
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
  3. XM_017005866.2XP_016861355.1  ephrin type-B receptor 1 isoform X1

  4. XM_017005867.1XP_016861356.1  ephrin type-B receptor 1 isoform X2

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