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    EPHB1 EPH receptor B1 [ Homo sapiens (human) ]

    Gene ID: 2047, updated on 11-Apr-2024

    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; AllianceGenome:HGNC:3392
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EPHB1 in Genome Data Viewer
    Location:
    3q22.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (134795260..135260467)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (137540631..138005927)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (134514102..134979309)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene centrosomal protein 63 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20567 Neighboring gene Sharpr-MPRA regulatory region 6102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20570 Neighboring gene RNA, U6 small nuclear 1174, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20572 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:134565355-134565854 Neighboring gene uncharacterized LOC105374121 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20575 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:134610984-134611623 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:134660519-134661204 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:134723970-134724470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:134724471-134724971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:134737937-134738437 Neighboring gene uncharacterized LOC102724019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20577 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:134968182-134968385 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:134976165-134976780 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:134976781-134977396 Neighboring gene uncharacterized LOC105374122 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:135171489-135171996 Neighboring gene Sharpr-MPRA regulatory region 765 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:135232323-135233522 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:135377721-135378306 Neighboring gene uncharacterized LOC105374123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20578

    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

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37986

    Gene Ontology Provided by GOA

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

    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
    tyrosine-protein kinase receptor EPH-2
    NP_004432.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      A8K593, B3KTB2, B5A969, O43569, O95142, O95143, P54762, Q0VG87
      UniProtKB/TrEMBL
      A0A3B3IRY8
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      134795260..135260467
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      137540631..138005927
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)