EPHB1 EPH receptor B1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

Location:: 3q22.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (134795260..135260467)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (137540631..138005927)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (134514102..134979309)

Chromosome 3 - NC_000003.12 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?

Recurring EPHB1 mutations in human cancers alter receptor signalling and compartmentalisation of colorectal cancer cells.
Title: Recurring EPHB1 mutations in human cancers alter receptor signalling and compartmentalisation of colorectal cancer cells.
Identification of tetracycline combinations as EphB1 tyrosine kinase inhibitors for treatment of neuropathic pain.
Title: Identification of tetracycline combinations as EphB1 tyrosine kinase inhibitors for treatment of neuropathic pain.
Peripheral EphrinB1/EphB1 signalling attenuates muscle hyperalgesia in MPS patients and a rat model of taut band-associated persistent muscle pain.
Title: Peripheral EphrinB1/EphB1 signalling attenuates muscle hyperalgesia in MPS patients and a rat model of taut band-associated persistent muscle pain.
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.
SUMOylation of EphB1 repressed activation of its downstream signaling molecule PKC-gamma, and consequently inhibited neuroblastoma tumorigenesis.
Title: Sumoylation of EphB1 Suppresses Neuroblastoma Tumorigenesis via Inhibiting PKCγ Activation.
investigate NET could modulate one's attention orientation to facial expressions, we categorized individuals according to the genotypes of the -182 T/C (rs2242446) polymorphism. Our results indicated that the -182 T/C polymorphism significantly modulated attention orientation to facial expressions, of which the CC genotype facilitated attention reorientation to the locations where cued faces were previously presented.
Title: Investigating the genetic basis of attention to facial expressions: the role of the norepinephrine transporter gene.
some of the mutations found in EPHB1 may contribute to an increased invasive capacity of cancers.
Title: Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.
Association of EPHB1 rs11918092 with symptoms of schizophrenia in Chinese Zhuang and Han populations.
Title: Association of EPHB1 rs11918092 and EFNB2 rs9520087 with psychopathological symptoms of schizophrenia in Chinese Zhuang and Han populations.
The tumor-suppressor function of EphB1 is clinically relevant across many malignancies, suggesting that EphB1 is an important regulator of common cancer cell transforming pathways.
Title: EphB1 Suppression in Acute Myelogenous Leukemia: Regulating the DNA Damage Control System.
In medulloblastoma cell lines, EphB1 downregulation or knockdown reduced cell growth, viability, cell-cycle regulator expression, and migration, but increased radiosensitivity and the percentage of cells in G1 phase of the cell cycle.
Title: Knockdown of EphB1 receptor decreases medulloblastoma cell growth and migration and increases cellular radiosensitization.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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

G64902 (e-PCR)
- UniSTS:164885

SHGC-78165 (e-PCR)
- UniSTS:101195

SHGC-132302 (e-PCR)
- UniSTS:183653

D3S3641 (e-PCR), detects polymorphism
- UniSTS:69238

G09515 (e-PCR)
- UniSTS:4736

D3S3696 (e-PCR), detects polymorphism
- UniSTS:55682

RH118892 (e-PCR)
- UniSTS:138883

G19166 (e-PCR)
- UniSTS:73127

WI-16892 (e-PCR)
- UniSTS:39853

SHGC-148306 (e-PCR)
- UniSTS:176311

D3S1590 (e-PCR), detects polymorphism
- UniSTS:33976

G09350 (e-PCR)
- UniSTS:71125

EPHB1_198 (e-PCR)
- UniSTS:277211

RH65591 (e-PCR)
- UniSTS:38114

SHGC-1723 (e-PCR)
- UniSTS:88046

SHGC-106261 (e-PCR)
- UniSTS:169721

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 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 more info	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

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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

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_004441.5 → NP_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:614 → 882

PTKc_EphR_B; Catalytic domain of the Protein Tyrosine Kinases, Class EphB Ephrin Receptors

cd09551
Location:908 → 975

SAM_EPH-B1; SAM domain of EPH-B1 subfamily of tyrosine kinase receptors

smart00454
Location:908 → 973

SAM; Sterile alpha motif

cd10476
Location:20 → 195

EphR_LBD_B1; Ligand Binding Domain of Ephrin type-B Receptor 1

cd00063
Location:323 → 429

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:435 → 518

fn3; Fibronectin type III domain

pfam07714
Location:619 → 878

Pkinase_Tyr; Protein tyrosine kinase

pfam14575
Location:546 → 614

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain