Eps8 epidermal growth factor receptor pathway substrate 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Eps8provided by MGI
Official Full Name: epidermal growth factor receptor pathway substrate 8provided by MGI
Primary source: MGI:MGI:104684
See related: Ensembl:ENSMUSG00000015766 AllianceGenome:MGI:104684
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables actin binding activity and small GTPase binding activity. Involved in several processes, including Rac protein signal transduction; actin filament organization; and barbed-end actin filament capping. Acts upstream of or within several processes, including actin cytoskeleton reorganization; behavioral response to ethanol; and cellular response to leukemia inhibitory factor. Located in several cellular components, including brush border; ruffle membrane; and stereocilium tip. Part of NMDA selective glutamate receptor complex. Is expressed in several structures, including adrenal gland; alimentary system; bone; brain; and metanephros. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 102. Orthologous to human EPS8 (epidermal growth factor receptor pathway substrate 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in colon adult (RPKM 16.0), large intestine adult (RPKM 15.7) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 G1; 6 66.78 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (137454242..137626262, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (137477245..137649397, complement)

Chromosome 6 - NC_000072.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Chlamydia repurposes the actin-binding protein EPS8 to disassemble epithelial tight junctions and promote infection.
Title: Chlamydia repurposes the actin-binding protein EPS8 to disassemble epithelial tight junctions and promote infection.
EPS8 regulates an NLRP3 inflammasome-independent caspase-1 activation pathway in monosodium urate crystal-treated RAW264.7 macrophages.
Title: EPS8 regulates an NLRP3 inflammasome-independent caspase-1 activation pathway in monosodium urate crystal-treated RAW264.7 macrophages.
Scrutinized the motility of Hnrnpab(-/-) cells and confirmed that the decreases in both cell motility and Eps8 are restored by ectopically coexpressing both alternatively spliced Hnrnpab isoforms, therefore these variants are surprisingly nonredundant for cell motility.
Title: Hnrnpab regulates neural cell motility through transcription of Eps8.
Absence of Eps8 produces a weaker phenotype in vestibular hair cells compared to cochlear inner hair cells, since it affects the hair bundle morphology but not the basolateral membrane currents. This difference is likely to explain the absence of obvious vestibular dysfunction in Eps8 knockout mice.
Title: Distinct roles of Eps8 in the maturation of cochlear and vestibular hair cells.
Results implicate N-methyl-d-aspartate receptor hyperfunction in the cognitive deficits observed in Epidermal growth factor receptor substrate 8 (Eps8) knockout mice and demonstrate a novel role for Eps8 in regulating hippocampal long-term synaptic plasticity and cognitive function.
Title: Conditional deletion of Eps8 reduces hippocampal synaptic plasticity and impairs cognitive function.
These findings demonstrate a novel role for Wnt-Dvl1 signalling through Eps8 in the regulation of axonal remodeling.
Title: Wnt Signalling Promotes Actin Dynamics during Axon Remodelling through the Actin-Binding Protein Eps8.
It shows that EPS8, a signaling adapter regulating actin dynamics, is a novel partner of VE-cadherin and is able to modulate YAP activity.
Title: The actin-binding protein EPS8 binds VE-cadherin and modulates YAP localization and signaling.
The actin-binding proteins eps8 and gelsolin have complementary roles in regulating the growth and stability of mechanosensory hair bundles of mammalian cochlear outer hair cells.
Title: The actin-binding proteins eps8 and gelsolin have complementary roles in regulating the growth and stability of mechanosensory hair bundles of mammalian cochlear outer hair cells.
These results reveal a previously unknown cell type-specific expression pattern of endogenous Eps8 protein in the mouse hippocampus.
Title: Cell type-specific expression of Eps8 in the mouse hippocampus.
the key role of Eps8 actin-capping activity in spine morphogenesis and plasticity and indicate that reductions in actin-capping proteins may characterize forms of intellectual disabilities associated with spine defects.
Title: Eps8 controls dendritic spine density and synaptic plasticity through its actin-capping activity.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW261790 (e-PCR)
- UniSTS:179482

NoName (e-PCR)
- UniSTS:235568

L21671 (e-PCR)
- UniSTS:159581

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin crosslink formation	IDA Inferred from Direct Assay more info	PubMed
involved_in actin crosslink formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin filament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within actin filament bundle assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in actin filament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin polymerization-dependent cell motility	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in barbed-end actin filament capping	IDA Inferred from Direct Assay more info	PubMed
involved_in barbed-end actin filament capping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within behavioral response to ethanol	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in dendritic cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in exit from mitosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ruffle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of actin filament length	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cell shape	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	EXP Inferred from Experiment more info	PubMed
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
part_of NMDA selective glutamate receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in brush border	IDA Inferred from Direct Assay more info	PubMed
located_in cell cortex	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in glutamatergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info
is_active_in ruffle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in ruffle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium bundle	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium tip	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: epidermal growth factor receptor kinase substrate 8

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_001271587.2 → NP_001258516.1 epidermal growth factor receptor kinase substrate 8 isoform 2

See identical proteins and their annotated locations for NP_001258516.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) contains a distinct 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The resulting isoform (2) has a distinct N-terminus and is longer than isoform 1.

Source sequence(s)

AC093120, AC166347

UniProtKB/TrEMBL

Q3U2Z5

Conserved Domains (3) summary

cd09540
Location:745 → 809

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:560 → 613

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

cd01210
Location:90 → 217

PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
NM_001271588.2 → NP_001258517.1 epidermal growth factor receptor kinase substrate 8 isoform 1

See identical proteins and their annotated locations for NP_001258517.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 6 all encode the same isoform (1).

Source sequence(s)

AC093120, AC166347

Consensus CDS

CCDS20665.1

UniProtKB/Swiss-Prot

Q08509, Q3TM41

Related

ENSMUSP00000107509.2, ENSMUST00000111878.8

Conserved Domains (3) summary

cd09540
Location:719 → 783

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:534 → 587

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

cd01210
Location:64 → 191

PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
NM_001271589.2 → NP_001258518.1 epidermal growth factor receptor kinase substrate 8 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (5) contains a distinct 5' UTR, initiates translation at a downstream start codon and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 5, 8, and 9 all encode the same isoform (3).

Source sequence(s)

AC093120

UniProtKB/TrEMBL

Q3TMV3

Conserved Domains (2) summary

cd09540
Location:459 → 523

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:274 → 327

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
NM_001271595.2 → NP_001258524.1 epidermal growth factor receptor kinase substrate 8 isoform 1

See identical proteins and their annotated locations for NP_001258524.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 6 all encode the same isoform (1).

Source sequence(s)

AC093120, AC166347

Consensus CDS

CCDS20665.1

UniProtKB/Swiss-Prot

Q08509, Q3TM41

Related

ENSMUSP00000098402.3, ENSMUST00000100841.9

Conserved Domains (3) summary

cd09540
Location:719 → 783

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:534 → 587

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

cd01210
Location:64 → 191

PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
NM_001409747.1 → NP_001396676.1 epidermal growth factor receptor kinase substrate 8 isoform 1

Status: VALIDATED

Source sequence(s)

AC093120, AC166347

UniProtKB/Swiss-Prot

Q08509, Q3TM41
NM_001409750.1 → NP_001396679.1 epidermal growth factor receptor kinase substrate 8 isoform 4

Status: VALIDATED

Source sequence(s)

AC093120, AC166347
NM_001409751.1 → NP_001396680.1 epidermal growth factor receptor kinase substrate 8 isoform 4

Status: VALIDATED

Source sequence(s)

AC093120, AC166347
NM_001409752.1 → NP_001396681.1 epidermal growth factor receptor kinase substrate 8 isoform 3

Status: VALIDATED

Source sequence(s)

AC093120
NM_001409757.1 → NP_001396686.1 epidermal growth factor receptor kinase substrate 8 isoform 5

Status: VALIDATED

Source sequence(s)

AC093120
NM_007945.4 → NP_031971.2 epidermal growth factor receptor kinase substrate 8 isoform 1

See identical proteins and their annotated locations for NP_031971.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2, 3, and 6 all encode the same isoform (1).

Source sequence(s)

AC093120, AC166347

Consensus CDS

CCDS20665.1

UniProtKB/Swiss-Prot

Q08509, Q3TM41

Related

ENSMUSP00000052776.7, ENSMUST00000058210.13

Conserved Domains (3) summary

cd09540
Location:719 → 783

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:534 → 587

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

cd01210
Location:64 → 191

PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

137454242..137626262 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030255145.1 → XP_030111005.1 epidermal growth factor receptor kinase substrate 8 isoform X1

UniProtKB/Swiss-Prot

Q08509, Q3TM41

Conserved Domains (3) summary

cd09540
Location:719 → 783

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:534 → 587

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

cd01210
Location:64 → 191

PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
XM_011241204.2 → XP_011239506.1 epidermal growth factor receptor kinase substrate 8 isoform X1

See identical proteins and their annotated locations for XP_011239506.1

UniProtKB/Swiss-Prot

Q08509, Q3TM41

Conserved Domains (3) summary

cd09540
Location:719 → 783

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:534 → 587

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

cd01210
Location:64 → 191

PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain