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    Eps8l1 EPS8-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 67425, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Eps8l1provided by MGI
    Official Full Name
    EPS8-like 1provided by MGI
    Primary source
    MGI:MGI:1914675
    See related
    Ensembl:ENSMUSG00000006154 AllianceGenome:MGI:1914675
    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
    Also known as
    DRC3; EPS8R1; 2310051G19Rik; 4632407K17Rik
    Summary
    Predicted to enable T cell receptor binding activity and actin filament binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Predicted to be involved in Rho protein signal transduction; positive regulation of ruffle assembly; and regulation of Rho protein signal transduction. Predicted to act upstream of or within Rac protein signal transduction. Predicted to be located in cytosol and ruffle. Predicted to be part of protein-containing complex. Predicted to be active in ruffle membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; immune system; and respiratory system. Orthologous to human EPS8L1 (EPS8 signaling adaptor L1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in stomach adult (RPKM 7.6), lung adult (RPKM 7.2) and 19 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Eps8l1 in Genome Data Viewer
    Location:
    7 A1; 7 2.58 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (4463636..4483486)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (4460638..4480487)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene glycoprotein 6 platelet Neighboring gene ATPase, H+ transporting, lysosomal V0 subunit C, pseudogene 1 Neighboring gene STARR-positive B cell enhancer ABC_E1718 Neighboring gene retinol dehydrogenase 13 (all-trans and 9-cis) Neighboring gene STARR-positive B cell enhancer ABC_E9682 Neighboring gene RIKEN cDNA D630041G03 gene Neighboring gene protein phosphatase 1, regulatory subunit 12C Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:4461475-4461662 Neighboring gene troponin T1, skeletal, slow

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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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    Related articles in PubMed

    1. Eps8 controls actin-based motility by capping the barbed ends of actin filaments. Disanza A, et al. Nat Cell Biol, 2004 Dec. PMID 15558031
    2. In silico analysis of the EPS8 gene family: genomic organization, expression profile, and protein structure. Tocchetti A, et al. Genomics, 2003 Feb. PMID 12620401
    3. The eps8 family of proteins links growth factor stimulation to actin reorganization generating functional redundancy in the Ras/Rac pathway. Offenhäuser N, et al. Mol Biol Cell, 2004 Jan. PMID 14565974, Free PMC Article
    4. Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice. Jung H, et al. Nat Neurosci, 2018 Sep. PMID 30104731
    5. Novel protein interactions with endoglin and activin receptor-like kinase 1: potential role in vascular networks. Xu G, et al. Mol Cell Proteomics, 2014 Feb. PMID 24319055, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (3) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables T cell receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables actin filament binding ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    contributes_to guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within Rac protein signal transduction ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    involved_in Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Rho protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of ruffle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of ruffle assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of Rho protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ruffle ISA
    Inferred from Sequence Alignment
    more info
    		 PubMed 
    is_active_in ruffle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ruffle membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    epidermal growth factor receptor kinase substrate 8-like protein 1
    Names
    EPS8-like protein 1
    EPS8-related protein 1
    epidermal growth factor receptor pathway substrate 8-related protein 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)

    1. NM_001290416.1 → NP_001277345.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_001277345.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and has multiple coding region differences, compared to variant 3. These differences cause translation initiation at a downstream AUG and result in an isoform (1) with a shorter N-terminus, compared to isoform 2.
      Source sequence(s)
      AC161218, AK014556, AK019490
      Consensus CDS
      CCDS20736.1
      UniProtKB/Swiss-Prot
      Q8R0D6, Q8R5F8, Q9D2M6
      Related
      ENSMUSP00000125840.2, ENSMUST00000163893.8
      Conserved Domains (4) summary
      cd09540
      Location:622 → 687
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:481 → 533
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      COG5373
      Location:159 → 246
      COG5373; Uncharacterized membrane protein [Function unknown]
      cd01210
      Location:32 → 162
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    2. NM_001374622.1 → NP_001361551.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longer isoform (2).
      Source sequence(s)
      AC161218
      Consensus CDS
      CCDS90151.1
      UniProtKB/TrEMBL
      E9Q4X5
      Related
      ENSMUSP00000133206.2, ENSMUST00000171445.8
      Conserved Domains (4) summary
      cd09540
      Location:683 → 748
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:542 → 594
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      COG5373
      Location:220 → 307
      COG5373; Uncharacterized membrane protein [Function unknown]
      cd01210
      Location:93 → 223
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    3. NM_026146.4 → NP_080422.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_080422.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 3. These differences cause translation initiation at a downstream AUG and result in an isoform (1) with a shorter N-terminus, compared to isoform 2.
      Source sequence(s)
      AC161218, AK009930, AK019490
      Consensus CDS
      CCDS20736.1
      UniProtKB/Swiss-Prot
      Q8R0D6, Q8R5F8, Q9D2M6
      Related
      ENSMUSP00000083559.2, ENSMUST00000086372.8
      Conserved Domains (4) summary
      cd09540
      Location:622 → 687
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:481 → 533
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      COG5373
      Location:159 → 246
      COG5373; Uncharacterized membrane protein [Function unknown]
      cd01210
      Location:32 → 162
      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

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      4463636..4483486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540324.3 → XP_006540387.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006540387.1

      UniProtKB/Swiss-Prot
      Q8R0D6, Q8R5F8, Q9D2M6
      Conserved Domains (4) summary
      cd09540
      Location:622 → 687
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:481 → 533
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      COG5373
      Location:159 → 246
      COG5373; Uncharacterized membrane protein [Function unknown]
      cd01210
      Location:32 → 162
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    2. XM_017312258.1 → XP_017167747.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q8R0D6, Q8R5F8, Q9D2M6
      Conserved Domains (4) summary
      cd09540
      Location:622 → 687
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:481 → 533
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      COG5373
      Location:159 → 246
      COG5373; Uncharacterized membrane protein [Function unknown]
      cd01210
      Location:32 → 162
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    3. XM_006540325.4 → XP_006540388.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006540388.1

      UniProtKB/Swiss-Prot
      Q8R0D6, Q8R5F8, Q9D2M6
      Conserved Domains (4) summary
      cd09540
      Location:622 → 687
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:481 → 533
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      COG5373
      Location:159 → 246
      COG5373; Uncharacterized membrane protein [Function unknown]
      cd01210
      Location:32 → 162
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    4. XM_006540326.2 → XP_006540389.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X1

      See identical proteins and their annotated locations for XP_006540389.1

      UniProtKB/Swiss-Prot
      Q8R0D6, Q8R5F8, Q9D2M6
      Conserved Domains (4) summary
      cd09540
      Location:622 → 687
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:481 → 533
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      COG5373
      Location:159 → 246
      COG5373; Uncharacterized membrane protein [Function unknown]
      cd01210
      Location:32 → 162
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    RNA

    1. XR_391096.4 RNA Sequence

    2. XR_003946549.2 RNA Sequence

    3. XR_391095.5 RNA Sequence

    4. XR_003946548.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R5F8.1 GenPept UniProtKB/Swiss-Prot:Q8R5F8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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