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    EPS8L1 EPS8 signaling adaptor L1 [ Homo sapiens (human) ]

    Gene ID: 54869, updated on 2-Nov-2024

    Summary

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    Official Symbol
    EPS8L1provided by HGNC
    Official Full Name
    EPS8 signaling adaptor L1provided by HGNC
    Primary source
    HGNC:HGNC:21295
    See related
    Ensembl:ENSG00000131037 MIM:614987; AllianceGenome:HGNC:21295
    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
    DRC3; EPS8R1; PP10566
    Summary
    This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in esophagus (RPKM 25.5), skin (RPKM 19.7) and 12 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EPS8L1 in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (55075869..55087923)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (58170549..58182414)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (55587237..55599291)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene GP6 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55526346-55526910 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527390-55527890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55527891-55528391 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55538985-55539689 Neighboring gene glycoprotein VI platelet Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55555893-55556394 Neighboring gene retinol dehydrogenase 13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55572859-55573826 Neighboring gene MPRA-validated peak3563 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55587691-55588416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55591665-55592622 Neighboring gene Sharpr-MPRA regulatory region 11471 Neighboring gene protein phosphatase 1 regulatory subunit 12C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55624596-55625222 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:55625223-55625849 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:55627401-55628236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11013 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15076 Neighboring gene microRNA 7975

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. [Cloning and expression analyses of down-regulated cDNA C6-2A in human esophageal cancer]. Wu K, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 1999 Oct. PMID 10514543
    2. Comparative immunohistochemical analysis suggests a conserved role of EPS8L1 in epidermal and hair follicle barriers of mammals. Alibardi L, et al. Protoplasma, 2024 Mar. PMID 37889356
    3. Structural basis of PxxDY motif recognition in SH3 binding. Aitio O, et al. J Mol Biol, 2008 Sep 26. PMID 18644376
    4. Reciprocal regulation of SH3 and SH2 domain binding via tyrosine phosphorylation of a common site in CD3epsilon. Kesti T, et al. J Immunol, 2007 Jul 15. PMID 17617578
    5. In silico analysis of the EPS8 gene family: genomic organization, expression profile, and protein structure. Tocchetti A, et al. Genomics, 2003 Feb. PMID 12620401

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comparative immunohistochemical analysis suggests a conserved role of EPS8L1 in epidermal and hair follicle barriers of mammals.
      Title: Comparative immunohistochemical analysis suggests a conserved role of EPS8L1 in epidermal and hair follicle barriers of mammals.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC4642, FLJ20258, MGC23164

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables T cell receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cadherin binding HDA PubMed 
    contributes_to guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ruffle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of ruffle assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 

    General protein information

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    Preferred Names
    epidermal growth factor receptor kinase substrate 8-like protein 1
    Names
    EPS8 like 1
    EPS8-like protein 1
    EPS8-related protein 1
    down-regulated in esophageal cancer cDNA 3
    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_017729.4 → NP_060199.3  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform b

      See identical proteins and their annotated locations for NP_060199.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and contains an alternate in-frame segment in the 5' coding region compared to variant 1. It encodes a shorter isoform (b) with a different N-terminus compared to isoform a.
      Source sequence(s)
      AC011476, AF370395, AK075098, BC015763, DB018703
      Consensus CDS
      CCDS12915.1
      UniProtKB/TrEMBL
      B4DKV7
      Related
      ENSP00000245618.4, ENST00000245618.5
      Conserved Domains (2) summary
      cd09540
      Location:502 → 567
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:355 → 408
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

    2. NM_133180.3 → NP_573441.2  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform a

      See identical proteins and their annotated locations for NP_573441.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AF370395, AK075098, BC015763, DA452167
      Consensus CDS
      CCDS12914.1
      UniProtKB/Swiss-Prot
      Q71RE2, Q8NC10, Q8TE68, Q96BB7, Q9BSQ2, Q9GZQ2, Q9NXH0
      UniProtKB/TrEMBL
      B4DKV7
      Related
      ENSP00000201647.5, ENST00000201647.11
      Conserved Domains (3) summary
      cd09540
      Location:629 → 694
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:482 → 535
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:32 → 162
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      55075869..55087923
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439022.1 → XP_047294978.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X2

      UniProtKB/Swiss-Prot
      Q71RE2, Q8NC10, Q8TE68, Q96BB7, Q9BSQ2, Q9GZQ2, Q9NXH0

    2. XM_005259020.3 → XP_005259077.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X1

      UniProtKB/TrEMBL
      B4DKV7
      Conserved Domains (3) summary
      cd09540
      Location:661 → 726
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:514 → 567
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:32 → 162
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    3. XM_011527051.4 → XP_011525353.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X4

      UniProtKB/TrEMBL
      K7EKX9
      Conserved Domains (1) summary
      cd01210
      Location:32 → 162
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    4. XM_011527052.4 → XP_011525354.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X5

      UniProtKB/TrEMBL
      K7EKX9
      Related
      ENST00000592824.5
      Conserved Domains (1) summary
      cd01210
      Location:32 → 162
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

    5. XM_047439021.1 → XP_047294977.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X1

    6. XM_011527050.2 → XP_011525352.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X3

      UniProtKB/TrEMBL
      B4DKV7
      Conserved Domains (2) summary
      cd09540
      Location:534 → 599
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:387 → 440
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      979267..987042
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      721071..728846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      1055855..1063630
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      1083392..1091167
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      1057941..1065716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      994234..1002009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      978651..986426
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      788030..795805
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      1058351..1066126
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      58170549..58182414
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321339.1 → XP_054177314.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X1

    2. XM_054321341.1 → XP_054177316.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X4

    3. XM_054321342.1 → XP_054177317.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X5

    4. XM_054321340.1 → XP_054177315.1  epidermal growth factor receptor kinase substrate 8-like protein 1 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_139204.1: Suppressed sequence

      Description
      NM_139204.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TE68.3 GenPept UniProtKB/Swiss-Prot:Q8TE68

    Gene LinkOut

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

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