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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
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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

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