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    EPS8L3 EPS8 signaling adaptor L3 [ Homo sapiens (human) ]

    Gene ID: 79574, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EPS8L3provided by HGNC
    Official Full Name
    EPS8 signaling adaptor L3provided by HGNC
    Primary source
    HGNC:HGNC:21297
    See related
    Ensembl:ENSG00000198758 MIM:614989; AllianceGenome:HGNC:21297
    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
    HYPT5; MUHH2; EPS8R3
    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. Alternatively spliced transcript variants encoding different isoforms exist. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in small intestine (RPKM 73.4), duodenum (RPKM 70.1) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EPS8L3 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109750080..109763923, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109760224..109774060, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (110292702..110306545, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene glutathione S-transferase mu 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1158 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:110293035-110294234 Neighboring gene glutathione S-transferase mu 3 Neighboring gene uncharacterized LOC124904258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110303188-110303917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110312201-110313156 Neighboring gene Sharpr-MPRA regulatory region 10752 Neighboring gene Sharpr-MPRA regulatory region 9477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110329469-110330352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110330353-110331236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110350451-110351094 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:110351095-110351737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1159 Neighboring gene NADH:ubiquinone oxidoreductase subunit A5 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1160 Neighboring gene long intergenic non-protein coding RNA 1768 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:110407495-110408040 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:110420113-110420301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110422869-110423369 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110423473-110424313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:110424314-110425153 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7635 Neighboring gene Sharpr-MPRA regulatory region 12342

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Sorted-Cell Sequencing on HCC Specimens Reveals EPS8L3 as a Key Player in CD24/CD13/EpCAM-Triple Positive, Stemness-Related HCC Cells. Tsui YM, et al. Cell Mol Gastroenterol Hepatol, 2024. PMID 38750898, Free PMC Article
    2. Upregulation of EPS8L3 is associated with tumorigenesis and poor prognosis in patients with liver cancer. Li P, et al. Mol Med Rep, 2019 Sep. PMID 31322213
    3. Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. Zhang X, et al. J Med Genet, 2012 Dec. PMID 23099647, Free PMC Article
    4. Overexpression of EPS8L3 promotes cell proliferation by inhibiting the transactivity of FOXO1 in HCC. Zeng CX, et al. Neoplasma, 2018 Sep 19. PMID 29940761
    5. Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes. Li Q, et al. Clin Exp Dermatol, 2014 Mar. PMID 24236410

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Sorted-Cell Sequencing on HCC Specimens Reveals EPS8L3 as a Key Player in CD24/CD13/EpCAM-Triple Positive, Stemness-Related HCC Cells.
      Title: Sorted-Cell Sequencing on HCC Specimens Reveals EPS8L3 as a Key Player in CD24/CD13/EpCAM-Triple Positive, Stemness-Related HCC Cells.
    2. The results revealed that EPS8L3 expression was significantly upregulated in liver cancer tissues and cell lines (P<0.01), and that the expression of EPS8L3 was closely associated with grade (P=0.024) and mortality (P=0.011).
      Title: Upregulation of EPS8L3 is associated with tumorigenesis and poor prognosis in patients with liver cancer.
    3. EPS8L3 might promote proliferation by hyperactivating the AKT signaling pathway and subsequently inhibiting the FOXO1 transcriptional activity in hepatocellular carcinoma
      Title: Overexpression of EPS8L3 promotes cell proliferation by inhibiting the transactivity of FOXO1 in HCC.
    4. The results suggest that EPS8L3 is a causative gene for Marie Unna hereditary hypotrichosis.
      Title: Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
    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

    Associated conditions

    Description Tests
    Hypotrichosis 5
    MedGen: C2748535 OMIM: 612841 GeneReviews: Not available
    		not available

    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

    Homology

    Clone Names

    • FLJ21522, MGC16817

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    NOT enables actin filament binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 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 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 hair cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in ruffle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    epidermal growth factor receptor kinase substrate 8-like protein 3
    Names
    EPS8 like 3
    EPS8-like protein 3
    EPS8-related protein 3
    epidermal growth factor receptor pathway substrate 8-related protein 3

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001319952.2 → NP_001306881.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate 5' exon and uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AK025175, AK307932, AL158847, CB159338
      UniProtKB/TrEMBL
      A8K2J6
      Conserved Domains (3) summary
      cd11764
      Location:392 → 444
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:1 → 120
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
      cl15755
      Location:461 → 526
      SAM_superfamily; SAM (Sterile alpha motif )

    2. NM_024526.4 → NP_078802.2  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform c

      See identical proteins and their annotated locations for NP_078802.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK025175, AK225235, AK290261, AW937714, BM797626, BM824107, CB159338, DA927692
      Consensus CDS
      CCDS813.1
      UniProtKB/TrEMBL
      A8K2J6
      Related
      ENSP00000354551.4, ENST00000361852.8
      Conserved Domains (3) summary
      cd11764
      Location:425 → 477
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:25 → 154
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
      cl15755
      Location:494 → 559
      SAM_superfamily; SAM (Sterile alpha motif )

    3. NM_133181.4 → NP_573444.2  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform b

      See identical proteins and their annotated locations for NP_573444.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is 1 aa shorter compared to isoform a.
      Source sequence(s)
      AK292198, AY074930, BM737806, BM824107
      Consensus CDS
      CCDS814.1
      UniProtKB/Swiss-Prot
      A8K833, Q5T8Q6, Q5T8Q7, Q5T8Q8, Q8TE67, Q96E47, Q9H719
      UniProtKB/TrEMBL
      A8K2J6
      Related
      ENSP00000355255.4, ENST00000361965.9
      Conserved Domains (3) summary
      cd11764
      Location:455 → 507
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:25 → 154
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
      cl15755
      Location:524 → 589
      SAM_superfamily; SAM (Sterile alpha motif )

    4. NM_139053.3 → NP_620641.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform a

      See identical proteins and their annotated locations for NP_620641.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC012926, BM737806, BM824107, BP419077
      Consensus CDS
      CCDS815.1
      UniProtKB/TrEMBL
      A8K2J6
      Related
      ENSP00000358820.3, ENST00000369805.7
      Conserved Domains (3) summary
      cd11764
      Location:456 → 508
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:25 → 154
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
      cl15755
      Location:525 → 590
      SAM_superfamily; SAM (Sterile alpha motif )

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      109750080..109763923 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430380.1 → XP_047286336.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X8

      UniProtKB/TrEMBL
      A8K2J6

    2. XM_047430379.1 → XP_047286335.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X7

      UniProtKB/TrEMBL
      A8K2J6

    3. XM_011542134.4 → XP_011540436.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X5

      UniProtKB/TrEMBL
      A8K2J6
      Conserved Domains (3) summary
      cd11764
      Location:430 → 482
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:1 → 120
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
      cl15755
      Location:499 → 564
      SAM_superfamily; SAM (Sterile alpha motif )

    4. XM_047430382.1 → XP_047286338.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X8

      UniProtKB/TrEMBL
      A8K2J6

    5. XM_047430384.1 → XP_047286340.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X5

      UniProtKB/TrEMBL
      A8K2J6

    6. XM_011542133.3 → XP_011540435.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X2

      UniProtKB/TrEMBL
      A8K2J6
      Conserved Domains (3) summary
      cd11764
      Location:463 → 515
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:25 → 154
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
      cl15755
      Location:532 → 597
      SAM_superfamily; SAM (Sterile alpha motif )

    7. XM_017002329.3 → XP_016857818.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X6

      UniProtKB/TrEMBL
      A8K2J6

    8. XM_017002328.3 → XP_016857817.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X4

      UniProtKB/TrEMBL
      A8K2J6

    9. XM_011542132.3 → XP_011540434.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X1

      UniProtKB/TrEMBL
      A8K2J6
      Conserved Domains (3) summary
      cd11764
      Location:464 → 516
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:25 → 154
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
      cl15755
      Location:533 → 598
      SAM_superfamily; SAM (Sterile alpha motif )

    10. XM_011542135.4 → XP_011540437.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X9

      UniProtKB/TrEMBL
      A8K2J6
      Conserved Domains (3) summary
      cd11764
      Location:400 → 452
      SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
      cd01210
      Location:1 → 120
      PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
      cl15755
      Location:469 → 534
      SAM_superfamily; SAM (Sterile alpha motif )

    11. XM_047430369.1 → XP_047286325.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X5

      UniProtKB/TrEMBL
      A8K2J6

    12. XM_017002327.3 → XP_016857816.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X3

      UniProtKB/TrEMBL
      A8K2J6

    RNA

    1. XR_007063682.1 RNA Sequence

    2. XR_001737407.3 RNA Sequence

      Related
      ENST00000472325.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      109760224..109774060 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338727.1 → XP_054194702.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X8

      UniProtKB/TrEMBL
      A8K2J6

    2. XM_054338726.1 → XP_054194701.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X7

      UniProtKB/TrEMBL
      A8K2J6

    3. XM_054338724.1 → XP_054194699.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X5

      UniProtKB/TrEMBL
      A8K2J6

    4. XM_054338728.1 → XP_054194703.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X8

      UniProtKB/TrEMBL
      A8K2J6

    5. XM_054338730.1 → XP_054194705.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X5

      UniProtKB/TrEMBL
      A8K2J6

    6. XM_054338720.1 → XP_054194695.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X2

      UniProtKB/TrEMBL
      A8K2J6

    7. XM_054338725.1 → XP_054194700.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X6

      UniProtKB/TrEMBL
      A8K2J6

    8. XM_054338722.1 → XP_054194697.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X4

      UniProtKB/TrEMBL
      A8K2J6

    9. XM_054338719.1 → XP_054194694.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X1

      UniProtKB/TrEMBL
      A8K2J6

    10. XM_054338729.1 → XP_054194704.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X9

      UniProtKB/TrEMBL
      A8K2J6

    11. XM_054338723.1 → XP_054194698.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X5

      UniProtKB/TrEMBL
      A8K2J6

    12. XM_054338721.1 → XP_054194696.1  epidermal growth factor receptor kinase substrate 8-like protein 3 isoform X3

      UniProtKB/TrEMBL
      A8K2J6

    RNA

    1. XR_008486162.1 RNA Sequence

    2. XR_008486163.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TE67.2 GenPept UniProtKB/Swiss-Prot:Q8TE67

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