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

Gene ID: 79574, updated on 11-Apr-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; 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
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Genomic context

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Location:
1p13.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (109750080..109763923, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (109760224..109774060, complement)
105.20220307 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

Expression

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  • Project title: 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. 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
  2. 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
  3. Overexpression of EPS8L3 promotes cell proliferation by inhibiting the transactivity of FOXO1 in HCC. Zeng CX, et al. Neoplasma, 2018 Sep 19. PMID 29940761
  4. 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
  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 (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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)

Genotypes

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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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_2023_10

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

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

  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

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

  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

  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

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

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

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

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

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

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

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

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

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

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

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

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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