Human Gene EPS8L1 (ENST00000201647.11_4) from GENCODE V47lift37
  Description: EPS8 like 1, transcript variant 1 (from RefSeq NM_133180.3)
Gencode Transcript: ENST00000201647.11_4
Gencode Gene: ENSG00000131037.15_7
Transcript (Including UTRs)
   Position: hg19 chr19:55,587,237-55,599,291 Size: 12,055 Total Exon Count: 20 Strand: +
Coding Region
   Position: hg19 chr19:55,587,813-55,598,982 Size: 11,170 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:55,587,237-55,599,291)mRNA (may differ from genome)Protein (723 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ES8L1_HUMAN
DESCRIPTION: RecName: Full=Epidermal growth factor receptor kinase substrate 8-like protein 1; Short=EPS8-like protein 1; AltName: Full=Epidermal growth factor receptor pathway substrate 8-related protein 1; Short=EPS8-related protein 1;
FUNCTION: Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton.
SUBUNIT: Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Detected in placenta.
SIMILARITY: Belongs to the EPS8 family.
SIMILARITY: Contains 1 SH3 domain.
SEQUENCE CAUTION: Sequence=AAG03038.1; Type=Frameshift; Positions=596; Sequence=AAG03039.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 128.56 RPKM in Esophagus - Mucosa
Total median expression: 398.78 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -26.4088-0.300 Picture PostScript Text
3' UTR -113.20309-0.366 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR013625 - PTB
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF08416 - Phosphotyrosine-binding domain
PF18016 - SAM domain (Sterile alpha motif)

SCOP Domains:
47769 - SAM/Pointed domain
50044 - SH3-domain
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2K2M - NMR MuPIT 2ROL - NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q8TE68
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0042608 T cell receptor binding
GO:0045296 cadherin binding
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0030676 Rac guanyl-nucleotide exchange factor activity

Biological Process:
GO:0007266 Rho protein signal transduction
GO:0035023 regulation of Rho protein signal transduction
GO:1900029 positive regulation of ruffle assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0032587 ruffle membrane
GO:0032991 macromolecular complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC004907 - Homo sapiens EPS8-like 1, mRNA (cDNA clone MGC:4642 IMAGE:3529476), complete cds.
CU678800 - Synthetic construct Homo sapiens gateway clone IMAGE:100023444 5' read EPS8L1 mRNA.
KJ902706 - Synthetic construct Homo sapiens clone ccsbBroadEn_12100 EPS8L1 gene, encodes complete protein.
AK309305 - Homo sapiens cDNA, FLJ99346.
AF370395 - Homo sapiens PP10566 mRNA, complete cds.
AK296732 - Homo sapiens cDNA FLJ60287 complete cds, highly similar to Epidermal growth factor receptor kinase substrate 8-like protein 1.
AK075098 - Homo sapiens cDNA FLJ90617 fis, clone PLACE1002329, weakly similar to EPIDERMAL GROWTH FACTOR RECEPTOR KINASE SUBSTRATE EPS8.
AK309908 - Homo sapiens cDNA, FLJ99949.
AY074928 - Homo sapiens epidermal growth factor receptor pathway substrate 8 related protein 1 (EPS8R1) mRNA, complete cds.
JD343549 - Sequence 324573 from Patent EP1572962.
AK301615 - Homo sapiens cDNA FLJ60362 complete cds, highly similar to Epidermal growth factor receptor kinase substrate 8-like protein 1.
AK000265 - Homo sapiens cDNA FLJ20258 fis, clone COLF7250.
BC015763 - Homo sapiens EPS8-like 1, mRNA (cDNA clone MGC:23164 IMAGE:4871012), complete cds.
CU677435 - Synthetic construct Homo sapiens gateway clone IMAGE:100023232 5' read EPS8L1 mRNA.
KJ894077 - Synthetic construct Homo sapiens clone ccsbBroadEn_03471 EPS8L1 gene, encodes complete protein.
AK057052 - Homo sapiens cDNA FLJ32490 fis, clone SKNSH1000301, highly similar to Epidermal growth factor receptor kinasesubstrate 8-like protein 1.
AF282167 - Homo sapiens DRC3 mRNA, complete cds.
JD248158 - Sequence 229182 from Patent EP1572962.
JD145778 - Sequence 126802 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: DRC3, ENST00000201647.1, ENST00000201647.10, ENST00000201647.2, ENST00000201647.3, ENST00000201647.4, ENST00000201647.5, ENST00000201647.6, ENST00000201647.7, ENST00000201647.8, ENST00000201647.9, EPS8R1, ES8L1_HUMAN, NM_133180, PP10566, Q71RE2, Q8NC10, Q8TE68, Q96BB7, Q9BSQ2, Q9GZQ2, Q9NXH0, uc317cie.1, uc317cie.2
UCSC ID: ENST00000201647.11_4
RefSeq Accession: NM_133180.3
Protein: Q8TE68 (aka ES8L1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.