Human Gene EPS8L3 (uc001dyr.2) Description and Page Index
  Description: Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.
RefSeq Summary (NM_133181): 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].
Transcript (Including UTRs)
   Position: hg19 chr1:110,292,702-110,306,644 Size: 13,943 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr1:110,293,013-110,304,371 Size: 11,359 Coding Exon Count: 18 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:110,292,702-110,306,644)mRNA (may differ from genome)Protein (593 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCETreefamUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ES8L3_HUMAN
DESCRIPTION: RecName: Full=Epidermal growth factor receptor kinase substrate 8-like protein 3; Short=EPS8-like protein 3; AltName: Full=Epidermal growth factor receptor pathway substrate 8-related protein 3; Short=EPS8-related protein 3;
SUBUNIT: Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Interacts with FASLG.
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the EPS8 family.
SIMILARITY: Contains 1 SH3 domain.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): EPS8L3
CDC HuGE Published Literature: EPS8L3
Positive Disease Associations: Osteitis Deformans , Paget's disease , Parkinson Disease
Related Studies:
  1. Osteitis Deformans
    Omar M E Albagha et al. Nature genetics 2010, Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone., Nature genetics. [PubMed 20436471]
  2. Paget's disease
    Omar M E Albagha et al. Nature genetics 2011, Genome-wide association identifies three new susceptibility loci for Paget's disease of bone., Nature genetics. [PubMed 21623375]
  3. Parkinson Disease
    Hon-Chung Fung et al. Lancet neurology 2006, Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data., Lancet neurology. [PubMed 17052657]
    We generated publicly available genotype data for Parkinsons disease patients and controls so that these data can be mined and augmented by other researchers to identify common genetic variability that results in minor and moderate risk for disease.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: EPS8L3
Diseases sorted by gene-association score: marie unna congenital hypotrichosis* (247), hypotrichosis (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 89.29 RPKM in Small Intestine - Terminal Ileum
Total median expression: 177.32 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 -82.80225-0.368 Picture PostScript Text
3' UTR -69.16311-0.222 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
IPR013625 - PTB
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF07653 - Variant SH3 domain
PF08416 - Phosphotyrosine-binding domain
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1WXT
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on Q8TE67
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 Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0030676 Rac guanyl-nucleotide exchange factor activity
GO:0051015 actin filament binding

Biological Process:
GO:0042634 regulation of hair cycle

Cellular Component:
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK025175 - Homo sapiens cDNA: FLJ21522 fis, clone COL05884.
AK290261 - Homo sapiens cDNA FLJ78157 complete cds.
AK307932 - Homo sapiens cDNA, FLJ97880.
BC012926 - Homo sapiens EPS8-like 3, mRNA (cDNA clone MGC:16817 IMAGE:3853503), complete cds.
AK292198 - Homo sapiens cDNA FLJ75341 complete cds, highly similar to Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 1, mRNA.
AK225235 - Homo sapiens mRNA for epidermal growth factor receptor pathway substrate 8-like protein 3 isoform c variant, clone: COL05884.
JD387071 - Sequence 368095 from Patent EP1572962.
JD114761 - Sequence 95785 from Patent EP1572962.
JD447892 - Sequence 428916 from Patent EP1572962.
AY074930 - Homo sapiens epidermal growth factor receptor pathway substrate 8 related protein 3 (EPS8R3) mRNA, complete cds.
JD393867 - Sequence 374891 from Patent EP1572962.
AK308196 - Homo sapiens cDNA, FLJ98144.
AK310979 - Homo sapiens cDNA, FLJ18021.
JD105154 - Sequence 86178 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8K833, EPS8R3, ES8L3_HUMAN, NM_133181, NP_573444, Q5T8Q6, Q5T8Q7, Q5T8Q8, Q8TE67, Q96E47, Q9H719
UCSC ID: uc001dyr.2
RefSeq Accession: NM_133181
Protein: Q8TE67 (aka ES8L3_HUMAN)
CCDS: CCDS814.1, CCDS815.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_133181.3
exon count: 19CDS single in 3' UTR: no RNA size: 2329
ORF size: 1782CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3764.00frame shift in genome: no % Coverage: 99.53
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.