Human Gene EPPK1 (ENST00000615648.2_11) from GENCODE V47lift37
  Description: epiplakin 1 (from RefSeq NM_031308.4)
Gencode Transcript: ENST00000615648.2_11
Gencode Gene: ENSG00000261150.3_13
Transcript (Including UTRs)
   Position: hg19 chr8:144,939,497-144,952,635 Size: 13,139 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr8:144,940,159-144,947,421 Size: 7,263 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:144,939,497-144,952,635)mRNA (may differ from genome)Protein (2420 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EPIPL_HUMAN
DESCRIPTION: RecName: Full=Epiplakin; AltName: Full=450 kDa epidermal antigen;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity).
TISSUE SPECIFICITY: Widely expressed with highest levels in liver, small intestine, colon, salivary glands, stomach and appendix.
SIMILARITY: Belongs to the plakin or cytolinker family.
SIMILARITY: Contains 65 plectin repeats.
CAUTION: It is uncertain whether Met-1 or Met-26 is the initiator.
SEQUENCE CAUTION: Sequence=BAB40803.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC92750.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: EPPK1
Diseases sorted by gene-association score: melanotic medulloblastoma (17), vater/vacterl association (13), vacterl association (9)

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

+  Common Gene Haplotype Alleles
  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 -23.5075-0.313 Picture PostScript Text
3' UTR -163.10662-0.246 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
IPR001101 - Plectin_repeat

Pfam Domains:
PF00681 - Plectin repeat

SCOP Domains:
46997 - Bacterial immunoglobulin/albumin-binding domains
75399 - Plakin repeat

ModBase Predicted Comparative 3D Structure on P58107
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:0003723 RNA binding
GO:0008092 cytoskeletal protein binding
GO:0019215 intermediate filament binding

Biological Process:
GO:0010839 negative regulation of keratinocyte proliferation
GO:0030336 negative regulation of cell migration
GO:0042060 wound healing
GO:0045109 intermediate filament organization
GO:0050680 negative regulation of epithelial cell proliferation
GO:0051548 negative regulation of keratinocyte migration
GO:0061045 negative regulation of wound healing
GO:1905041 regulation of epithelium regeneration

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005886 plasma membrane
GO:0005923 bicellular tight junction
GO:0016020 membrane
GO:0016323 basolateral plasma membrane
GO:0016327 apicolateral plasma membrane
GO:0030054 cell junction
GO:0030056 hemidesmosome
GO:0042995 cell projection
GO:0045095 keratin filament
GO:0071944 cell periphery
GO:0097356 perinucleolar compartment


-  Descriptions from all associated GenBank mRNAs
  AL137725 - Homo sapiens mRNA; cDNA DKFZp434G0719 (from clone DKFZp434G0719); partial cds.
AB051895 - Homo sapiens EPPK1 mRNA for epiplakin 1, complete cds.
JD493034 - Sequence 474058 from Patent EP1572962.
JD232161 - Sequence 213185 from Patent EP1572962.
JD103880 - Sequence 84904 from Patent EP1572962.
JD074497 - Sequence 55521 from Patent EP1572962.
JD252478 - Sequence 233502 from Patent EP1572962.
JD275828 - Sequence 256852 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A0A087X1U6, ENST00000615648.1, EPIPL, EPIPL_HUMAN, EPPK1 , NM_031308, P58107, Q76E58, Q9NSU9, uc327pzu.1, uc327pzu.2
UCSC ID: ENST00000615648.2_11
RefSeq Accession: NM_031308.4
Protein: P58107 (aka EPIPL_HUMAN or EPPL_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.