EPPK1 - epiplakin 1 Gene

Also Known as EPIPL; EPIPL1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 83481

About EPPK1

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,857,324-143,879,194 (from NCBI)

This gene has 2 transcripts (splice variants), 91 orthologues and 36 paralogues. Biased expression in skin (RPKM 9.0), colon (RPKM 7.5) and 10 other tissues.

Summary

The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]

EPPK1 Products (1)

mRNA Protein Name
NM_031308.4 NP_112598.3 epiplakin

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables intermediate filament binding IPI
IPI: Inferred from physical interaction
15671067 GOA
Biological Process GO Annotation Evidence References Source
involved in intermediate filament organization IDA
IDA: Inferred from direct assay
23398049 GOA
involved in intermediate filament organization IMP
IMP: Inferred from mutant phenotype
15671067 GOA
involved in negative regulation of cell migration IMP
IMP: Inferred from mutant phenotype
23398049 GOA
involved in negative regulation of epithelial cell proliferation IMP
IMP: Inferred from mutant phenotype
27206504 GOA
involved in negative regulation of wound healing IMP
IMP: Inferred from mutant phenotype
23398049 GOA
involved in wound healing IMP
IMP: Inferred from mutant phenotype
27206504 GOA
Cellular Component GO Annotation Evidence References Source
located in bicellular tight junction IDA
IDA: Inferred from direct assay
23398049 GOA
located in cell periphery IDA
IDA: Inferred from direct assay
23398049 GOA
located in cytoskeleton IDA
IDA: Inferred from direct assay
15671067 GOA
located in hemidesmosome IDA
IDA: Inferred from direct assay
23398049 GOA
located in keratin filament IDA
IDA: Inferred from direct assay
23398049 GOA
located in perinucleolar compartment IDA
IDA: Inferred from direct assay
15671067 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EPPK1 Protein Structure

Plectin

Plectin: Plectin repeat (72 - 116)

Plectin

Plectin: Plectin repeat (149 - 191)

Plectin

Plectin: Plectin repeat (316 - 360)

Plectin

Plectin: Plectin repeat (392 - 435)

Plectin

Plectin: Plectin repeat (603 - 647)

Plectin

Plectin: Plectin repeat (643 - 685)

Plectin

Plectin: Plectin repeat (717 - 761)

Plectin

Plectin: Plectin repeat (929 - 966)

Plectin

Plectin: Plectin repeat (961 - 1005)

Plectin

Plectin: Plectin repeat (1038 - 1079)

Plectin

Plectin: Plectin repeat (1277 - 1320)

Plectin

Plectin: Plectin repeat (1353 - 1394)

Plectin

Plectin: Plectin repeat (1565 - 1606)

Plectin

Plectin: Plectin repeat (1602 - 1646)

Plectin

Plectin: Plectin repeat (1678 - 1721)

Plectin

Plectin: Plectin repeat (1891 - 1933)

Plectin

Plectin: Plectin repeat (1930 - 1972)

Plectin

Plectin: Plectin repeat (2004 - 2046)

Plectin

Plectin: Plectin repeat (2218 - 2265)

Plectin

Plectin: Plectin repeat (2260 - 2304)

Plectin

Plectin: Plectin repeat (2336 - 2379)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2420 a.a.
Protein Preferred Names Protein Names

epiplakin

  • 450 kDa epidermal antigen

Related Diseases

Diseases Alias
Melanotic Medulloblastoma

  • Medulloblastoma, Melanotic
Paraneoplastic Pemphigus
Sarcomatosis
Maxillary Cancer

  • Maxillary Neoplasm

  • Maxillary Neoplasms

  • Upper Jaw Bone Cancer
Subcorneal Pustular Dermatosis

  • Subcorneal Pustular Dermatitis

  • Sneddon-Wilkinson Disease Or Syndrome

  • Pustulosis Subcornealis

  • Sneddon-Wilkinson Disease

  • Skin Diseases, Vesiculobullous

  • Vesiculobullous Skin Disease
Jaw Cancer

  • Jaw Neoplasms

  • Jaw Neoplasm

  • Neoplasm Of Jaw

  • Cancer Of Jaw
Bullous Skin Disease

  • Skin Diseases Bullous

  • Skin Diseases, Bullous
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04450 EPPK1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS07472 KRT9 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20399 Eppk1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26908 Eppk1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus EPPK1 RGD RGD:1587023
Mus musculus EPPK1 MGD MGI:2386306
Bos taurus EPPK1 VGNC VGNC:106726