Aliases for EPPK1 Gene
External Ids for EPPK1 Gene
Previous GeneCards Identifiers for EPPK1 Gene
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]
GeneCards Summary for EPPK1 Gene
EPPK1 (Epiplakin 1) is a Protein Coding gene. Diseases associated with EPPK1 include Melanotic Medulloblastoma and Vater/Vacterl Association. Among its related pathways are Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is DSP.
UniProtKB/Swiss-Prot for EPPK1 Gene
Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress (PubMed:15671067, PubMed:27206504, PubMed:23398049). In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture (PubMed:27206504, PubMed:23398049). However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epithelium morphogenesis and integrity. In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments against disruption. During liver and pancreas injuries, plays a protective role by chaperoning disease-induced intermediate filament reorganization (By similarity).