PPHLN1 Gene Summary [Human]

The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
PPHLN1
Official Name
periphilin 1 [Source:HGNC Symbol;Acc:HGNC:19369]
Ensembl ID
ENSG00000134283
Bio databases IDs NCBI: 51535 Ensembl: ENSG00000134283
Aliases periphilin 1
Synonyms 1110063K05RIK, 1600022A19RIK, CR, HSPC206, HSPC232, periphilin 1
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PPHLN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Lge1_periphilin-like
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • gout
  • COVID-19
  • colorectal cancer
  • coronary artery disease
regulated by
role in cell
  • transformation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • Golgi Apparatus
  • cytosol
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PPHLN1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of gene expression, epigenetic
  • negative regulation of transcription, DNA-dependent
  • keratinization
  • positive regulation of methylation-dependent chromatin silencing

Cellular Component

Where in the cell the gene product is active
  • cytosol
  • Golgi apparatus
  • chromosome
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • RNA binding
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.