SCEL Gene Summary [Human]

The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]

Details

Type
Nonsense Mediated Decay
Official Symbol
SCEL
Official Name
sciellin [Source:HGNC Symbol;Acc:HGNC:10573]
Ensembl ID
ENSG00000136155
Bio databases IDs NCBI: 8796 Ensembl: ENSG00000136155
Aliases sciellin
Synonyms 9230114I02Rik, SCIELLIN
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 SCEL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • LIM is a small protein-protein interaction domain, containing two zinc fingers
  • 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
  • diabetic nephropathy
  • epithelial thyroid cancer
  • thyroid carcinoma
  • psoriasis
  • senile lentigo
  • Moyamoya disease
regulated by
role in cell
  • differentiation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cornified envelope
  • perinuclear region

Gene Ontology Annotations

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

Biological Process

Functions and activities the gene product is involved in
  • keratinocyte differentiation
  • embryo development ending in birth or egg hatching
  • epidermis development
  • positive regulation of canonical Wnt receptor signaling pathway
  • response to mechanical stimulus

Cellular Component

Where in the cell the gene product is active
  • cornified envelope
  • perinuclear region of cytoplasm
  • extracellular vesicular exosome
  • cytoplasm

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • metal ion binding

Gene-Specific Assays for Results You Can Trust

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