DCAF17 Gene Summary [Human]

This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Details

Type
Processed Transcript
Official Symbol
DCAF17
Official Name
DDB1 and CUL4 associated factor 17 [Source:HGNC Symbol;Acc:HGNC:25784]
Ensembl ID
ENSG00000115827
Bio databases IDs NCBI: 80067 Ensembl: ENSG00000115827
Aliases DDB1 and CUL4 associated factor 17, Woodhouse-Sakati syndrome
Synonyms 2810055O12Rik, 4833418A01Rik, A030004A10Rik, A930009G19Rik, C20orf37, C2orf37, DDB1 and CUL4 associated factor 17, RGD1565551
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 DCAF17 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • DDB1- and CUL4-associated factor 17
  • 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
  • Woodhouse-Sakati syndrome
  • neurodegeneration with brain iron accumulation

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
  • cytosol
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DCAF17 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • protein ubiquitination

Cellular Component

Where in the cell the gene product is active
  • membrane
  • cytosol
  • nucleolus
  • CUL4 RING ubiquitin ligase complex
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • 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.