DNAJC21 Gene Summary [Human]

This gene encodes a member of the DNAJ heat shock protein 40 family of proteins that is characterized by two N-terminal tetratricopeptide repeat domains and a C-terminal DNAJ domain. This protein binds the precursor 45S ribosomal RNA and may be involved in early nuclear ribosomal RNA biogenesis and maturation of the 60S ribosomal subunit. Mutations in this gene result in Bone marrow failure syndrome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2017]

Details

Type
Protein Coding
Official Symbol
DNAJC21
Official Name
DnaJ heat shock protein family (Hsp40) member C21 [Source:HGNC Symbol;Acc:HGNC:27030]
Ensembl ID
ENSG00000168724
Bio databases IDs NCBI: 134218 Ensembl: ENSG00000168724
Aliases DnaJ heat shock protein family (Hsp40) member C21, JJJ1 DnaJ domain protein homolog (S. cerevisiae)
Synonyms 4930461P20Rik, 9930116P15Rik, BMFS3, DNAJA5, DnaJ heat shock protein family (Hsp40) member C21, GS3, JJJ1, LOC134218
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 DNAJC21 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • DnaJ domain
  • DnaJ
  • DnaJ molecular chaperone homology domain
  • Zinc-finger double-stranded RNA-binding
  • U1 zinc finger
  • protein binding
  • Zinc-finger of C2H2 type

Pathways

Biological processes and signaling networks where the DNAJC21 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • bone marrow failure syndrome type 3
  • hereditary disorder
  • Shwachman-Diamond syndrome type 1
  • constitutional bone marrow failure syndrome
  • Shwachman syndrome
  • arrhythmia
regulated by
role in cell
  • processing in

Subcellular Expression

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DNAJC21 gene, providing context for its role in the cell.

Biological Process

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

Cellular Component

Where in the cell the gene product is active
  • cytoplasm
  • cytosol
  • nucleolus
  • ribosome

Molecular Function

What the gene product does at the molecular level
  • zinc ion binding
  • 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.