HEATR3 Gene Summary [Human]

The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016]

Details

Type
Protein Coding
Official Symbol
HEATR3
Official Name
HEAT repeat containing 3 [Source:HGNC Symbol;Acc:HGNC:26087]
Ensembl ID
ENSG00000155393
Bio databases IDs NCBI: 55027 Ensembl: ENSG00000155393
Aliases HEAT repeat containing 3
Synonyms C030036P15Rik, DBA21, HEAT repeat containing 3, RGD1308267, SYO1
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 HEATR3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • HEAT-like repeat
  • Fungal symportin 1 (syo1) and similar proteins

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cancer
  • epithelial neoplasia
  • Diamond-Blackfan anemia type 21
  • uterine leiomyoma
  • leiomyomatosis
  • diamond blackfan anemia type 1
  • liver cancer
  • epithelial cancer
  • cholangiocarcinoma cancer
  • bile duct cancer
regulates
  • ribosomal large subunit
role in cell
  • maturation

Subcellular Expression

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human HEATR3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • ribosomal large subunit biogenesis
  • protein import into nucleus
  • erythrocyte maturation

Molecular Function

What the gene product does at the molecular level
  • unfolded 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.