THUMPD1 Gene Summary [Human]

Enables RNA binding activity. Predicted to be involved in tRNA modification. Predicted to be located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Nonsense Mediated Decay
Official Symbol
THUMPD1
Official Name
THUMP domain containing 1 [Source:HGNC Symbol;Acc:HGNC:23807]
Ensembl ID
ENSG00000066654
Bio databases IDs NCBI: 55623 Ensembl: ENSG00000066654
Aliases THUMP domain containing 1
Synonyms 6330575P11Rik, NEDSOA, Tan1, THUMP domain 1 NAT10 acetyltransferase adaptor, THUMP domain containing 1
Species
Human, Homo sapiens
OrthologiesMouse

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 THUMPD1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • THUMP domain
  • THUMP domain, predicted to bind RNA
  • 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
  • hereditary disorder
  • neurodevelopmental disorder with speech delay and variable ocular anomalies
  • neurodevelopmental disorder
regulated by
regulates
  • mir-9 (includes others)
  • mir-379 (includes others)
  • DGCR8
  • MIR92A
  • mir-29 (includes others)
role in cell
  • binding 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.
  • Nucleus
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human THUMPD1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • tRNA modification

Cellular Component

Where in the cell the gene product is active
  • nucleoplasm

Molecular Function

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