PTCD3 Gene Summary [Human]

Enables rRNA binding activity and ribosomal small subunit binding activity. Involved in mitochondrial translation. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. Implicated in combined oxidative phosphorylation deficiency 51. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Nonsense Mediated Decay
Official Symbol
PTCD3
Official Name
pentatricopeptide repeat domain 3 [Source:HGNC Symbol;Acc:HGNC:24717]
Ensembl ID
ENSG00000132300
Bio databases IDs NCBI: 55037 Ensembl: ENSG00000132300
Aliases pentatricopeptide repeat domain 3
Synonyms 2610034F17Rik, 2810422B04RIK, AA589622, COXPD51, MRP-S39, mS39, Pentatricopeptide repeat domain 3, TRCP2
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 PTCD3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • rRNA binding
  • PPR repeat family
  • Pentatricopeptide repeat domain
  • protein binding
  • ribosomal small subunit binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • insulin resistance
  • combined oxidative phosphorylation deficiency 51
  • Leigh syndrome
regulated by
  • calcitriol
  • STAR
  • SOCS1
  • Bacillus anthracis Sterne strain 7702
role in cell
  • quantity

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
  • Plasma Membrane
  • Mitochondria
  • cytosol
  • mitochondrial matrix
  • mitochondrial inner membrane
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PTCD3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of translation
  • mitochondrial translation

Cellular Component

Where in the cell the gene product is active
  • mitochondrion
  • cytosol
  • mitochondrial small ribosomal subunit
  • plasma membrane
  • mitochondrial inner membrane
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • RNA binding
  • protein binding
  • ribosomal small subunit binding
  • rRNA 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.