POP1 Gene Summary [Human]

This gene encodes the protein subunit of two different small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is a ribonuclease that localizes to the nucleus and functions in pre-RNA processing. This protein is also an autoantigen in patients suffering from connective tissue diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]

Details

Type
Protein Coding
Official Symbol
POP1
Official Name
POP1 homolog, ribonuclease P/MRP subunit [Source:HGNC Symbol;Acc:HGNC:30129]
Ensembl ID
ENSG00000104356
Bio databases IDs NCBI: 10940 Ensembl: ENSG00000104356
Aliases POP1 homolog, ribonuclease P/MRP subunit, processing of precursors 1
Synonyms 4932434G09Rik, ANXD2, POP1 homolog, ribonuclease P/MRP subunit, processing of precursor 1, ribonuclease P/MRP family, (S. cerevisiae)
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 POP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ribonuclease P
  • Ribonucleases P/MRP protein subunit POP1
  • enzyme
  • protein binding
  • POPLD (NUC188) domain
  • RNA binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • anauxetic dysplasia type 2
  • hereditary disorder
  • tuberculosis
regulated by
regulates
role in cell
  • expression in
  • function 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
  • nucleolar region
  • metaphase plate
  • nucleoplasm
  • nucleolus derived foci
  • nucleoli
  • mitotic spindle
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human POP1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • tRNA processing
  • tRNA catabolic process
  • tRNA 5'-leader removal

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • ribonuclease MRP complex
  • multimeric ribonuclease P complex
  • nucleolus
  • nucleolar ribonuclease P complex
  • nucleoplasm

Molecular Function

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