RP9 Gene Summary [Human]

The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]

Details

Type
Nonsense Mediated Decay
Official Symbol
RP9
Official Name
RP9 pre-mRNA splicing factor [Source:HGNC Symbol;Acc:HGNC:10288]
Ensembl ID
ENSG00000164610
Bio databases IDs NCBI: 6100 Ensembl: ENSG00000164610
Aliases RP9 pre-mRNA splicing factor, Pim-1 kinase associated protein
Synonyms LOC222136, PAP-1, retinitis pigmentosa 9 (human), RGD1559759, RP9H, RP9 pre-mRNA splicing factor, RP9, pre-mRNA splicing factor
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 RP9 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • 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
  • autosomal dominant retinitis pigmentosa
  • retinitis pigmentosa type 9
regulated by
regulates

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
  • nuclear foci
  • nuclear speckles
  • nuclear matrix

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RP9 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • RNA splicing
  • cognition

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • signal recognition particle receptor complex

Molecular Function

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

Gene-Specific Assays for Results You Can Trust

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