PRPF3 Gene Summary [Human]
The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PRPF3 |
| Official Name | pre-mRNA processing factor 3 [Source:HGNC Symbol;Acc:HGNC:17348] |
| Ensembl ID | ENSG00000117360 |
| Bio databases IDs | |
| Aliases | pre-mRNA processing factor 3 |
| Synonyms | 3632413F13Rik, HPRP3, HPRP3P, pre-mRNA processing factor 3, PRP3, Prp3p, RP18, SNRNP90, U4/U6-associated RNA splicing factor, U6-90 |
| Species | Human, Homo sapiens |
| Orthologies |
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 PRPF3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- pre-mRNA processing factor 3 (PRP3)
- Protein of unknown function (DUF1115)
- PWI, domain in splicing factors
- PWI domain
- C-terminal domain of Prp3 and related proteins
- protein binding
- identical protein binding
Pathways
Biological processes and signaling networks where the PRPF3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- osteoarthritis
- retinal dystrophy
- major depression
- retinitis pigmentosa type 18
- schizophrenia
- autosomal dominant retinitis pigmentosa
- retinitis pigmentosa
- pervasive developmental disorder
- bipolar disorder
- attention deficit hyperactivity disorder
role in cell
- proliferation
- survival
- splicing by
- processing 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
- nuclear fraction
- cytosol
- spliceosomes
- nucleoplasm
- interchromatin granule clusters
- nuclear speckles
- Cajal bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRPF3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- RNA splicing, via transesterification reactions
- RNA splicing
- mRNA processing
- nuclear mRNA splicing, via spliceosome
- assembly of spliceosomal tri-snRNP
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear speck
- U4/U6 x U5 tri-snRNP complex
- Cajal body
- spliceosomal complex
- cytosol
- U2-type precatalytic spliceosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- RNA binding