PRPF8 Gene Summary [Human]
Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PRPF8 |
| Official Name | pre-mRNA processing factor 8 [Source:HGNC Symbol;Acc:HGNC:17340] |
| Ensembl ID | ENSG00000174231 |
| Bio databases IDs | |
| Aliases | pre-mRNA processing factor 8 |
| Synonyms | D11Bwg0410e, DBF3/PRP8, HPRP8, pre-mRNA processing factor 8, PRP8, PRPC8, RP13, Sfprp8l, SNRNP220, U5-220 |
| 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 PRPF8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNAse H
- U6-snRNA interacting domain of PrP8
- PRO8NT (NUC069), PrP8 N-terminal domain
- Mpr1p, Pad1p N-terminal (MPN) domains
- PROCN (NUC071) domain
- U5-snRNA binding site 2 of PrP8
- PROCT (NUC072) domain
- RNA recognition motif of the spliceosomal PrP8
- protein binding
Pathways
Biological processes and signaling networks where the PRPF8 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
- retinal dystrophy
- autosomal dominant retinitis pigmentosa
- retinitis pigmentosa
- hereditary disorder
- organismal death
- ischemic stroke
- retinitis pigmentosa type 13
- secondary acute myeloid leukemia
- leiomyomatosis
- uterine leiomyoma
role in cell
- cell viability
- growth
- expression in
- cell death
- accumulation in
- survival
- proliferation
- replication in
- G1 phase
- ciliogenesis
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
- mother centriole
- catalytic step 2 spliceosome
- connecting cilia
- spliceosomes
- nucleoplasm
- nucleoli
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRPF8 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
- cellular response to lipopolysaccharide
- cellular response to tumor necrosis factor
- mRNA processing
- nuclear mRNA splicing, via spliceosome
- assembly of spliceosomal tri-snRNP
Cellular Component
Where in the cell the gene product is active
- nucleus
- catalytic step 2 spliceosome
- nuclear speck
- membrane
- U4/U6 x U5 tri-snRNP complex
- U2-type catalytic step 1 spliceosome
- U5 snRNP
- U2-type catalytic step 2 spliceosome
- U2-type precatalytic spliceosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- U6 snRNA binding
- U5 snRNA binding
- pre-mRNA intronic binding
- RNA binding
- protein binding
- K63-linked polyubiquitin binding
- U1 snRNA binding
- peptidase activity
- U2 snRNA binding