PRPF31 Gene Summary [Human]
This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
Details
| Type | Protein Coding |
| Official Symbol | PRPF31 |
| Official Name | pre-mRNA processing factor 31 [Source:HGNC Symbol;Acc:HGNC:15446] |
| Ensembl ID | ENSG00000105618 |
| Bio databases IDs | |
| Aliases | pre-mRNA processing factor 31, U4/U6 small nuclear ribonucleoprotein Prp31 |
| Synonyms | 1500019O16Rik, 2810404O06Rik, 61K, NY-BR-99, pre-mRNA processing factor 31, PRP31, RP11, SNRNP61 |
| 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 PRPF31 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- U4 snRNA binding
- snoRNA binding domain, fibrillarin
- ribonucleoprotein binding
- Prp31 C terminal domain
- protein binding activity, bridging
- protein binding
- identical protein binding
- U4atac snRNA binding
- NOSIC (NUC001) domain
Pathways
Biological processes and signaling networks where the PRPF31 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
- retinitis pigmentosa
- retinal dystrophy
- retinitis pigmentosa type 11
- autosomal dominant retinitis pigmentosa
- PRPF31-related retinopathy
role in cell
- expression in
- accumulation in
- proliferation
- splicing by
- prometaphase
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
- Cytoplasm
- connecting cilia
- spliceosomes
- nucleoplasm
- nuclear speckles
- Cajal bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRPF31 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- snoRNA localization
- ribonucleoprotein complex localization
- nuclear mRNA splicing, via spliceosome
- assembly of spliceosomal tri-snRNP
Cellular Component
Where in the cell the gene product is active
- nucleus
- precatalytic spliceosome
- nuclear speck
- U4/U6 x U5 tri-snRNP complex
- U4atac snRNP
- Cajal body
- U2-type spliceosomal complex
- U2-type precatalytic spliceosome
- MLL1 complex
- nucleoplasm
- U4 snRNP
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- RNA binding
- protein binding
- ribonucleoprotein complex binding
- snRNP binding
- protein binding, bridging
- U4atac snRNA binding
- U4 snRNA binding