PRPF6 Gene Summary [Human]
The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PRPF6 |
| Official Name | pre-mRNA processing factor 6 [Source:HGNC Symbol;Acc:HGNC:15860] |
| Ensembl ID | ENSG00000101161 |
| Bio databases IDs | |
| Aliases | pre-mRNA processing factor 6 |
| Synonyms | 1190003A07Rik, 2610031L17Rik, ANT-1, C20orf14, hPrp6, pre-mRNA processing factor 6, pre-mRNA splicing factor 6, PRP6, PUTATIVE MITOCHONDRIAL OUTER MEMBRANE protein IMPORT receptor, RGD1307103, RP60, SNRNP102, TOM, U5-102K, U5 snRNP-associated 102 kDa |
| 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 PRPF6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- HAT (Half-A-TPR) repeats
- transcription regulator
- transcription co-activator
- PRP1 splicing factor, N-terminal
- protein binding activity, bridging
- ribonucleoprotein binding
- androgen receptor binding
- putative PEP-CTERM system TPR-repeat lipoprotein
- protein binding
- identical protein binding
- tetratricopeptide repeat
- RNA binding
Pathways
Biological processes and signaling networks where the PRPF6 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
- liver cancer
- epithelial cancer
- retinitis pigmentosa type 60
- hepatocellular carcinoma
- retinitis pigmentosa
- retinal dystrophy
- infection by HIV-1
role in cell
- proliferation
- growth
- replication in
- migration
- invasion by
- splicing by
- alternative splicing in
- homologous recombination in
- paclitaxel resistance
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
- intracellular membrane-bounded organelle
- catalytic step 2 spliceosome
- basal bodies
- centrosome
- cytosol
- connecting cilia
- spliceosomes
- nucleoplasm
- interchromatin granule clusters
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PRPF6 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
- positive regulation of transcription from RNA polymerase II promoter
- RNA localization
- spliceosomal complex assembly
- 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
- U4/U6 x U5 tri-snRNP complex
- membrane
- U5 snRNP
- spliceosomal complex
- U2-type precatalytic spliceosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- RNA binding
- protein binding
- ribonucleoprotein complex binding
- protein binding, bridging