PUF60 Gene Summary [Human]
This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
Details
| Type | Protein Coding |
| Official Symbol | PUF60 |
| Official Name | poly(U) binding splicing factor 60 [Source:HGNC Symbol;Acc:HGNC:17042] |
| Ensembl ID | ENSG00000179950 |
| Bio databases IDs | |
| Aliases | poly(U) binding splicing factor 60, siah binding protein 1, FBP interacting repressor, pyrimidine tract binding splicing factor, Ro ribonucleoprotein binding protein 1 |
| Synonyms | 2410104I19Rik, 2810454F19Rik, FIR, Fuse-binding protein-interacting repressor, poly-U binding splicing factor 60, poly(U) binding splicing factor 60, RoBPI, SIAHBP1, VRJS |
| 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 PUF60 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA recognition motif (RRM) superfamily
- RNA recognition motif
- splicing factor, CC1-like family
- protein binding
- identical protein binding
- poly-U binding splicing factor, half-pint family
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- colorectal cancer
- non-Hodgkin disease
- hematologic cancer
- hematological neoplasia
- thrombocytopenia
- lymphomagenesis
- lymphoid cancer
- lymphatic neoplasia
- CHARGE syndrome
role in cell
- apoptosis
- migration
- expression in
- cell death
- proliferation
- number
- repression in
- alternative splicing in
- invasion by
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
- cell junction
- ribosome
- spliceosomes
- nucleoplasm
- interchromatin granule clusters
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PUF60 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of alternative nuclear mRNA splicing, via spliceosome
- alternative nuclear mRNA splicing, via spliceosome
- apoptotic process
- mRNA splice site selection
Cellular Component
Where in the cell the gene product is active
- cell junction
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- identical protein binding
- protein binding
- RNA binding
- cadherin binding