PHF5A Gene Summary [Human]
This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence-independent manner and may anchor the U2 snRNP to the pre-mRNA. The protein encoded by this gene contains a PHD-finger-like domain that is flanked by highly basic N- and C-termini. This protein belongs to the PHD-finger superfamily and may act as a chromatin-associated protein. This gene has several pseudogenes on different chromosomes. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PHF5A |
| Official Name | PHD finger protein 5A [Source:HGNC Symbol;Acc:HGNC:18000] |
| Ensembl ID | ENSG00000100410 |
| Bio databases IDs | |
| Aliases | PHD finger protein 5A, splicing factor 3b, subunit 7 |
| Synonyms | 1110007B08Rik,Ac2-246,bK223H9.2,INI,LOC192246,PHD finger protein 5A,Rds3,SAP14b,SF3b14b,SF3B7 |
| Species | Human, Homo sapiens |
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 PHF5A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- zinc ion binding
- protein binding
- PHF5-like protein
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- organismal death
- head and neck squamous cell carcinoma
- head and neck squamous cell cancer
- gastric cancer
- asthma
- refractive error
- metastasis
role in cell
- apoptosis
- expression in
- cell viability
- proliferation
- phosphorylation in
- invasion by
- degradation in
- migration
- binding in
- cell death
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
- centrosome
- spliceosomes
- nucleoplasm
- interchromatin granule clusters
- nuclear speckles
- nuclear matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHF5A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- stem cell differentiation
- positive regulation of transcription, DNA-dependent
- nuclear mRNA splicing, via spliceosome
Cellular Component
Where in the cell the gene product is active
- U12-type spliceosomal complex
- nucleus
- nuclear speck
- precatalytic spliceosome
- nuclear matrix
- spliceosomal complex
- U2-type spliceosomal complex
- U2-type precatalytic spliceosome
- U2 snRNP
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- zinc ion binding
- protein binding
- RNA binding