PHF6 Gene Summary [Human]
This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Borjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by cognitive disability, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate splicing results in multiple transcript variants, encoding different isoforms. [provided by RefSeq, Jun 2010]
Details
| Type | Protein Coding |
| Official Symbol | PHF6 |
| Official Name | PHD finger protein 6 [Source:HGNC Symbol;Acc:HGNC:18145] |
| Ensembl ID | ENSG00000156531 |
| Bio databases IDs | |
| Aliases | PHD finger protein 6, centromere protein 31 |
| Synonyms | 2700007B13Rik, 4931428F02RIK, BFLS, BORJ, CENP-31, LOC103690175, mKIAA1823, PHD finger protein 6 |
| 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 PHF6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- histone binding
- transcription regulator
- PHD-like zinc-binding domain
- tubulin binding
- ribonucleoprotein binding
- enzyme binding
- phosphoprotein binding
- PHD finger superfamily
- histone deacetylase binding
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neuroblastoma
- neoplasia
- renal clear cell adenocarcinoma
- leukemia
- acute myeloid leukemia
- Borjeson-Forssman-Lehmann syndrome
- organismal death
- glioblastoma
- glioblastoma cancer
- serous ovarian adenocarcinoma
regulated by
- filgrastim
- dexamethasone
- mir-17 (includes others)
- mir-26 (includes others)
- olaparib
role in cell
- expression in
- proliferation
- migration
- number
- frequency
- replication in
- apoptosis
- cell cycle progression
- translocation in
- double-stranded DNA break repair in
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
- nucleoplasm
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PHF6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- blastocyst hatching
Cellular Component
Where in the cell the gene product is active
- nucleus
- kinetochore
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- tubulin binding
- DNA binding
- scaffold protein binding
- RNA binding
- protein binding
- histone deacetylase binding
- histone binding
- metal ion binding
- ribonucleoprotein complex binding
- phosphoprotein binding
- enzyme binding