PHF6 - PHD finger protein 6 (human)
Gene
Symbol
Taxonomy
Dates
- Create:2016-09-14
- Modify:2024-12-29
Description
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]
Enables several functions, including histone deacetylase binding activity; phosphoprotein binding activity; and scaffold protein binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Implicated in Borjeson-Forssman-Lehmann syndrome; acute myeloid leukemia; and congestive heart failure. Biomarker of colorectal carcinoma and hepatocellular carcinoma.
- BFLS
- BORJ
- CENP-31
- PHD-like zinc finger protein
- centromere protein 31
Transcriptional regulator that associates with ribosomal RNA promoters and suppresses ribosomal RNA (rRNA) transcription.
Isoform
UniProt ID
RefSeq Accession
Highly accurate protein structure prediction with AlphaFold. Nature. 2021 Aug;596(7873):583-589. DOI:10.1038/s41586-021-03819-2. PMID:34265844; PMCID:PMC8371605
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