PHF21A
Component of the BHC complex, a corepressor complex that represses transcription of neuron-specific genes in non-neuronal cells. The BHC complex is recruited at RE1/NRSE sites by REST and acts by deacetylating and demethylating specific sites on histones, thereby acting as a chromatin modifier. In the BHC complex, it may act as a scaffold. Inhibits KDM1A-mediated demethylation of 'Lys-4' of histone H3 in vitro, suggesting a role in demethylation regulation. Highly expressed in brain. Expressed at much lower level in other tissues. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
|
Protein type: Adaptor/scaffold |
Chromosomal Location of human Ortholog: 11p11.2 |
Cellular Component:
DNA repair complex; histone deacetylase complex; nucleoplasm
|
Molecular Function:
chromatin binding; DNA binding; metal ion binding; protein binding
|
Biological Process:
chromatin organization; negative regulation of transcription by RNA polymerase II
|
Disease: Neurodevelopmental Disorder With Macrocephaly And With Or Without Seizures
|
Reference #:
Q96BD5
(UniProtKB)
|
Alt. Names/Synonyms: BHC80; BHC80a; BM-006; BRAF35-HDAC complex protein BHC80; BRAF35/HDAC2 complex; BRAF35/HDAC2 complex (80 kDa); IDDBCS; KIAA1696; NEDMS; PF21A; PHD finger protein 21A; PHF21A
|
Gene Symbols: PHF21A
|
Molecular weight:
74,854 Da
|
Basal Isoelectric point:
9.51
Predict pI for various phosphorylation states
|