InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PHF1

Summary

InnateDB Protein

IDBP-82787.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PHF1

Protein Name

PHD finger protein 1

Synonyms

hPHF1; MTF2L2; PCL1; PHF2; TDRD19C;

Species

Homo sapiens

Ensembl Protein

ENSP00000363640

InnateDB Gene

IDBG-82785 (PHF1)

Protein Structure

UniProt Annotation

Function

Polycomb group (PcG) that specifically binds histone H3 trimethylated at 'Lys-36' (H3K36me3) and recruits the PRC2 complex. Involved in DNA damage response and is recruited at double-strand breaks (DSBs). Acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex: it is however unclear whether recruitment of the PRC2 complex to H3K36me3 leads to enhance or inhibit H3K27me3 methylation mediated by the PRC2 complex. According to some reports, PRC2 recruitment by PHF1 promotes H3K27me3 and subsequent gene silencing by inducing spreading of PRC2 and H3K27me3 into H3K36me3 loci (PubMed:18285464 and PubMed:23273982). According to another report, PHF1 recruits the PRC2 complex at double-strand breaks (DSBs) and inhibits the activity of PRC2 (PubMed:23142980). Regulates p53/TP53 stability and prolonges its turnover: may act by specifically binding to a methylated from of p53/TP53. {ECO:0000269PubMed:18086877, ECO:0000269PubMed:18285464, ECO:0000269PubMed:18385154, ECO:0000269PubMed:23142980, ECO:0000269PubMed:23150668, ECO:0000269PubMed:23273982}.

Subcellular Localization

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Localizes specifically to the promoters of numerous target genes. Localizes to double-strand breaks (DSBs) sites following DNA damage. Co- localizes with NEK6 in the centrosome.

Disease Associations

Note=A chromosomal aberration involving PHF1 may be a cause of endometrial stromal tumors. Translocation t(6;7)(p21;p22) with JAZF1. Translocation t(1;6)(p34;p21) with MEAF6. {ECO:0000269PubMed:16397222, ECO:0000269PubMed:22761769}.

Tissue Specificity

Highest levels in heart, skeletal muscle, and pancreas, lower levels in brain, placenta, lung, liver and kidney.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 35 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	35 [view]
Protein-Protein	35 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0035064	methylated histone binding

Biological Process

GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006974	cellular response to DNA damage stimulus
GO:0016568	chromatin modification
GO:0061086	negative regulation of histone H3-K27 methylation
GO:0061087	positive regulation of histone H3-K27 methylation