PHF1 (PHD finger protein 1)

2006-08-01  

Identity

HGNC
LOCATION
6p21.32
LOCUSID
ALIAS
MTF2L2,PCL1,PHF2,TDRD19C,hPHF1
FUSION GENES

Other Information

Locus ID:

NCBI: 5252
MIM: 602881
HGNC: 8919
Ensembl: ENSG00000112511

Variants:

dbSNP: 5252
ClinVar: 5252
TCGA: ENSG00000112511
COSMIC: PHF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112511ENST00000374512O43189
ENSG00000112511ENST00000374512A0A1U9X8A3
ENSG00000112511ENST00000374516O43189
ENSG00000112511ENST00000427004A2AB22
ENSG00000112511ENST00000427826A2AB25
ENSG00000112511ENST00000428274A2AB23
ENSG00000112511ENST00000459809A0A087WVG4
ENSG00000112511ENST00000487667E9PQZ5
ENSG00000112511ENST00000495509E9PQT8

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
PRC2 methylates histones and DNAREACTOMER-HSA-212300

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
182854642008Ezh2 requires PHF1 to efficiently catalyze H3 lysine 27 trimethylation in vivo.103
231040542012Phf19 links methylated Lys36 of histone H3 to regulation of Polycomb activity.72
180868772008Role of hPHF1 in H3K27 methylation and Hox gene silencing.67
231429802012Molecular basis for H3K36me3 recognition by the Tudor domain of PHF1.65
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
183851542008A polycomb group protein, PHF1, is involved in the response to DNA double-strand breaks in human cell.45
242854342014Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.30
242854342014Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.30
227964362012Recurrent rearrangement of the PHF1 gene in ossifying fibromyxoid tumors.19

Citation

Dessen P

PHF1 (PHD finger protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-08-01

Online version: http://atlasgeneticsoncology.org/gene/42976/phf1