PHF1
entrez
5252
canonical
uniprot
O43189
canonical
ensembl
ENSG00000112511
resolver
ensembl
ENSG00000225553
resolver
ensp
ENSP00000363636
resolver
ensp
ENSP00000363640
resolver
ensp
ENSP00000391901
resolver
ensp
ENSP00000407295
resolver
ensp
ENSP00000529059
resolver
ensp
ENSP00000529068
resolver
ensp
ENSP00000667374
resolver
ensp
ENSP00000721454
resolver
enst
ENST00000427869
resolver
enst
ENST00000454914
resolver
genesymbol
PHF1
resolver
genesymbol_syn
PCL1
resolver
hgnc
HGNC:8919
resolver
uniprot
A0A140VJR4
resolver
uniprot
B1AZX2
resolver
uniprot
B1AZX3
resolver
uniprot
O60929
resolver
uniprot
Q5SU07
resolver
uniprot
Q5SU08
resolver
uniprot
Q96KM7
resolver
uniprot_entry
A0A140VJR4_HUMAN
resolver
uniprot_entry
PHF1_HUMAN
resolver
uniprot_sec
B1AZX2
resolver
uniprot_sec
B1AZX3
resolver
uniprot_sec
O60929
resolver
uniprot_sec
Q5SU07
resolver
uniprot_sec
Q5SU08
resolver
uniprot_sec
Q96KM7
resolver
amino_acid_sequence
MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLCCVCRSETVVPGNRLVSCEKCRHAYHQDCHVPRAPAPGEGEGTSWVCRQCVFAIATKRGGALKKGPYARAMLGMKLSLPYGLKGLDWDAGHLSNRQQSYCYCGGPGEWNLKMLQCRSCLQWFHEACTQCLSKPLLYGDRFYEFECCVCRGGPEKVRRLQLRWVDVAHLVLYHLSVCCKKKYFDFDREILPFTSENWDSLLLGELSDTPKGERSSRLLSALNSHKDRFISGREIKKRKCLFGLHARMPPPVEPPTGDGALTSFPSGQGPGGGVSRPLGKRRRPEPEPLRRRQKGKVEELGPPSAVRNQPEPQEQRERAHLQRALQASVSPPSPSPNQSYQGSSGYNFRPTDARCLPSSPIRMFASFHPSASTAGTSGDSGPPDRSPLELHIGFPTDIPKSAPHSMTASSSSVSSPSPGLPRRSAPPSPLCRSLSPGTGGGVRGGVGYLSRGDPVRVLARRVRPDGSVQYLVEWGGGGIF
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:16397222, ECO:0000269|PubMed:22761769}.
uniprot
proteins
function
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, 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:0000269|PubMed:18086877, ECO:0000269|PubMed:18285464, ECO:0000269|PubMed:18385154, ECO:0000269|PubMed:23142980, ECO:0000269|PubMed:23150668, ECO:0000269|PubMed:23273982}.
uniprot
proteins
mass_dalton
62106
uniprot
proteins
mutagenesis
MUTAGEN 41; /note="W->A: Abolishes histone H3K36me3-binding and localization at double-strand breaks (DSBs)."; /evidence="ECO:0000269|PubMed:23142980, ECO:0000269|PubMed:23273982"; MUTAGEN 47; /note="Y->A: Abolishes histone H3K36me3-binding."; /evidence="ECO:0000269|PubMed:23142980, ECO:0000269|PubMed:23273982"; MUTAGEN 65; /note="F->A: Abolishes histone H3K36me3-binding."; /evidence="ECO:0000269|PubMed:23273982"; MUTAGEN 66; /note="E->K: Impairs histone H3K36me3-binding."; /evidence="ECO:0000269|PubMed:23273982"; MUTAGEN 71; /note="F->A: Abolishes histone H3K36me3-binding."; /evidence="ECO:0000269|PubMed:23273982
uniprot
proteins
protein_family
Polycomblike family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16397222
uniprot
proteins
pubmed
18086877
uniprot
proteins
pubmed
18285464
uniprot
proteins
pubmed
18385154
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
20873783
uniprot
proteins
pubmed
22761769
uniprot
proteins
pubmed
23142980
uniprot
proteins
pubmed
23150668
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23228662
uniprot
proteins
pubmed
23273982
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
9545646
uniprot
proteins
sequence_length
567
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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.
uniprot
proteins