Human Gene PHF1 (ENST00000374516.8) from GENCODE V44
  Description: Homo sapiens PHD finger protein 1 (PHF1), transcript variant 3, non-coding RNA. (from RefSeq NR_027692)
RefSeq Summary (NM_024165): This gene encodes a Polycomb group protein. The protein is a component of a histone H3 lysine-27 (H3K27)-specific methyltransferase complex, and functions in transcriptional repression of homeotic genes. The protein is also recruited to double-strand breaks, and reduced protein levels results in X-ray sensitivity and increased homologous recombination. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009].
Gencode Transcript: ENST00000374516.8
Gencode Gene: ENSG00000112511.18
Transcript (Including UTRs)
   Position: hg38 chr6:33,411,014-33,416,439 Size: 5,426 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr6:33,412,264-33,416,098 Size: 3,835 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:33,411,014-33,416,439)mRNA (may differ from genome)Protein (567 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PHF1_HUMAN
DESCRIPTION: RecName: Full=PHD finger protein 1; Short=Protein PHF1; AltName: Full=Polycomb-like protein 1; Short=hPCl1;
FUNCTION: Transcriptional repressor. May promote methylation of histone H3 on 'Lys-27' by the PRC2/EED-EZH2 complex.
SUBUNIT: Interacts with CHMP1 (By similarity). Interacts with the PRC2 complex.
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, cytoskeleton, centrosome. Note=Localizes specifically to the promoters of numerous target genes. Co-localizes with NEK6 in the centrosome.
TISSUE SPECIFICITY: Highest levels in heart, skeletal muscle, and pancreas, lower levels in brain, placenta, lung, liver and kidney.
SIMILARITY: Contains 2 PHD-type zinc fingers.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: PHF1
Diseases sorted by gene-association score: endometrial stromal sarcoma (4), heart sarcoma (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 112.12 RPKM in Testis
Total median expression: 1874.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -100.30218-0.460 Picture PostScript Text
3' UTR -112.30341-0.329 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR025894 - Mtf2_C_dom
IPR002999 - Tudor
IPR019786 - Zinc_finger_PHD-type_CS
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR019787 - Znf_PHD-finger
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF14061 - Polycomb-like MTF2 factor 2
PF00628 - PHD-finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2E5P - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O43189
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0035064 methylated histone binding
GO:0046872 metal ion binding

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006974 cellular response to DNA damage stimulus
GO:0031060 regulation of histone methylation
GO:0045814 negative regulation of gene expression, epigenetic
GO:0061086 negative regulation of histone H3-K27 methylation
GO:0061087 positive regulation of histone H3-K27 methylation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005856 cytoskeleton
GO:0035861 site of double-strand break
GO:0005813 centrosome
GO:0035098 ESC/E(Z) complex


-  Descriptions from all associated GenBank mRNAs
  HM005453 - Homo sapiens clone HTL-T-140 testicular tissue protein Li 140 mRNA, complete cds.
AK225913 - Homo sapiens mRNA for PHD finger protein 1 isoform b variant, clone: FCC118G11.
BC008834 - Homo sapiens PHD finger protein 1, mRNA (cDNA clone MGC:12771 IMAGE:4304525), complete cds.
AK316499 - Homo sapiens cDNA, FLJ79398 complete cds, highly similar to Homo sapiens PHD finger protein 1 (PHF1), transcript variant 1, mRNA.
JD439593 - Sequence 420617 from Patent EP1572962.
JD142478 - Sequence 123502 from Patent EP1572962.
AK295412 - Homo sapiens cDNA FLJ61267 complete cds, highly similar to Homo sapiens PHD finger protein 1 (PHF1), transcript variant 1, mRNA.
AF029678 - Homo sapiens PHD Finger 1 (PHF1) mRNA, complete cds.
AF052205 - Homo sapiens PHD finger protein 2 (PHF2) mRNA, complete cds.
LF210756 - JP 2014500723-A/18259: Polycomb-Associated Non-Coding RNAs.
MA446333 - JP 2018138019-A/18259: Polycomb-Associated Non-Coding RNAs.
CU679137 - Synthetic construct Homo sapiens gateway clone IMAGE:100018365 5' read PHF1 mRNA.
DQ896419 - Synthetic construct Homo sapiens clone IMAGE:100010879; FLH194142.01L; RZPDo839F1169D PHD finger protein 1 (PHF1) gene, encodes complete protein.
EU176431 - Synthetic construct Homo sapiens clone IMAGE:100006508; FLH194146.01X; RZPDo839F1179D PHD finger protein 1 (PHF1) gene, encodes complete protein.
KJ891795 - Synthetic construct Homo sapiens clone ccsbBroadEn_01189 PHF1 gene, encodes complete protein.
AK299162 - Homo sapiens cDNA FLJ56928 complete cds, highly similar to Homo sapiens PHD finger protein 1 (PHF1), transcript variant 1, mRNA.
DQ584489 - Homo sapiens piRNA piR-51601, complete sequence.
LF340875 - JP 2014500723-A/148378: Polycomb-Associated Non-Coding RNAs.
MA576452 - JP 2018138019-A/148378: Polycomb-Associated Non-Coding RNAs.
LF340876 - JP 2014500723-A/148379: Polycomb-Associated Non-Coding RNAs.
MA576453 - JP 2018138019-A/148379: Polycomb-Associated Non-Coding RNAs.
LF340877 - JP 2014500723-A/148380: Polycomb-Associated Non-Coding RNAs.
MA576454 - JP 2018138019-A/148380: Polycomb-Associated Non-Coding RNAs.
JD124475 - Sequence 105499 from Patent EP1572962.
JD449534 - Sequence 430558 from Patent EP1572962.
JD391173 - Sequence 372197 from Patent EP1572962.
JD481047 - Sequence 462071 from Patent EP1572962.
JD473042 - Sequence 454066 from Patent EP1572962.
JD124257 - Sequence 105281 from Patent EP1572962.
JD119981 - Sequence 101005 from Patent EP1572962.
JD327513 - Sequence 308537 from Patent EP1572962.
JD516202 - Sequence 497226 from Patent EP1572962.
JD126440 - Sequence 107464 from Patent EP1572962.
JD157181 - Sequence 138205 from Patent EP1572962.
JD171492 - Sequence 152516 from Patent EP1572962.
JD439664 - Sequence 420688 from Patent EP1572962.
LF340878 - JP 2014500723-A/148381: Polycomb-Associated Non-Coding RNAs.
MA576455 - JP 2018138019-A/148381: Polycomb-Associated Non-Coding RNAs.
JD041630 - Sequence 22654 from Patent EP1572962.
JD481088 - Sequence 462112 from Patent EP1572962.
LF340879 - JP 2014500723-A/148382: Polycomb-Associated Non-Coding RNAs.
MA576456 - JP 2018138019-A/148382: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O43189 (Reactome details) participates in the following event(s):

R-HSA-212263 PRC2 trimethylates histone H3 at lysine-27
R-HSA-212300 PRC2 methylates histones and DNA
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B1AZX2, B1AZX3, ENST00000374516.1, ENST00000374516.2, ENST00000374516.3, ENST00000374516.4, ENST00000374516.5, ENST00000374516.6, ENST00000374516.7, NR_027692, O43189, O60929, PCL1, PHF1_HUMAN, Q5SU07, Q5SU08, Q96KM7, uc003oeh.1, uc003oeh.2, uc003oeh.3, uc003oeh.4, uc003oeh.5
UCSC ID: ENST00000374516.8
RefSeq Accession: NM_024165
Protein: O43189 (aka PHF1_HUMAN)
CCDS: CCDS4777.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.