Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PHF1 Gene

protein-coding   GIFtS: 64
GCID: GC06P033379

PHD Finger Protein 1

  See PHF1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
PHD Finger Protein 11 2     hPHF12 3
Tudor Domain Containing 19C1 2     MTF2L22
Polycomb-Like Protein 12 3     PHF22
PCL12 3     TDRD19C2
hPCl12 3     Protein PHF13

External Ids:    HGNC: 89191   Entrez Gene: 52522   Ensembl: ENSG000001125117   OMIM: 6028815   UniProtKB: O431893   
ORGUL members:         

Export aliases for PHF1 gene to outside databases

Previous GC identifers: GC06P033381 GC06P033425 GC06P033486 GC06Po33518 GC06P033120


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for PHF1 Gene:
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)

GeneCards Summary for PHF1 Gene:
PHF1 (PHD finger protein 1) is a protein-coding gene. Diseases associated with PHF1 include ossifying fibromyxoid tumor. GO annotations related to this gene include methylated histone residue binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PHF19.

UniProtKB/Swiss-Prot: PHF1_HUMAN, O43189
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

Gene Wiki entry for PHF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_007592.16  NT_167249.2  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PHF1 gene promoter:
         AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHF1 promoter sequence
   Search Chromatin IP Primers for PHF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

PHF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHF1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P033379:  view genomic region     (about GC identifiers)

Start:
33,378,176 bp from pter      End:
33,384,230 bp from pter
Size:
6,055 bases      Orientation:
plus strand

1 alternative location:
Chr6+,NT_167249 4,859,021-4,864,476     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for PHF1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: PHF1_HUMAN, O43189 (See protein sequence)
Recommended Name: PHD finger protein 1  
Size: 567 amino acids; 62106 Da
Subunit: Interacts with CHMP1 (By similarity). Associated component of the PRC2 complex. Interacts with p53/TP53
3 PDB 3D structures from and Proteopedia for PHF1:
2E5P (3D)        2M0O (3D)        4HCZ (3D)    
Secondary accessions: B1AZX2 B1AZX3 O60929 Q5SU07 Q5SU08 Q96KM7
Alternative splicing: 2 isoforms:  O43189-1   O43189-2   (Contains a phosphoserine at position 360)

Explore the universe of human proteins at neXtProt for PHF1: NX_O43189

Explore proteomics data for PHF1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys172
  • Modification sites at PhosphoSitePlus

  • See PHF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_002627.1  NP_077084.1  

    ENSEMBL proteins: 
     ENSP00000410494   ENSP00000432419   ENSP00000392697   ENSP00000363636   ENSP00000363640  
     ENSP00000434347   ENSP00000404788  
    Reactome Protein details: O43189

    PHF1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for PHF1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PHF1
    GenScript Custom Purified and Recombinant Proteins Services for PHF1
    Novus Biologicals PHF1 Proteins
    Novus Biologicals PHF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PHF1

     
    Search eBioscience for Proteins for PHF1 

     
    antibodies-online proteins for PHF1 (4 products) 

     
    antibodies-online peptides for PHF1

    PHF1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for PHF1
    OriGene Custom Antibody Services for PHF1
    Novus Biologicals PHF1 Antibodies
    Abcam antibodies for PHF1
    Cloud-Clone Corp. Antibodies for PHF1
    ThermoFisher Antibodies for PHF1
    antibodies-online antibodies for PHF1 (39 products) 

    PHF1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PHF1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PHF1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PHF1
    Cloud-Clone Corp. CLIAs for PHF1
    Search eBioscience for ELISAs for PHF1 
    antibodies-online kits for PHF1 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    TDRD: Tudor domain containing
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 7):
     IPR001965 Znf_PHD
     IPR013083 Znf_RING/FYVE/PHD
     IPR025894 Mtf2_C_dom
     IPR019786 Zinc_finger_PHD-type_CS
     IPR011011 Znf_FYVE_PHD

    Graphical View of Domain Structure for InterPro Entry O43189

    ProtoNet protein and cluster: O43189

    2 Blocks protein domains:
    IPB001965 Zn-finger-like
    IPB002999 Tudor domain


    UniProtKB/Swiss-Prot: PHF1_HUMAN, O43189
    Domain: The Tudor domain recognizes and binds H3K36me3 (PubMed:23228662, PubMed:23273982 and PubMed:23142980)
    Similarity: Belongs to the Polycomblike family
    Similarity: Contains 2 PHD-type zinc fingers
    Similarity: Contains 1 Tudor domain


    Find genes that share domains with PHF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHF1_HUMAN, O43189
    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

         Genatlas biochemistry entry for PHF1:
    PHD finger protein 1,Drosophila polycomb-like homolog,involved in the epigenetic regulation of developmental genes

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003700sequence-specific DNA binding transcription factor activity TAS9545646
    GO:0005515protein binding ----
    GO:0008270zinc ion binding IEA--
    GO:0035064methylated histone residue binding IDA--
         
    Find genes that share ontologies with PHF1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PHF1:
     Increased HPV18 LCR reporter a  Synthetic lethal with c-Myc af 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PHF1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat PHF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHF1 (see all 23):
    hsa-miR-320a hsa-miR-495 hsa-miR-106a hsa-miR-485-3p hsa-miR-1257 hsa-miR-661 hsa-miR-93 hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidPHF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PHF1
    Predesigned siRNA for gene silencing in human, mouse, rat PHF1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PHF1

    Clone
    Products:
         
    OriGene clones in human, mouse for PHF1 (see all 12)
    OriGene ORF clones in mouse, rat for PHF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PHF1 (NM_024165)
    Sino Biological Human cDNA Clone for PHF1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PHF1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PHF1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    PHF1_HUMAN, O43189: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--
    GO:0005815microtubule organizing center IEA--
    GO:0035098colocalizes with ESC/E(Z) complex IDA--

    Find genes that share ontologies with PHF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus


    Find genes that share SuperPaths with PHF1           About GenesLikeMe

    Pathways by sourceSee SuperPaths
    Show all pathways



    1 Reactome Pathway for PHF1
        PRC2 methylates histones and DNA


        Pathway & Disease-focused RT2 Profiler PCR Arrays including PHF1: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PHF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PHF1 (O431892, 3 ENSP000003636404) via UniProtKB, MINT, STRING, and/or I2D (see all 74)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313I2D: score=9 
    HIST1H3BP684313I2D: score=9 
    HIST1H3CP684313I2D: score=9 
    HIST1H3DP684313I2D: score=9 
    HIST1H3EP684313I2D: score=9 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006974cellular response to DNA damage stimulus IDA--
    GO:0016568chromatin modification IEA--
    GO:0061086negative regulation of histone H3-K27 methylation IMP--
    GO:0061087positive regulation of histone H3-K27 methylation IMP--

    Find genes that share ontologies with PHF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PHF1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for PHF1 gene (2 alternative transcripts): 
    NM_002636.4  NM_024165.2  

    Unigene Cluster for PHF1:

    PHD finger protein 1
    Hs.166204  [show with all ESTs]
    Unigene Representative Sequence: NM_024165
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000427004 ENST00000487667 ENST00000428274 ENST00000459809 ENST00000374512(uc003oei.3)
    ENST00000374516(uc003oeh.3 uc011drh.2 uc010jux.3) ENST00000495509
    ENST00000488767 ENST00000486845 ENST00000427826 ENST00000479029
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PHF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PHF1 (see all 23):
    hsa-miR-320a hsa-miR-495 hsa-miR-106a hsa-miR-485-3p hsa-miR-1257 hsa-miR-661 hsa-miR-93 hsa-miR-7-1*
    SwitchGear 3'UTR luciferase reporter plasmidPHF1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PHF1
    Predesigned siRNA for gene silencing in human, mouse, rat PHF1
    Clone
    Products:
         
    OriGene clones in human, mouse for PHF1 (see all 12)
    OriGene ORF clones in mouse, rat for PHF1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): PHF1 (NM_024165)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PHF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PHF1
    OriGene qSTAR qPCR primer pairs in human, mouse for PHF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHF1
      QuantiTect SYBR Green Assays in human, mouse, rat PHF1
      QuantiFast Probe-based Assays in human, mouse, rat PHF1

    Additional mRNA sequence: 

    AF029678.1 AF052205.1 BC008834.2 NR_027692.1 

    15 DOTS entries:

    DT.444120  DT.97844894  DT.100778341  DT.100778342  DT.40131655  DT.95196575  DT.95173098  DT.100028234 
    DT.92007125  DT.97844895  DT.100677387  DT.75154252  DT.91734327  DT.97844893  DT.95213588 

    Selected AceView cDNA sequences (see all 425):

    CA414839 BU848756 BQ109557 AA504321 BF802955 AA682855 BC008834 BG108053 
    CA398217 AI784045 NM_024165 BI759891 AI918176 AI422202 AI674570 AI392961 
    AI990662 BF109796 CA398218 BF437760 AI025533 BQ639084 BQ008130 BX101402 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PHF1 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^
    SP1:                                      -                             -                                                                                       
    SP2:                                      -                             -                                                     -                 -     -     -   
    SP3:                                                                                                                          -                                 
    SP4:                                      -                                                                                                                     
    SP5:                                                                                                                          -                                 

    ExUns: 16 ^ 17a · 17b · 17c · 17d · 17e
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for PHF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    PHF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTCCTGACC
    PHF1 Expression
    About this image


    PHF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
     
     Lung (Respiratory System)
     
     Testis (Reproductive System)
    PHF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.166204

    UniProtKB/Swiss-Prot: PHF1_HUMAN, O43189
    Tissue specificity: Highest levels in heart, skeletal muscle, and pancreas, lower levels in brain, placenta, lung,
    liver and kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PHF1: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PHF1
    OriGene qSTAR qPCR primer pairs in human, mouse for PHF1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHF1
    QuantiTect SYBR Green Assays in human, mouse, rat PHF1
    QuantiFast Probe-based Assays in human, mouse, rat PHF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for PHF1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phf11 , 5 PHD finger protein 11, 5 90.04(n)1
    93.74(a)1
      17 (13.60 cM)5
    216521  NM_009343.21  NP_033369.21 
     269331275 
    lizard
    (Anolis carolinensis)
    Reptilia PHF16
    PHD finger protein 1
    59(a)
    1 ↔ 1
    AAWZ02040018(2678-7492)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3981422 polycomblike PCL1 73.46(n)    AF130453.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003343451 PHD finger protein 1-like 56.16(n)
    52.53(a)
      100334345  XM_002665011.3  XP_002665057.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pcl3   -- 31(a)   2 55B8   --


    ENSEMBL Gene Tree for PHF1 (if available)
    TreeFam Gene Tree for PHF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for PHF1 gene
    PHF192  MTF22  
    2 SIMAP similar genes for PHF1 using alignment to 6 protein entries:     PHF1_HUMAN (see all proteins):
    PHF19    MTF2

    Find genes that share paralogs with PHF1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for PHF1 (see all 149)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs734160531,2
    C--33379102(+) CGACAG/CAAGTC 3 -- int11Minor allele frequency- C:0.50WA 2
    rs1440924371,2
    C--33379206(+) GGGAG-/CCCCGA 3 -- int10--------
    rs44571561,2
    C,F,H--33379218(+) TTTGAG/AGGTGA 3 -- int18Minor allele frequency- A:0.01NS EA 1042
    rs1131338741,2
    C--33379903(+) CACTGC/TACTCT 3 -- int10--------
    rs1382369831,2
    C--33380066(+) GAGCCG/ACTCTG 5 /H /R mis11Minor allele frequency- A:0.00NA 4458
    rs69346131,2,,4
    C,H--33380164(+) GATGGA/TCTGAT 5 T S mis1 ese35Minor allele frequency- T:0.00NS EA NA 408
    rs1432610731,2
    C--33380199(+) AAAAAG/AGTAAG 5 /K syn11Minor allele frequency- A:0.00NA 4550
    rs2000366601,2
    --33380258(+) CCCATC/TTCATC 3 -- int10--------
    rs1908847161,2
    C--33380332(+) GATTCA/GCAGTT 5 S syn10--------
    rs1136881661,2
    C--33380367(+) CCCTGC/GTAAGA 3 -- spd11Minor allele frequency- G:0.00CSA 1

    HapMap Linkage Disequilibrium report for PHF1 (33378176 - 33384230 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PHF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv885769CNV Loss21882294
    nsv830637CNV Loss17160897
    nsv830635CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHF1
    DNA2.0 Custom Variant and Variant Library Synthesis for PHF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 602881    OMIM disorders: --

    UniProtKB/Swiss-Prot: PHF1_HUMAN, O43189
  • 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

  • 1 disease for PHF1:    
    About MalaCards
    ossifying fibromyxoid tumor

    2 diseases from the University of Copenhagen DISEASES database for PHF1:
    Alzheimer's disease     Endometrial stromal sarcoma

    Find genes that share disorders with PHF1           About GenesLikeMe

    Genetic Association Database (GAD): PHF1
    Human Genome Epidemiology (HuGE) Navigator: PHF1 (3 documents)

    Export disorders for PHF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for PHF1 gene, integrated from 10 sources (see all 35):
    (articles sorted by number of sources associating them with PHF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A polycomb group protein, PHF1, is involved in the response to DNA double-strand breaks in human cell. (PubMed id 18385154)1, 2, 3 Hong Z.... Yasui A. (Nucleic Acids Res. 2008)
    2. The identification and localization of a human gene with sequence similarity to Polycomblike of Drosophila melanogaster. (PubMed id 9545646)1, 2, 3 Coulson M.... Saint R. (Genomics 1998)
    3. Polycomb group protein PHF1 regulates p53-dependent cell growth arrest and apoptosis. (PubMed id 23150668)1, 2 Yang Y.... Yu L. (J. Biol. Chem. 2013)
    4. Tudor domains of the PRC2 components PHF1 and PHF19 selectively bind to histone H3K36me3. (PubMed id 23228662)1, 2 Qin S.... Min J. (Biochem. Biophys. Res. Commun. 2013)
    5. Molecular basis for H3K36me3 recognition by the Tudor domain of PHF1. (PubMed id 23142980)1, 2 Musselman C.A.... Kutateladze T.G. (Nat. Struct. Mol. Biol. 2012)
    6. Characterization of hNek6 interactome reveals an important role for its short N-terminal domain and colocalization with proteins at the centrosome. (PubMed id 20873783)1, 2 Vaz Meirelles G.... Kobarg J. (J. Proteome Res. 2010)
    7. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    8. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    9. Role of hPHF1 in H3K27 methylation and Hox gene silencing. (PubMed id 18086877)1, 2 Cao R.... Zhang Y. (Mol. Cell. Biol. 2008)
    10. Ezh2 requires PHF1 to efficiently catalyze H3 lysine 27 trimethylation in vivo. (PubMed id 18285464)1, 2 Sarma K.... Reinberg D. (Mol. Cell. Biol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 5252 HGNC: 8919 AceView: PHF1andKIFC1 Ensembl:ENSG00000112511 euGenes: HUgn5252
    ECgene: PHF1 H-InvDB: PHF1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for PHF1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PHF1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for PHF1 gene:
    Search GeneIP for patents involving PHF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for PHF1   OriGene RNAi products in human, mouse, rat for PHF1  
     OriGene qPCR primer pairs and template standards for PHF1   OriGene Protein Over-expression Lysate for PHF1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for PHF1  
     OriGene qSTAR qPCR primer pairs in human, mouse for PHF1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for PHF1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for PHF1   OriGene Custom Protein Services for PHF1  

     
     
     Block miRNA regulation of human, mouse, rat PHF1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing PHF1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHF1 Predesigned siRNA for gene silencing in human, mouse, rat PHF1
     QuantiFast Probe-based Assays in human, mouse, rat PHF1 QuantiTect SYBR Green Assays in human, mouse, rat PHF1
     PCR Arrays including human, mouse, rat PHF1 Search Chromatin IP Primers for PHF1
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHF1  GeneGlobe Interaction Network for PHF1
     Regulatory tfbs in PHF1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for PHF1 GenScript cDNA clones with any tag delivered in your preferred vector for PHF1
     GenScript Custom Assay Services for PHF1 GenScript Custom overexpressing Cell Line Services for PHF1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for PHF1
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     cDNA Clones for PHF1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     PHF1 antibodies
     PHF1 proteins
     PHF1 lysates
     Antibodies for PHF1
     See all of Abcam's Antibodies, Kits and Proteins for PHF1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for PHF1
     Antibodies for PHF1
     ELISAs for PHF1
     CLIAs for PHF1



     Browse ESI BIO Cell Lines and PureStem Progenitors for PHF1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHF1
     SwitchGear 3'UTR luciferase reporter plasmids for PHF1
     SwitchGear Promoter luciferase reporter plasmids for PHF1
     ThermoFisher Antibodies for PHF1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHF1
     Browse compounds at ApexBio
     Search Addgene for plasmids for PHF1
      Search eBioscience for proteins for PHF1
      Search eBioscience for elisas for PHF1
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for PHF1
     antibodies-online antibodies for PHF1 (39 products)
     antibodies-online kits for PHF1 (4 products)
     antibodies-online peptides for PHF1
     antibodies-online proteins for PHF1 (4 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      PHF1 gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4