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    Phf6 PHD finger protein 6 [ Mus musculus (house mouse) ]

    Gene ID: 70998, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Phf6provided by MGI
    Official Full Name
    PHD finger protein 6provided by MGI
    Primary source
    MGI:MGI:1918248
    See related
    Ensembl:ENSMUSG00000025626 AllianceGenome:MGI:1918248
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA1823; 2700007B13Rik; 4931428F02Rik
    Summary
    Predicted to enable several functions, including histone deacetylase binding activity; phosphoprotein binding activity; and scaffold protein binding activity. Acts upstream of or within blastocyst hatching. Located in nucleus. Is expressed in several structures, including alimentary system; nervous system; sensory organ; skin; and testis. Used to study Borjeson-Forssman-Lehmann syndrome. Human ortholog(s) of this gene implicated in Borjeson-Forssman-Lehmann syndrome. Orthologous to human PHF6 (PHD finger protein 6). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in CNS E11.5 (RPKM 18.3), whole brain E14.5 (RPKM 16.6) and 14 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X A5; X 29.28 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (52001091..52045838)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (52912214..52956961)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene POU domain, class 5, transcription factor 1, related sequence 8 Neighboring gene ribosomal protein S2, pseudogene 13 Neighboring gene hypoxanthine phosphoribosyltransferase 1 Neighboring gene predicted gene, 57846 Neighboring gene microRNA 450b

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Epigenetic reversal of hematopoietic stem cell aging in Phf6-knockout mice. Wendorff AA, et al. Nat Aging, 2022 Nov. PMID 37118089
    2. Phf6-null hematopoietic stem cells have enhanced self-renewal capacity and oncogenic potentials. Hsu YC, et al. Blood Adv, 2019 Aug 13. PMID 31395598, Free PMC Article
    3. PHF6 regulates phenotypic plasticity through chromatin organization within lineage-specific genes. Soto-Feliciano YM, et al. Genes Dev, 2017 May 15. PMID 28607179, Free PMC Article
    4. Oncogenesis induced by combined Phf6 and Idh2 mutations through increased oncometabolites and impaired DNA repair. Chen TC, et al. Oncogene, 2022 Mar. PMID 35091680
    5. PHF6 and JAK3 mutations cooperate to drive T-cell acute lymphoblastic leukemia progression. Yuan S, et al. Leukemia, 2022 Feb. PMID 34465864, Free PMC Article

    See all (45) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.
      Title: PHF6-mediated transcriptional control of NSC via Ephrin receptors is impaired in the intellectual disability syndrome BFLS.
    2. PHF6 maintains acute myeloid leukemia via regulating NF-kappaB signaling pathway.
      Title: PHF6 maintains acute myeloid leukemia via regulating NF-κB signaling pathway.
    3. Epigenetic reversal of hematopoietic stem cell aging in Phf6-knockout mice.
      Title: Epigenetic reversal of hematopoietic stem cell aging in Phf6-knockout mice.
    4. Oncogenesis induced by combined Phf6 and Idh2 mutations through increased oncometabolites and impaired DNA repair.
      Title: Oncogenesis induced by combined Phf6 and Idh2 mutations through increased oncometabolites and impaired DNA repair.
    5. Transgenic mice with an R342X mutation in Phf6 display clinical features of Borjeson-Forssman-Lehmann Syndrome.
      Title: Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson-Forssman-Lehmann Syndrome.
    6. PHF6 and JAK3 mutations cooperate to drive T-cell acute lymphoblastic leukemia progression.
      Title: PHF6 and JAK3 mutations cooperate to drive T-cell acute lymphoblastic leukemia progression.
    7. Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response.
      Title: Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response.
    8. Plant homeodomain finger protein 6 in the regulation of normal and malignant hematopoiesis.
      Title: Plant homeodomain finger protein 6 in the regulation of normal and malignant hematopoiesis.
    9. Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Borjeson-Forssman-Lehman syndrome.
      Title: Downregulation of the GHRH/GH/IGF1 axis in a mouse model of Börjeson-Forssman-Lehman syndrome.
    10. our studies show the in vivo crucial roles of Phf6 in physiological and malignant hematopoiesis.
      Title: Phf6-null hematopoietic stem cells have enhanced self-renewal capacity and oncogenic potentials.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables histone deacetylase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone deacetylase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphoprotein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ribonucleoprotein complex binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables scaffold protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables tubulin binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within blastocyst hatching IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in chromosome, centromeric region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    PHD finger protein 6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001290546.1 → NP_001277475.1  PHD finger protein 6 isoform 2

      See identical proteins and their annotated locations for NP_001277475.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
      Source sequence(s)
      AK016480, AK028498, BC055330, CJ287261
      Consensus CDS
      CCDS72380.1
      UniProtKB/Swiss-Prot
      Q9D4J7
      Related
      ENSMUSP00000130358.2, ENSMUST00000154864.4
      Conserved Domains (2) summary
      cd15711
      Location:132 → 249
      ePHD2_PHF6; Extended PHD finger 2 found in PHD finger protein 6 (PHF6)
      cl22851
      Location:1 → 51
      PHD_SF; PHD finger superfamily

    2. NM_027642.2 → NP_081918.1  PHD finger protein 6 isoform 1

      See identical proteins and their annotated locations for NP_081918.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK016480, BC055330, CJ287261
      Consensus CDS
      CCDS30127.1
      UniProtKB/Swiss-Prot
      Q80T86, Q8BYT8, Q8C1B5, Q9D4J7
      UniProtKB/TrEMBL
      E9QAG2
      Related
      ENSMUSP00000077971.7, ENSMUST00000078944.13
      Conserved Domains (2) summary
      cd15710
      Location:17 → 131
      ePHD1_PHF6; Extended PHD finger 1 found in PHD finger protein 6 (PHF6)
      cd15711
      Location:212 → 329
      ePHD2_PHF6; Extended PHD finger 2 found in PHD finger protein 6 (PHF6)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      52001091..52045838
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D4J7.1 GenPept UniProtKB/Swiss-Prot:Q9D4J7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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