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

    Gene ID: 70998, updated on 9-Dec-2024

    Summary

    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; gonad; nervous system; sensory organ; and skin. Used to study Borjeson-Forssman-Lehmann syndrome. Human ortholog(s) of this gene implicated in Borjeson-Forssman-Lehmann syndrome; acute myeloid leukemia; and congestive heart failure. Orthologous to human PHF6 (PHD finger protein 6). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in CNS E11.5 (RPKM 18.3), whole brain E14.5 (RPKM 16.6) and 14 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Phf6 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphoprotein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ribonucleoprotein complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ribonucleoprotein complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables scaffold protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables scaffold protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables tubulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tubulin binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in kinetochore IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    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 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001290546.1NP_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:132249
      ePHD2_PHF6; Extended PHD finger 2 found in PHD finger protein 6 (PHF6)
      cl22851
      Location:151
      PHD_SF; PHD finger superfamily
    2. NM_027642.2NP_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:17131
      ePHD1_PHF6; Extended PHD finger 1 found in PHD finger protein 6 (PHF6)
      cd15711
      Location:212329
      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)