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    Phf8 PHD finger protein 8 [ Mus musculus (house mouse) ]

    Gene ID: 320595, updated on 26-Sep-2022

    Summary

    Official Symbol
    Phf8provided by MGI
    Official Full Name
    PHD finger protein 8provided by MGI
    Primary source
    MGI:MGI:2444341
    See related
    Ensembl:ENSMUSG00000041229 AllianceGenome:MGI:2444341
    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
    mKIAA1111; 9830141C09Rik
    Summary
    Predicted to enable several functions, including histone demethylase activity; methylated histone binding activity; and transition metal ion binding activity. Predicted to be involved in G1/S transition of mitotic cell cycle; histone lysine demethylation; and regulation of gene expression. Predicted to act upstream of or within chromatin organization. Predicted to be located in nuclear membrane; nucleolus; and nucleoplasm. Is expressed in several structures, including brain; early conceptus; olfactory epithelium; ovary; and vibrissa follicle. Used to study syndromic X-linked intellectual disability Siderius type. Human ortholog(s) of this gene implicated in syndromic X-linked intellectual disability Siderius type. Orthologous to human PHF8 (PHD finger protein 8). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in genital fat pad adult (RPKM 7.8), thymus adult (RPKM 4.9) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Phf8 in Genome Data Viewer
    Location:
    X; X F3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (150303621..150416855)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (151520641..151633859)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 120, member C Neighboring gene NSA2 ribosome biogenesis homolog pseudogene Neighboring gene ribosomal protein L39 pseudogene Neighboring gene predicted gene, 24460 Neighboring gene aldo-keto reductase family 1, member B3 pseudogene Neighboring gene predicted gene 15151

    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)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (4) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 2-oxoglutarate-dependent dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K27me2/H3K27me3 demethylase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone H3K36 demethylase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone H3K36me/H3K36me2 demethylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H3K9 demethylase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone H3K9me/H3K9me2 demethylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables histone H4K20 demethylase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables histone demethylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables histone demethylase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables iron ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables methylated histone binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables transcription coregulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables zinc ion binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in G1/S transition of mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within chromatin organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in histone H3-K27 demethylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in histone H3-K36 demethylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in histone H3-K9 demethylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in histone H4-K20 demethylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of rDNA heterochromatin formation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase I ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein demethylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    histone lysine demethylase PHF8
    Names
    [histone H3]-dimethyl-L-lysine(36) demethylase PHF8
    [histone H3]-dimethyl-L-lysine(9) demethylase PHF8
    NP_001106825.1
    NP_796175.1
    XP_006528938.1
    XP_006528940.1
    XP_006528941.1
    XP_006528942.1
    XP_006528943.1
    XP_030107232.1
    XP_030107233.1

    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_001113354.1NP_001106825.1  histone lysine demethylase PHF8 isoform b

      See identical proteins and their annotated locations for NP_001106825.1

      Status: VALIDATED

      Source sequence(s)
      AK040969, AK122447
      Consensus CDS
      CCDS53223.1
      UniProtKB/Swiss-Prot
      Q80TJ7, Q8CG26
      Related
      ENSMUSP00000127653.2, ENSMUST00000168501.8
      Conserved Domains (4) summary
      smart00558
      Location:199262
      JmjC; A domain family that is part of the cupin metalloenzyme superfamily
      cd15642
      Location:657
      PHD_PHF8; PHD finger found in histone lysine demethylase PHF8
      pfam17811
      Location:338441
      JHD; Jumonji helical domain
      cl21464
      Location:234334
      cupin_like; Conserved domain found in cupin and related proteins
    2. NM_177201.5NP_796175.1  histone lysine demethylase PHF8 isoform a

      See identical proteins and their annotated locations for NP_796175.1

      Status: VALIDATED

      Source sequence(s)
      AK036609, AK040969, AK122447, AL662922
      Consensus CDS
      CCDS30470.1
      UniProtKB/Swiss-Prot
      Q80TJ7
      UniProtKB/TrEMBL
      A2ABV3
      Related
      ENSMUSP00000108281.3, ENSMUST00000112662.9
      Conserved Domains (3) summary
      smart00558
      Location:199262
      JmjC; A domain family that is part of the cupin metalloenzyme superfamily
      cd15642
      Location:657
      PHD_PHF8; PHD finger found in histone lysine demethylase PHF8
      cl21464
      Location:234334
      cupin_like; Conserved domain found in cupin and related proteins

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    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
      150303621..150416855
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030251373.2XP_030107233.1  histone lysine demethylase PHF8 isoform X2

      Conserved Domains (4) summary
      smart00558
      Location:199262
      JmjC; A domain family that is part of the cupin metalloenzyme superfamily
      cd15642
      Location:657
      PHD_PHF8; PHD finger found in histone lysine demethylase PHF8
      pfam17811
      Location:338441
      JHD; Jumonji helical domain
      cl21464
      Location:234334
      cupin_like; Conserved domain found in cupin and related proteins
    2. XM_030251372.2XP_030107232.1  histone lysine demethylase PHF8 isoform X1

      UniProtKB/Swiss-Prot
      Q8CG26
      Conserved Domains (4) summary
      smart00558
      Location:199262
      JmjC; A domain family that is part of the cupin metalloenzyme superfamily
      cd15642
      Location:657
      PHD_PHF8; PHD finger found in histone lysine demethylase PHF8
      pfam17811
      Location:338441
      JHD; Jumonji helical domain
      cl21464
      Location:234334
      cupin_like; Conserved domain found in cupin and related proteins
    3. XM_006528879.5XP_006528942.1  histone lysine demethylase PHF8 isoform X2

      See identical proteins and their annotated locations for XP_006528942.1

      Conserved Domains (4) summary
      smart00558
      Location:199262
      JmjC; A domain family that is part of the cupin metalloenzyme superfamily
      cd15642
      Location:657
      PHD_PHF8; PHD finger found in histone lysine demethylase PHF8
      pfam17811
      Location:338441
      JHD; Jumonji helical domain
      cl21464
      Location:234334
      cupin_like; Conserved domain found in cupin and related proteins
    4. XM_006528878.5XP_006528941.1  histone lysine demethylase PHF8 isoform X2

      See identical proteins and their annotated locations for XP_006528941.1

      Conserved Domains (4) summary
      smart00558
      Location:199262
      JmjC; A domain family that is part of the cupin metalloenzyme superfamily
      cd15642
      Location:657
      PHD_PHF8; PHD finger found in histone lysine demethylase PHF8
      pfam17811
      Location:338441
      JHD; Jumonji helical domain
      cl21464
      Location:234334
      cupin_like; Conserved domain found in cupin and related proteins
    5. XM_006528875.5XP_006528938.1  histone lysine demethylase PHF8 isoform X1

      See identical proteins and their annotated locations for XP_006528938.1

      UniProtKB/Swiss-Prot
      Q80TJ7, Q8CG26
      Related
      ENSMUSP00000040765.7, ENSMUST00000046950.13
      Conserved Domains (4) summary
      smart00558
      Location:199262
      JmjC; A domain family that is part of the cupin metalloenzyme superfamily
      cd15642
      Location:657
      PHD_PHF8; PHD finger found in histone lysine demethylase PHF8
      pfam17811
      Location:338441
      JHD; Jumonji helical domain
      cl21464
      Location:234334
      cupin_like; Conserved domain found in cupin and related proteins
    6. XM_006528877.5XP_006528940.1  histone lysine demethylase PHF8 isoform X1

      See identical proteins and their annotated locations for XP_006528940.1

      UniProtKB/Swiss-Prot
      Q80TJ7, Q8CG26
      Conserved Domains (4) summary
      smart00558
      Location:199262
      JmjC; A domain family that is part of the cupin metalloenzyme superfamily
      cd15642
      Location:657
      PHD_PHF8; PHD finger found in histone lysine demethylase PHF8
      pfam17811
      Location:338441
      JHD; Jumonji helical domain
      cl21464
      Location:234334
      cupin_like; Conserved domain found in cupin and related proteins
    7. XM_006528880.5XP_006528943.1  histone lysine demethylase PHF8 isoform X1

      See identical proteins and their annotated locations for XP_006528943.1

      UniProtKB/Swiss-Prot
      Q80TJ7, Q8CG26
      Conserved Domains (4) summary
      smart00558
      Location:199262
      JmjC; A domain family that is part of the cupin metalloenzyme superfamily
      cd15642
      Location:657
      PHD_PHF8; PHD finger found in histone lysine demethylase PHF8
      pfam17811
      Location:338441
      JHD; Jumonji helical domain
      cl21464
      Location:234334
      cupin_like; Conserved domain found in cupin and related proteins