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    Plekhf1 pleckstrin homology domain containing, family F (with FYVE domain) member 1 [ Mus musculus (house mouse) ]

    Gene ID: 72287, updated on 9-Dec-2024

    Summary

    Official Symbol
    Plekhf1provided by MGI
    Official Full Name
    pleckstrin homology domain containing, family F (with FYVE domain) member 1provided by MGI
    Primary source
    MGI:MGI:1919537
    See related
    Ensembl:ENSMUSG00000074170 AllianceGenome:MGI:1919537
    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
    APPD; LAPF; PHAFIN1; ZFYVE15; 1810013P09Rik
    Summary
    Predicted to enable phosphatidylinositol-3-phosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylinositol-5-phosphate binding activity. Predicted to be involved in several processes, including endosome to lysosome transport; positive regulation of intrinsic apoptotic signaling pathway; and protein localization to plasma membrane. Predicted to be located in nucleus and perinuclear region of cytoplasm. Predicted to be active in early endosome and lysosome. Predicted to colocalize with endosome. Orthologous to human PLEKHF1 (pleckstrin homology and FYVE domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in ovary adult (RPKM 30.2), duodenum adult (RPKM 19.3) and 19 other tissues See more
    Orthologs
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    Genomic context

    See Plekhf1 in Genome Data Viewer
    Location:
    7 B3; 7 25.36 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (37920078..37927418, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (38220654..38227994, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA D530033B14 gene Neighboring gene RIKEN cDNA 1600014C10 gene Neighboring gene predicted gene, 22203 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:38974627-38974780 Neighboring gene STARR-positive B cell enhancer ABC_E3714 Neighboring gene STARR-seq mESC enhancer starr_18689 Neighboring gene STARR-seq mESC enhancer starr_18690 Neighboring gene processing of precursor 4, ribonuclease P/MRP family, (S. cerevisiae) Neighboring gene STARR-seq mESC enhancer starr_18693 Neighboring gene predicted gene 9220

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1)  1 citation

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-3-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-4-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-4-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylinositol-5-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-5-phosphate binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in endosome organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endosome to lysosome transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of autophagy IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of autophagy ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of intrinsic apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in protein localization to plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in vesicle organization ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in early endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endosome IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with endosome ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in lysosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    pleckstrin homology domain-containing family F member 1
    Names
    PH domain-containing family F member 1
    lysosome-associated apoptosis-inducing protein containing PH and FYVE domains

    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_024413.2NP_077724.2  pleckstrin homology domain-containing family F member 1

      Status: VALIDATED

      Source sequence(s)
      AK143976, AW227287
      Consensus CDS
      CCDS21158.1
      UniProtKB/Swiss-Prot
      Q3TB82, Q99M16
      Related
      ENSMUSP00000096113.5, ENSMUST00000098513.6
      Conserved Domains (2) summary
      cd01218
      Location:7129
      PH_Phafin2-like; Phafin2 (also called EAPF, FLJ13187, ZFYVE18 or PLEKHF2) Pleckstrin Homology (PH) domain
      cd15754
      Location:148211
      FYVE_PKHF1; FYVE domain found in protein containing both PH and FYVE domains 1 (phafin-1) and similar proteins

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      37920078..37927418 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036153455.1XP_036009348.1  pleckstrin homology domain-containing family F member 1 isoform X1

      UniProtKB/Swiss-Prot
      Q3TB82, Q99M16
      Conserved Domains (2) summary
      cd01218
      Location:7129
      PH_Phafin2-like; Phafin2 (also called EAPF, FLJ13187, ZFYVE18 or PLEKHF2) Pleckstrin Homology (PH) domain
      cd15754
      Location:148211
      FYVE_PKHF1; FYVE domain found in protein containing both PH and FYVE domains 1 (phafin-1) and similar proteins