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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 11-Apr-2024

Summary

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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. Acts upstream of or within positive regulation of intrinsic apoptotic signaling pathway. Located in lysosome. Orthologous to human PLEKHF1 (pleckstrin homology and FYVE domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in ovary adult (RPKM 30.2), duodenum adult (RPKM 19.3) and 19 other tissues See more
Orthologs
human all
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Genomic context

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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

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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. An endosomal LAPF is required for macrophage endocytosis and elimination of bacteria. Li T, et al. Proc Natl Acad Sci U S A, 2019 Jun 25. PMID 31189603, Free PMC Article
  2. A global genomic transcriptional code associated with CNS-expressed genes. Bailey PJ, et al. Exp Cell Res, 2006 Oct 1. PMID 16919269
  3. EUCOMM--the European conditional mouse mutagenesis program. Friedel RH, et al. Brief Funct Genomic Proteomic, 2007 Sep. PMID 17967808
  4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
  5. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

See all (17) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

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

General gene information

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Markers

Homology

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 ISO
Inferred from Sequence Orthology
more info
  
enables phosphatidylinositol-4-phosphate binding ISO
Inferred from Sequence Orthology
more info
  
enables phosphatidylinositol-5-phosphate binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within 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 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 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
  
acts_upstream_of_or_within positive regulation of intrinsic apoptotic signaling pathway IDA
Inferred from Direct Assay
more info
  
involved_in protein localization to plasma membrane ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within regulation of mitochondrial membrane permeability ISO
Inferred from Sequence Orthology
more info
  
involved_in vesicle organization ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in early endosome IBA
Inferred from Biological aspect of Ancestor
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 IDA
Inferred from Direct Assay
more info
  
located_in lysosome ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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

    See identical proteins and their annotated locations for NP_077724.2

    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:7 → 129
    PH_Phafin2-like; Phafin2 (also called EAPF, FLJ13187, ZFYVE18 or PLEKHF2) Pleckstrin Homology (PH) domain
    cd15754
    Location:148 → 211
    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_036153455.1 → XP_036009348.1  pleckstrin homology domain-containing family F member 1 isoform X1

    UniProtKB/Swiss-Prot
    Q3TB82, Q99M16
    Conserved Domains (2) summary
    cd01218
    Location:7 → 129
    PH_Phafin2-like; Phafin2 (also called EAPF, FLJ13187, ZFYVE18 or PLEKHF2) Pleckstrin Homology (PH) domain
    cd15754
    Location:148 → 211
    FYVE_PKHF1; FYVE domain found in protein containing both PH and FYVE domains 1 (phafin-1) and similar proteins
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3TB82.1 GenPept UniProtKB/Swiss-Prot:Q3TB82

Gene LinkOut

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