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    Pfpl pore forming protein-like [ Mus musculus (house mouse) ]

    Gene ID: 56093, updated on 27-Nov-2024

    Summary

    Official Symbol
    Pfplprovided by MGI
    Official Full Name
    pore forming protein-likeprovided by MGI
    Primary source
    MGI:MGI:1860266
    See related
    Ensembl:ENSMUSG00000040065 AllianceGenome:MGI:1860266
    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
    Epcs5; Epcs50
    Summary
    Predicted to enable wide pore channel activity. Predicted to be involved in defense response to Gram-negative bacterium and defense response to Gram-positive bacterium. Predicted to be located in cytoplasmic vesicle. Predicted to be active in phagolysosome membrane. Is expressed in several structures, including extraembryonic component; genitourinary system; liver; lung; and spleen. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human MPEG1 (macrophage expressed 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

    See Pfpl in Genome Data Viewer
    Location:
    19 A; 19 8.72 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (12405290..12409474)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (12427905..12432110)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 5 subfamily AN member 6 Neighboring gene olfactory receptor family 5 subfamily A member 3 Neighboring gene macrophage expressed gene 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr19:12551432-12551640 Neighboring gene deltex 4, E3 ubiquitin ligase Neighboring gene STARR-positive B cell enhancer ABC_E2522

    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

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables wide pore channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in defense response to Gram-negative bacterium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in defense response to Gram-positive bacterium ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to bacterium ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in phagolysosome membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    pore forming protein-like
    Names
    ectoplacental cone, invasive trophoblast giant cells, extraembryonic ectoderm and chorion sequence 50

    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_019540.3NP_062413.2  pore forming protein-like precursor

      See identical proteins and their annotated locations for NP_062413.2

      Status: VALIDATED

      Source sequence(s)
      AC129773
      Consensus CDS
      CCDS50397.1
      UniProtKB/TrEMBL
      Q5RKV8, Q9JI82
      Related
      ENSMUSP00000126346.2, ENSMUST00000168148.2
      Conserved Domains (1) summary
      pfam01823
      Location:125329
      MACPF; MAC/Perforin domain

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      12405290..12409474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)