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

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

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_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

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General gene information

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Markers

Pfpl (e-PCR), detects polymorphism
- UniSTS:166284

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

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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.