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

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. 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

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_000073.7 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
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

What's a GeneRIF?

Study identified LAPF (lysosome-associated and apoptosis-inducing protein containing PH and FYVE domains) as a Cav1-interacting protein by mass spectrometry and find that LAPF is critically involved in inducing innate immune responses and in enhancing bacterial endocytosis and the bactericide capacity of macrophages by inducing Src-LAPF-Caveolin complex formation.
Title: An endosomal LAPF is required for macrophage endocytosis and elimination of bacteria.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

General gene information

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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)

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

37920078..37927418 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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