Plekhm1 pleckstrin homology domain containing, family M (with RUN domain) member 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Plekhm1provided by MGI
Official Full Name: pleckstrin homology domain containing, family M (with RUN domain) member 1provided by MGI
Primary source: MGI:MGI:2443207
See related: Ensembl:ENSMUSG00000034247 AllianceGenome:MGI:2443207
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: B2; AP162; D330036J23Rik
Summary: Predicted to enable metal ion binding activity. Involved in lysosome localization; positive regulation of bone resorption; and positive regulation of ruffle assembly. Predicted to be located in autolysosome and nucleolus. Used to study autosomal recessive osteopetrosis 6. Human ortholog(s) of this gene implicated in autosomal recessive osteopetrosis 6 and osteopetrosis. Orthologous to human PLEKHM1 (pleckstrin homology and RUN domain containing M1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in thymus adult (RPKM 17.4), mammary gland adult (RPKM 16.6) and 28 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 11 E1; 11 67.09 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (103255101..103303531, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (103364275..103412705, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TRAFD1, in association with Plekhm1/Rab7-positive late endosomes-early lysosomes, has a previously unknown role in vesicle trafficking, acidification, and resorption in osteoclasts
Title: TRAFD1 (FLN29) Interacts with Plekhm1 and Regulates Osteoclast Acidification and Resorption.
identified PLEKHM1 as an endolysosomal adaptor platform that acts as a central hub to integrate endocytic and autophagic pathways at the lysosome
Title: PLEKHM1: Adapting to life at the lysosome.
results indicate that LIS1 is a previously unrecognized regulator of osteoclast formation, microtubule organization, and lysosomal secretion by virtue of its ability to modulate dynein function and Plekhm1
Title: LIS1 regulates osteoclast formation and function through its interactions with dynein/dynactin and Plekhm1.

Submit: New GeneRIF Correction

Variation

Go to the top of the page Help

Alleles

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

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (5) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D11Mit360 (e-PCR), detects polymorphism
- UniSTS:126576

NoName (e-PCR)
- UniSTS:236754

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagosome-lysosome fusion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within autophagy	IEA Inferred from Electronic Annotation more info
involved_in late endosome to lysosome transport	ISO Inferred from Sequence Orthology more info
involved_in lysosome localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome localization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone resorption	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ruffle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in autolysosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in lysosome	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: pleckstrin homology domain-containing family M member 1

Names: PH domain-containing family M member 1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_183034.2 → NP_898855.1 pleckstrin homology domain-containing family M member 1

See identical proteins and their annotated locations for NP_898855.1

Status: VALIDATED

Source sequence(s)

AK048562, AL772325, BC053079, BP767414, BY203268

Consensus CDS

CCDS25518.1

UniProtKB/Swiss-Prot

Q3U3L2, Q7TSI1, Q8CHU5

Related

ENSMUSP00000047327.9, ENSMUST00000041272.10

Conserved Domains (4) summary

smart00233
Location:703 → 795

PH; Pleckstrin homology domain

cd13321
Location:529 → 646

PH_PLEKHM1; Pleckstrin homology domain-containing family M member 1 Pleckstrin homology (PH) domain

pfam02759
Location:48 → 181

RUN; RUN domain

pfam13901
Location:864 → 1066

zf-RING_9; Putative zinc-RING and/or ribbon