U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 353047, updated on 12-May-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Plekhm1 in Genome Data Viewer
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_000077.7Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 14 Neighboring gene predicted gene, 34823 Neighboring gene STARR-positive B cell enhancer ABC_E10718 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:103128947-103129269 Neighboring gene STARR-seq mESC enhancer starr_30841 Neighboring gene STARR-seq mESC enhancer starr_30842 Neighboring gene STARR-positive B cell enhancer ABC_E3026 Neighboring gene Rho GTPase activating protein 27 Neighboring gene Rho GTPase activating protein 27, opposite strand 3 Neighboring gene STARR-positive B cell enhancer ABC_E8459 Neighboring gene STARR-seq mESC enhancer starr_30848 Neighboring gene STARR-positive B cell enhancer ABC_E9376 Neighboring gene STARR-positive B cell enhancer ABC_E3027 Neighboring gene predicted gene, 39397 Neighboring gene STARR-seq mESC enhancer starr_30849 Neighboring gene STARR-seq mESC enhancer starr_30850 Neighboring gene leucine rich repeat containing 37A Neighboring gene STARR-seq mESC enhancer starr_30851

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

Bibliography

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Gene trapped (1) 
  • Targeted (5)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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

NCBI Reference Sequences (RefSeq)

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)

  1. NM_183034.2NP_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:703795
    PH; Pleckstrin homology domain
    cd13321
    Location:529646
    PH_PLEKHM1; Pleckstrin homology domain-containing family M member 1 Pleckstrin homology (PH) domain
    pfam02759
    Location:48181
    RUN; RUN domain
    pfam13901
    Location:8641066
    zf-RING_9; Putative zinc-RING and/or ribbon

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_000077.7 Reference GRCm39 C57BL/6J

    Range
    103255101..103303531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)