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Plekhm1 Gene Detail
Summary
  • Symbol
    Plekhm1
  • Name
    pleckstrin homology domain containing, family M (with RUN domain) member 1
  • Synonyms
    AP162, B2, D330036J23Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443207
    NCBI Gene: 353047
Location & Maps
more
  • Sequence Map
    Chr11:103364275-103412687 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      48413 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PLEKHM1, pleckstrin homology and RUN domain containing M1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PLEKHM1, pleckstrin homology and RUN domain containing M1
    Orthology source: HomoloGene
  • Synonyms
    AP162, B2, OPTB6
  • Links
    NCBI Gene ID: 9842
    neXtProt AC: NX_Q9Y4G2

  • Chr Location
    17q21.31; chr17:45434247-45490780 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human PLEKHM1 associations

Human Disease Mouse Models
       Osteopetrosis, Autosomal Recessive 6; OPTB6   OMIM: 611497
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    15 phenotype references
  • All Mutations and Alleles
    237
  • Gene trapped
    231
  • Targeted
    6
  • Genomic Mutations
    1 involving Plekhm1
  • Incidental Mutations
Mice homozygous for a gene trap insertion do not exhibit a detectable mutant phenotype.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • cDNA Data
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000002841 VEGA Gene Model | MGI Sequence Detail 48413 C57BL/6J ±  kb
transcript OTTMUST00000005762 VEGA | MGI Sequence Detail 5968 Not Applicable  
polypeptide OTTMUSP00000002735 VEGA | MGI Sequence Detail 1074 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    304 from dbSNP Build 137
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000012864 pleckstrin homology domain-containing family M member 1
  • InterPro Domains
    IPR011993 PH domain-like
    IPR001849 Pleckstrin homology domain
    IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
    IPR025258 Putative zinc-RING and/or ribbon
    IPR004012 RUN domain
Molecular
Reagents
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  • All nucleic 9
    cDNA 9

    Microarray probesets 5
References
more
  • Summaries
    All 33
    Gene Ontology 3
    Phenotypes 15
  • Earliest
    J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
  • Latest
    J:180994 Ye S, et al., LIS1 regulates osteoclast formation and function through its interactions with dynein/dynactin and Plekhm1. PLoS One. 2011;6(11):e27285

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
01/26/2016
MGI 6.02
The Jackson Laboratory