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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
  • Alliance
    gene page
  • Transcription Start Sites
    13 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:103255101-103303513 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 67.09 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1322 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2443207
 protein coding gene Chr11:103255101-103303531 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019263
 protein coding gene Chr11:106431135-106486492 (-)
A/J MGP_AJ_G0019231
 protein coding gene Chr11:101917112-101966741 (-)
AKR/J MGP_AKRJ_G0019200
 protein coding gene Chr11:105057045-105105393 (-)
BALB/cJ MGP_BALBcJ_G0019205
 protein coding gene Chr11:102382134-102430506 (-)
C3H/HeJ MGP_C3HHeJ_G0019014
 protein coding gene Chr11:105281239-105330300 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019654
 protein coding gene Chr11:109735670-109784168 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017280
 protein coding gene Chr11:99324114-99373548 (-)
CAST/EiJ MGP_CASTEiJ_G0018568
 protein coding gene Chr11:106302180-106351093 (-)
CBA/J MGP_CBAJ_G0018983
 protein coding gene Chr11:114302011-114350838 (-)
DBA/2J MGP_DBA2J_G0019095
 protein coding gene Chr11:101422638-101471296 (-)
FVB/NJ MGP_FVBNJ_G0019085
 protein coding gene Chr11:100968213-101016707 (-)
LP/J MGP_LPJ_G0019164
 protein coding gene Chr11:106943363-106992234 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019116
 protein coding gene Chr11:113675956-113724271 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019692
 protein coding gene Chr11:105442145-105490351 (-)
PWK/PhJ MGP_PWKPhJ_G0018331
 protein coding gene Chr11:102499560-102548702 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018123
 protein coding gene Chr11:105200814-105249746 (-)
WSB/EiJ MGP_WSBEiJ_G0018617
 protein coding gene Chr11:105445906-105494261 (-)



Homology
more
  • Human Ortholog
    PLEKHM1, pleckstrin homology and RUN domain containing M1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PLEKHM1, pleckstrin homology and RUN domain containing M1
  • Synonyms
    AP162, B2, OPTA3, OPTB6
  • Links
    NCBI Gene ID: 9842
    neXtProt AC: NX_Q9Y4G2
    UniProt: Q9Y4G2

  • Chr Location
    17q21.31; chr17:45434209-45490758 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Plekhm1 mouse models; 2 with human PLEKHM1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 4 alleles in 4 genetic backgrounds
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit increased trabecular bone mass and decreased bone resorption capacity of osteoclasts caused by defects in the peripheral positioning and secretion of lysosomes. Mice homozygous for a gene trap insertion do not exhibit any detectable phenotype.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    7
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    714
  • Tissues
    8
  • cDNA Data
    10
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034247 Ensembl Gene Model | MGI Sequence Detail 48413 C57BL/6J ±  kb
    transcript ENSMUST00000041272 Ensembl | MGI Sequence Detail 5968 Not Applicable  
    polypeptide ENSMUSP00000047327 Ensembl | MGI Sequence Detail 1074 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 10
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 7
      Phenotypes 23
    • Earliest
      J:56548 Zheng B, et al., Engineering a mouse balancer chromosome. Nat Genet. 1999 Aug;22(4):375-8
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory