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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
  • Gene Overview
    MyGene.info: PLEKHM1
  • Alliance
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:103365092-103412664 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 67.09 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    301 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 Chr11:103364275-103412687 (-)
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
    9
  • Human Ortholog
    PLEKHM1, pleckstrin homology and RUN domain containing M1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AP162, B2, OPTA3, OPTB6
  • Links
    NCBI Gene ID: 9842
    neXtProt AC: NX_Q9Y4G2
    UniProt: Q9Y4G2

  • Chr Location
    17q21.31; chr17:45434262-45490780 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Plekhm1 mouse models; 1 with human PLEKHM1 associations

Human Disease Mouse Models
      
IDs
View 2 models
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
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  • Phenotype Summary
    19 phenotypes from 4 alleles in 4 genetic backgrounds
    19 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 353047 NCBI Gene Model | MGI Sequence Detail 47573 C57BL/6J ±  kb
transcript NM_183034 RefSeq | MGI Sequence Detail 6003 C57BL/6  
polypeptide Q7TSI1 UniProt | EBI | MGI Sequence Detail 1074 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 10
    cDNA 10

    Microarray probesets 5
References
more
  • Summaries
    All 42
    Diseases 1
    Gene Ontology 5
    Phenotypes 19
  • Earliest
    J:56548 Zheng B, et al., Engineering a mouse balancer chromosome. Nat Genet. 1999 Aug;22(4):375-8
  • Latest
    J:236599 Dickinson ME, et al., High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 14;537(7621):508-514

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/13/2018
MGI 6.13
The Jackson Laboratory