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Mtmr1 Gene Detail
Summary
  • Symbol
    Mtmr1
  • Name
    myotubularin related protein 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858271
    NCBI Gene: 53332
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:70408366-70462802 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 36.75 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    982 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1858271
 protein coding gene ChrX:70408332-70462802 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035782
 protein coding gene ChrX:67011234-67068975 (+)
A/J MGP_AJ_G0035765
 protein coding gene ChrX:67242109-67300660 (+)
AKR/J MGP_AKRJ_G0035687
 protein coding gene ChrX:69047595-69101736 (+)
BALB/cJ MGP_BALBcJ_G0035752
 protein coding gene ChrX:66332296-66386858 (+)
C3H/HeJ MGP_C3HHeJ_G0035455
 protein coding gene ChrX:67528077-67587402 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036282
 protein coding gene ChrX:69055170-69109409 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033130
 protein coding gene ChrX:66500588-66560554 (+)
CAST/EiJ MGP_CASTEiJ_G0034747
 protein coding gene ChrX:52914100-52975497 (+)
CBA/J MGP_CBAJ_G0035430
 protein coding gene ChrX:70982574-71037191 (+)
DBA/2J MGP_DBA2J_G0035583
 protein coding gene ChrX:66755611-66809973 (+)
FVB/NJ MGP_FVBNJ_G0035534
 protein coding gene ChrX:66120446-66176946 (+)
LP/J MGP_LPJ_G0035672
 protein coding gene ChrX:67853569-67910982 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035569
 protein coding gene ChrX:73506725-73562484 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036303
 protein coding gene ChrX:66871412-66929315 (+)
PWK/PhJ MGP_PWKPhJ_G0034447
 protein coding gene ChrX:50961434-51017470 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034283
 protein coding gene ChrX:53810588-53874400 (+)
WSB/EiJ MGP_WSBEiJ_G0034889
 protein coding gene ChrX:66204469-66260320 (+)



Homology
more
  • Human Ortholog
    MTMR1, myotubularin related protein 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MTMR1, myotubularin related protein 1
  • Links
    NCBI Gene ID: 8776
    neXtProt AC: NX_Q13613
    UniProt: Q13613

  • Chr Location
    Xq28; chrX:150692962-150765108 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 2 alleles in 2 genetic backgrounds
    9 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.
Female mice homozygous and male mice hemizygous for a gene disruption display normal morphology, clinical chemistry, hematology, and behavior.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    16
  • GO References
    4
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
    925
  • Tissues
    182
  • cDNA Data
    70
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000015214 Ensembl Gene Model | MGI Sequence Detail 54437 C57BL/6J ±  kb
    transcript ENSMUST00000114601 Ensembl | MGI Sequence Detail 4640 Not Applicable  
    polypeptide ENSMUSP00000110248 Ensembl | MGI Sequence Detail 671 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 75
      cDNA 70
      Primer pair 5

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2147990
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 7
      Gene Ontology 4
      Phenotypes 9
    • Earliest
      J:62647 Laporte J, et al., Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998 Oct;7(11):1703-12
    • 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)
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    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