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Pomt1 Gene Detail
Summary
  • Symbol
    Pomt1
  • Name
    protein-O-mannosyltransferase 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2138994
    NCBI Gene: 99011
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:32126652-32145017 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 22.09 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    86 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2138994
 protein coding gene Chr2:32126602-32145017 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025598
 protein coding gene Chr2:30671260-30690625 (+)
A/J MGP_AJ_G0025576
 protein coding gene Chr2:29377626-29396085 (+)
AKR/J MGP_AKRJ_G0025545
 protein coding gene Chr2:30393820-30415053 (+)
BALB/cJ MGP_BALBcJ_G0025572
 protein coding gene Chr2:29501489-29520345 (+)
C3H/HeJ MGP_C3HHeJ_G0025333
 protein coding gene Chr2:30315522-30335119 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026017
 protein coding gene Chr2:31607820-31627872 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023425
 protein coding gene Chr2:28112733-28131192 (+)
CAST/EiJ MGP_CASTEiJ_G0024795
 protein coding gene Chr2:30249889-30269039 (+)
CBA/J MGP_CBAJ_G0025310
 protein coding gene Chr2:32795742-32815364 (+)
DBA/2J MGP_DBA2J_G0025443
 protein coding gene Chr2:29145211-29164143 (+)
FVB/NJ MGP_FVBNJ_G0025406
 protein coding gene Chr2:29017590-29035823 (+)
LP/J MGP_LPJ_G0025529
 protein coding gene Chr2:30545979-30564388 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025436
 protein coding gene Chr2:32461468-32480970 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026075
 protein coding gene Chr2:30303456-30322958 (+)
PWK/PhJ MGP_PWKPhJ_G0024542
 protein coding gene Chr2:29047261-29065439 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024342
 protein coding gene Chr2:30457800-30475927 (+)
WSB/EiJ MGP_WSBEiJ_G0024863
 protein coding gene Chr2:30477360-30496466 (+)



Homology
more
  • Human Ortholog
    POMT1, protein O-mannosyltransferase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    POMT1, protein O-mannosyltransferase 1
  • Synonyms
    LGMD2K, LGMDR11, MDDGA1, MDDGB1, MDDGC1, RT
  • Links
    NCBI Gene ID: 10585
    neXtProt AC: NX_Q9Y6A1
    UniProt: Q9Y6A1

  • Chr Location
    9q34.13; chr9:131502789-131523806 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Pomt1 mouse models; 8 with human POMT1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    20 phenotypes from 3 alleles in 3 genetic backgrounds
    12 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.
Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    6
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
non-membrane-bounded 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
    945
  • Tissues
    168
  • cDNA Data
    58
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 99011 NCBI Gene Model | MGI Sequence Detail 18366 C57BL/6J ±  kb
    transcript NM_001424659 RefSeq | MGI Sequence Detail 3329 C57BL/6  
    polypeptide Q8R2R1 UniProt | EBI | MGI Sequence Detail 746 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 61
      cDNA 58
      Primer pair 3

      Microarray probesets 3
    References
    more
    • Summaries
      All 41
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 6
      Phenotypes 12
    • Earliest
      J:82929 Henion TR, et al., Expression of dystroglycan, fukutin and POMGnT1 during mouse cerebellar development. Brain Res Mol Brain Res. 2003 Apr 10;112(1-2):177-81
    • Latest
      J:310102 Uribe ML, et al., Retinal Proteomics of a Mouse Model of Dystroglycanopathies Reveals Molecular Alterations in Photoreceptors. J Proteome Res. 2021 Jun 4;20(6):3268-3277
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory