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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
  • Gene Overview
    MyGene.info: POMT1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr2:32236590-32255005 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18416 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 22.09 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    POMT1, protein O-mannosyltransferase 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    POMT1, protein O-mannosyltransferase 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
  • Links
    NCBI Gene ID: 10585
    neXtProt AC: NX_Q9Y6A1
    UniProt: Q9Y6A1

  • Chr Location
    9q34.13; chr9:131502895-131523806 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with human POMT1 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    8 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.
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
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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
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
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000012947 VEGA Gene Model | MGI Sequence Detail 18416 C57BL/6J ±  kb
    transcript OTTMUST00000031122 VEGA | MGI Sequence Detail 2918 Not Applicable  
    polypeptide OTTMUSP00000013931 VEGA | MGI Sequence Detail 746 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      87 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 57
      cDNA 56
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 38
      Developmental Gene Expression 7
      Gene Ontology 7
      Phenotypes 8
    • 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:215959 Yagi H, et al., AGO61-dependent GlcNAc modification primes the formation of functional glycans on alpha-dystroglycan. Sci Rep. 2013;3:3288

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    09/11/2018
    MGI 6.12
    The Jackson Laboratory