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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
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: HomoloGene, HGNC
  • Synonyms
    LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
  • Links
    NCBI Gene ID: 10585
    neXtProt AC: NX_Q9Y6A1

  • Chr Location
    9q34.1; chr9:131502895-131523806 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human POMT1 associations
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
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.
  • All Mutations and Alleles
    20
  • Gene trapped
    14
  • Targeted
    6
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
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  • All nucleic 56
    cDNA 55
    Primer pair 1

    Microarray probesets 3
References
more
  • Summaries
    All 37
    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
Citing These Resources
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory