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Pomgnt1 Gene Detail
Summary
  • Symbol
    Pomgnt1
  • Name
    protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
  • Synonyms
    0610016I07Rik, 4930467B06Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915523
    NCBI Gene: 68273
  • Gene Overview
    MyGene.info: POMGNT1
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:116150498-116159844 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 53.10 cM, cytoband C7
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    38 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915523
protein coding gene Chr4:116123840-116159849 (.)
129S1/SvImJ MGP_129S1SvImJ_G0028619
protein coding gene Chr4:116974979-117013321 (+)
A/J MGP_AJ_G0028580
protein coding gene Chr4:112516972-112554520 (+)
AKR/J MGP_AKRJ_G0028530
protein coding gene Chr4:114930935-114971879 (+)
BALB/cJ MGP_BALBcJ_G0028601
protein coding gene Chr4:113149260-113185353 (+)
C3H/HeJ MGP_C3HHeJ_G0028315
protein coding gene Chr4:116508397-116545562 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029042
protein coding gene Chr4:121525371-121563115 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026326
protein coding gene Chr4:106559718-106602684 (+)
CAST/EiJ MGP_CASTEiJ_G0027749
protein coding gene Chr4:113734514-113773532 (+)
CBA/J MGP_CBAJ_G0028282
protein coding gene Chr4:124826197-124863067 (+)
DBA/2J MGP_DBA2J_G0028430
protein coding gene Chr4:113160622-113196749 (+)
FVB/NJ MGP_FVBNJ_G0028398
protein coding gene Chr4:111658305-111695751 (+)
LP/J MGP_LPJ_G0028532
protein coding gene Chr4:117191486-117234212 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028425
protein coding gene Chr4:129824810-129861340 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029079
protein coding gene Chr4:116090663-116129736 (+)
PWK/PhJ MGP_PWKPhJ_G0027475
protein coding gene Chr4:109929109-109966522 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027298
protein coding gene Chr4:112342147-112377394 (+)
WSB/EiJ MGP_WSBEiJ_G0027828
protein coding gene Chr4:115963324-116002154 (+)



Homology
more
  • Human Ortholog
    POMGNT1, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
  • Vertebrate Orthologs
    8
  • Human Ortholog
    POMGNT1, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    gnT-I.2, GnT I.2, GNTI.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76
  • Links
    NCBI Gene ID: 55624
    neXtProt AC: NX_Q8WZA1
    UniProt: Q8WZA1

  • Chr Location
    1p34.1; chr1:46188681-46220305 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Pomgnt1 mouse models; 3 with human POMGNT1 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    42 phenotypes from 4 alleles in 4 genetic backgrounds
    28 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.
Surviving homozygous null mice display a mild dystrophy despite a reduced muscle mass and myofiber number, impaired muscle regeneration and low proliferative activity of satellite cells. Mice homozygous for a gene trap allele show reduced fertility and multiple defects in muscle, eye and brain.
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 population 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
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 68273 NCBI Gene Model | MGI Sequence Detail 9347 C57BL/6J ±  kb
    transcript NM_026651 RefSeq | MGI Sequence Detail 2736 C57BL/6  
    polypeptide Q91X88 UniProt | EBI | MGI Sequence Detail 660 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000013016 protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
    • EC
    • InterPro Domains
      IPR004139 Glycosyl transferase, family 13
      IPR039477 ILEI/PANDER domain
      IPR029044 Nucleotide-diphospho-sugar transferases
      IPR039474 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, PANDER-like domain
    Molecular
    Reagents
    less
    • All nucleic 102
      cDNA 100
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1924138
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 5
      Diseases 3
      Gene Ontology 7
      Phenotypes 28
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:258757 Booler HS, et al., Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy. Brain Pathol. 2016 Jul;26(4):465-78

    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
    12/04/2018
    MGI 6.13
    The Jackson Laboratory