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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
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:116007700-116017041 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 53.10 cM, cytoband C7
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    261 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 Chr4:115981037-116017046 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    POMGNT1, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
  • 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; chr1:46188683-46220305 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Pomgnt1 mouse models; 7 with human POMGNT1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    52 phenotypes from 4 alleles in 4 genetic backgrounds
    32 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.
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
less
  • All GO Annotations
    30
  • GO References
    13
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
    874
  • Tissues
    113
  • cDNA Data
    101
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 68273 NCBI Gene Model | MGI Sequence Detail 9342 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
      (term hierarchy)
    • EC
      2.4.1.-
    • InterPro Domains
      IPR004139 Glycosyl transferase, family 13
      IPR039477 ILEI/PANDER domain
      IPR029044 Nucleotide-diphospho-sugar transferases
      IPR052463 O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase
      IPR039474 Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, PANDER-like domain
    Molecular
    Reagents
    less
    • All nucleic 103
      cDNA 101
      Primer pair 2

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1924138
    References
    more
    • Summaries
      All 61
      Developmental Gene Expression 6
      Diseases 4
      Gene Ontology 13
      Phenotypes 32
    • 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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory