About   Help   FAQ
Pomgnt1
Gene Detail
Symbol

Name
ID
Pomgnt1
protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase
MGI:1915523
Synonyms
0610016I07Rik, 4930467B06Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 4
53.10 cM, cytoband C7
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr4:116123840-116159849 bp, + strand
From VEGA annotation of GRCm38

  36010 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9806  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Pomgnt1

Human
homologs
Human Homolog POMGNT1, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
NCBI Gene ID 55624
neXtProt AC  NX_Q8WZA1
Human Synonyms  gnT-I.2, GnT I.2, GNTI.2, LGMD2O, MEB, MGAT1.2
Human Chr (Location)  1p34.1; chr1:46188681-46220305 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human POMGNT1
Mutations,
alleles, and
phenotypes
All mutations/alleles(50) : Gene trapped(45) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Pomgnt1 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Pomgnt1 interacts with 97 markers (Mir1b, Mir19a, Mir19b-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (3 records)
Data Summary: Results (146)    Tissues (102)    Images (29)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 141
RT-PCR 5
cDNA source data(99)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(100) cDNA(99) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000009309 (Evidence)
Ensembl Gene ModelENSMUSG00000028700 (Evidence)
Entrez Gene68273 (Evidence)
UniGene196045
DFCITC1595648, TC1575479
DoTSDT.101373611, DT.101373612, DT.491685
NIA Mouse Gene IndexU004684
EC2.4.1.-
Consensus CDS ProjectCCDS18506.1, CCDS18507.1, CCDS71450.1
International Mouse Knockout Project StatusPomgnt1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000009309 VEGA Gene Model | MGI Sequence Detail 36010 C57BL/6J ±  kb
transcript OTTMUST00000071171 VEGA | MGI Sequence Detail 2953 Not Applicable 
polypeptide OTTMUSP00000036414 VEGA | MGI Sequence Detail 660 Not Applicable 

For the selected sequences
All sequences(79) RefSeq(9) UniProt(1)
Polymorphisms
SNPs within 2kb(123 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004139 Glycosyl transferase, family 13
Protein Ontology PR:000013016 protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1
References
(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:196379 Zhang P, et al., Biochemical and biophysical changes underlie the mechanisms of basement membrane disruptions in a mouse model of dystroglycanopathy. Matrix Biol. 2013 Apr 24;32(3-4):196-207
All references(48)
Disease annotation references (4)
Other
accession IDs
MGI:1924138

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/18/2014
MGI 5.20
The Jackson Laboratory