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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

HCOP human homology predictions: POMGNT1
Gene Tree: Pomgnt1

Human
homologs
POMGNT1, protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Orthology source: HGNC, HomoloGene

IDs:
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.p2

Disease Associations: (3) Diseases Associated with Human POMGNT1

Mutations,
alleles, and
phenotypes
All mutations/alleles(12) : Gene trapped(6) Targeted(6)
Genomic Mutations involving Pomgnt1 (1)
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 in Mice Using Pomgnt1 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Pomgnt1 interacts with 97 markers (Mir1b, Mir19a, Mir19b-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (4 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)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase pomgnt1 ; ZFIN pomgnt1    NEW 
Molecular
reagents
All nucleic(100) cDNA(99) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000009309 (Evidence)
Ensembl Gene Model ENSMUSG00000028700 (Evidence)
Entrez Gene 68273 (Evidence)
UniGene 196045
DFCI TC1575479, TC1595648
DoTS DT.101373612, DT.491685, DT.101373611
NIA Mouse Gene Index U004684
EC 2.4.1.-
Consensus CDS Project CCDS18506.1, CCDS18507.1, CCDS71450.1
International Mouse Phenotyping Consortium Status Pomgnt1
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(82) 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:217719 Orr SL, et al., A phenotype survey of 36 mutant mouse strains with gene-targeted defects in glycosyltransferases or glycan-binding proteins. Glycobiology. 2013 Mar;23(3):363-80
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
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last database update
07/28/2015
MGI 5.22
The Jackson Laboratory