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Pomt1 Gene Detail
 Symbol
Name
ID
Pomt1
protein-O-mannosyltransferase 1
MGI:2138994


Nomenclature History
Genetic Map
Chromosome 2
Syntenic
 
Mapping data( 1)
Sequence Map
Chr2:32092110-32110525 bp, + strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Protein SuperFamily: dolichyl-phosphate-mannose-protein mannosyltransferase
TreeFam: TF300552
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000012947 VEGA Gene Model | MGI Sequence Detail 18416 C57BL/6J ± Kb
transcript NM_145145 RefSeq | MGI Sequence Detail 2838 FVB/N
polypeptide Q8R2R1 UniProt | EBI | MGI Sequence Detail 746 Not Applicable
For the selected sequences
All sequences(26)
Alleles
and
phenotypes
All alleles(11) : Targeted, knock-out(1) Gene trapped(10)
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.
Polymorphisms SNPs within 2kb(85 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications: (14 annotations)
Process extracellular matrix organization, protein amino acid O-linked glycosylation...
Component acrosomal vesicle, endoplasmic reticulum...
Function dolichyl-phosphate-mannose-protein mannosyltransferase activity, magnesium ion binding...
External Resources: FuncBase
Expression Literature Summary: (4 records)
Data Summary: Assays (1)    Results (5)    Tissues (5)
Theiler Stages: 28
  Assay Type Assays   Results
      RT-PCR 1   5
cDNA source data(53)
External Resources: Allen Brain Atlas  GENSAT  GEO  ArrayExpress 
Molecular
reagents
All nucleic(54) cDNA(53) Primer pair(1)
Microarray probesets(2)
Other database
links
EC 2.4.1.109
Ensembl Gene Model ENSMUSG00000039254
DoTS DT.101197605, DT.529606, DT.91362716, DT.94238361
Consensus CDS Project CCDS15908.1
UniGene 31192
DFCI TC1577522, TC1593952, TC1665785
NIA Mouse Gene Index U001613
Entrez Gene 99011
VEGA Gene Model OTTMUSG00000012947
International Mouse Knockout Project Status Pomt1
Protein
domains
InterPro ID Description
IPR003342 Glycosyl transferase, family 39
IPR003608 MIR
IPR016093 MIR motif
Graphical View of Protein Domain Structure
References
(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:137930 Lommel M et al., "POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo." Glycobiology 2008 Aug;18(8):615-25
All references(8)

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
02/06/2010
MGI_4.32
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The Jackson Laboratory