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Pomt1
Gene Detail
 Symbol
Name
ID
Pomt1
protein-O-mannosyltransferase 1
MGI:2138994
Feature Type protein coding gene
Genetic Map
Chromosome 2
22.09 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr2:32236590-32255005 bp, + strand
From VEGA annotation of GRCm38

  18416 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology 		HomoloGene:68548  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: dolichyl-phosphate-mannose-protein mannosyltransferase
Gene Tree: Pomt1
Human
homologs
Human Homolog POMT1, protein-O-mannosyltransferase 1
NCBI Gene ID 10585
neXtProt AC  NX_Q9Y6A1
Human Synonyms  LGMD2K, MDDGA1, MDDGB1, MDDGC1, RT
Human Chr (Location)  9q34.1; chr9:134378289-134399193 (+)  GRCh37.p10
Disease Associations  (3) Diseases Associated with Human POMT1
Alleles
and
phenotypes 		All alleles(18) : Targeted(4) Gene trapped(14)
 
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.
 
Gene Ontology
(GO)
classifications 		All GO classifications: (14 annotations)
Process extracellular matrix organization, protein O-linked glycosylation
Component acrosomal vesicle, endoplasmic reticulum, ...
Function dolichyl-phosphate-mannose-protein mannosyltransferase activity, mannosyltransferase activity, ...
External Resources: FuncBase
Expression Literature Summary: (5 records)
Data Summary: Results (99)    Tissues (99)   
Theiler Stages: 22, 28
Assay TypeResults
RNA in situ 94
RT-PCR 5
cDNA source data(55)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents 		All nucleic(56) cDNA(55) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000012947 (Evidence)
Ensembl Gene ModelENSMUSG00000039254 (Evidence)
Entrez Gene99011 (Evidence)
UniGene31192
DFCITC1577522, TC1593952, TC1665785
DoTSDT.101197605, DT.529606, DT.91362716, DT.94238361
NIA Mouse Gene IndexU001613
EC2.4.1.109
Consensus CDS ProjectCCDS15908.1
International Mouse Knockout Project StatusPomt1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012947 VEGA Gene Model | MGI Sequence Detail 18416 C57BL/6J ±  kb
transcript OTTMUST00000031122 VEGA | MGI Sequence Detail 2918 Not Applicable 
polypeptide OTTMUSP00000013931 VEGA | MGI Sequence Detail 746 Not Applicable 

For the selected sequences
All sequences(59) RefSeq(2) UniProt(5)
Polymorphisms SNPs(77 from dbSNP Build 128)
Protein-related
information
ResourceIDDescription
InterPro IPR027005 Glycosyltransferase 39 like
InterPro IPR003342 Glycosyl transferase, family 39
InterPro IPR016093 MIR motif
Protein Ontology PR:000013018 protein O-mannosyl-transferase 1
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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
All references(39)
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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Send questions and comments to User Support. 		last database update
05/08/2013
MGI 5.13 		The Jackson Laboratory