ENSMUSG00000028700


Mus musculus

Features
Gene ID: ENSMUSG00000028700
  
Biological name :Pomgnt1
  
Synonyms : Pomgnt1 / Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 / Q91X88
  
Possible biological names infered from orthology : protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) / Q8WZA1
  
Species: Mus musculus
  
Chr. number: 4
Strand: 1
Band: D1
Gene start: 116123840
Gene end: 116159849
  
Corresponding Affymetrix probe sets: 10507250 (MoGene1.0st)   1426618_a_at (Mouse Genome 430 2.0 Array)   1443679_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000102107
Ensembl peptide - ENSMUSP00000102103
Ensembl peptide - ENSMUSP00000102105
Ensembl peptide - ENSMUSP00000112751
Ensembl peptide - ENSMUSP00000112911
NCBI entrez gene - 68273     See in Manteia.
MGI - MGI:1915523
RefSeq - NM_001290658
RefSeq - NM_026651
RefSeq - NM_029786
RefSeq Peptide - NP_001277587
RefSeq Peptide - NP_080927
RefSeq Peptide - NP_084062
swissprot - Q91X88
Ensembl - ENSMUSG00000028700
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pomgnt1ENSDARG00000052025Danio rerio
 POMGNT1ENSGALG00000010351Gallus gallus
 Q8WZA1ENSG00000085998Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mgat1 / P27808 / Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase / P26572* / mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase*ENSMUSG0000002034621


Protein motifs (from Interpro)
Interpro ID Name
 IPR004139  Glycosyl transferase, family 13
 IPR029044  Nucleotide-diphospho-sugar transferases


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0006493 protein O-linked glycosylation ISO
 cellular_componentGO:0000139 Golgi membrane IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0008375 acetylglucosaminyltransferase activity ISO
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0047223 beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ISO


Pathways (from Reactome)
Pathway description
O-linked glycosylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000750 abnormal muscle regeneration "inability or defects in ability to repair muscle after injuries" [J:42574]
Show

Allelic Composition: Pomgnt1tm1Stk/Pomgnt1tm1Stk
Genetic Background: involves: 129S/SvEv

 MP:0000752 dystrophic muscle "progressive weakness and wasting of muscle" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67994]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

Allelic Composition: Pomgnt1tm1Stk/Pomgnt1tm1Stk
Genetic Background: involves: 129S/SvEv

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0000790 abnormal stratification in cerebral cortex "abnormal formation or pattern of the layers of the cerebral cortex " [J:64289, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0000825 dilated lateral ventricles "increase over the normal size of the horseshoe-shaped cavities of the cerebrum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:38857]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0000849 abnormal cerebellum morphology "any malformation or absence of the part of the metencephalon that lies in the posterior cranial fossa dorsal to the pons and medulla that is concerned with the coordination of movement and learning of motor skills" [J:50311, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0000857 abnormal cerebellar foliation "malformation of small offshoots of the cerebellar lobules" [Principles of Neural Science:ISBN 0-8385-8034-3, J:52951]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: Irf7tm1Ttg/Irf7tm1Ttg
Genetic Background: B6.129P2-Irf7tm1Ttg

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

Allelic Composition: Pomgnt1tm1Stk/Pomgnt1tm1Stk
Genetic Background: involves: 129S/SvEv

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Irf7tm1Ttg/Irf7tm1Ttg
Genetic Background: B6.129P2-Irf7tm1Ttg

 MP:0001330 abnormal optic nerve morphology "malformation, misprojection or atrophy in the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pomgnt1tm1Stk/Pomgnt1tm1Stk
Genetic Background: involves: 129S/SvEv

 MP:0003044 impaired basement membrane formation "defect in the organization and/or placement of the extracellular supportive tissue closely adjacent to the basal surface of the epithelium of muscle cells, fat cells and Schwann cells, which is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components" [MeSH:National Library of Medicine - Medical Subject Headings, 2003, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0003727 abnormal retinal layer morphology "malformation in any of the layers that make up the retina" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0004136 abnormal tongue muscle morphology "anomalous structure or development of the muscular portion of the tongue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0004272 abnormal basement membrane morphology "anomaly in the structure, organization and/or placement of the extracellular supportive tissue adjacent to the basal surface of the epithelia, including the epithelium of muscle cells, fat cells and Schwann cells; it is comprised of type IV collagen, laminin, and sulfated proteoglycans and other components and consists of two layers, the basal lamina and the lamina reticularis" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A10.272.220]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Irf7tm1Ttg/Irf7tm1Ttg
Genetic Background: B6.129P2-Irf7tm1Ttg

 MP:0005584 abnormal enzyme/coenzyme activity "altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pomgnt1tm1Stk/Pomgnt1tm1Stk
Genetic Background: involves: 129S/SvEv

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0006309 decreased retinal ganglion cell number "reduced number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0008511 thin retinal inner nuclear layer "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0009400 decreased skeletal muscle fiber size "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pomgnt1tm1Stk/Pomgnt1tm1Stk
Genetic Background: involves: 129S/SvEv

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0009406 decreased skeletal muscle fiber number "decreased number of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pomgnt1tm1Stk/Pomgnt1tm1Stk
Genetic Background: involves: 129S/SvEv

 MP:0009410 abnormal skeletal muscle satellite cell proliferation "anomaly in the ability of unfused cells in skeltal muscle to undergo expansion by cell division, usually triggered by injury or disease" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pomgnt1tm1Stk/Pomgnt1tm1Stk
Genetic Background: involves: 129S/SvEv

 MP:0010098 abnormal retinal blood vessel pattern "anomaly in the systematic arrangement of the blood vessels supplying the retina" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Irf7tm1Ttg/Irf7tm1Ttg
Genetic Background: B6.129P2-Irf7tm1Ttg

 MP:0010235 abnormal retina inner limiting membrane morphology "any structural anomaly of the row of fused Muller cell processes and astrocytes that separates the retinal nerve fiber layer from the vitreous" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Myo5ad-n/Myo5ad-n
Genetic Background: B10.D2-H2d/nSnJ

 MP:0010452 retina microaneurysm "focal dilation of arteriocapillary junctions in the retina" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Irf7tm1Ttg/Irf7tm1Ttg
Genetic Background: B6.129P2-Irf7tm1Ttg

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Pomgnt1tm1Stk/Pomgnt1tm1Stk
Genetic Background: involves: 129S/SvEv

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Smad4tm2.1Cxd/Smad4tm2.1Cxd,Tg(Pou5f1-cre/ERT2)#Ysa/0
Genetic Background: involves: 129S6/SvEvTac

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000039952 Dag1 / Q62165 / Dystroglycan Alpha-dystroglycan Beta-dystroglycan / Q14118* / dystroglycan 1*  / reaction






 

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