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protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Summary

Gene Symbol

POMGNT1

Aliases

FLJ20277
LGMD2O
MGAT1.2
protein O-mannose beta-1,2-N-acetylglucosaminyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

55624

GGDB ID

gg123

HGNC

19139

mRNA

NM_017739

map

1p34.1

Protein

NP_060209

OMIM

606822

KEGG Gene ID

hsa:55624

PubChem

55624

Alliance of Genome Resources

HGNC:19139

Annotation

Keyword

3D-structure
Alternative splicing
Congenital muscular dystrophy
Disease variant
Disulfide bond
Dystroglycanopathy
Glycosyltransferase
Golgi apparatus
Lectin
Limb-girdle muscular dystrophy
Lissencephaly
Manganese
Metal-binding
Phosphoprotein
Proteomics identification
Reference proteome
Retinitis pigmentosa
Signal-anchor
Transmembrane helix

Proteins

Displaying **all 4** entries
UniProt	Protein Name
A0A8I5KNB7
B7Z7F2	N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase I
B7Z7Q4
Q8WZA1	UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
protein O-linked glycosylation	TAS
protein O-linked glycosylation	IDA	11709191
protein O-linked glycosylation	IMP	26908613 27391550
sensory perception of sound	IEA
gene expression	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein mannosylation [inference]

protein O-linked mannosylation

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein mannosylation [inference]

protein O-linked mannosylation

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein mannosylation [inference]

protein O-linked mannosylation

mannosylation [inference]

protein mannosylation [inference]

protein O-linked mannosylation

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

gene expression

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein mannosylation [inference]

protein O-linked mannosylation

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein mannosylation [inference]

protein O-linked mannosylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein mannosylation [inference]

protein O-linked mannosylation

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

cellular process [inference]

ensheathment of neurons [inference]

axon ensheathment [inference]

myelination

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

gene expression

localization of cell

cellular component organization or biogenesis [inference]

cellular component organization [inference]

extracellular structure organization [inference]

extracellular matrix organization [inference]

basement membrane organization

external encapsulating structure organization [inference]

extracellular matrix organization [inference]

basement membrane organization

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of mechanical stimulus [inference]

sensory perception of sound

developmental process [inference]

anatomical structure development [inference]

dentate gyrus development

response to stimulus [inference]

response to stress [inference]

defense response [inference]

inflammatory response [inference]

neuroinflammatory response [inference]

reactive gliosis

localization [inference]

localization of cell

Displaying **all 4** entries
GO Term	Evidence Code	PMID
Golgi membrane	TAS
Golgi membrane	IDA	17034757
Golgi membrane	IBA
membrane	IMP	27493216

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

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GO Term	Evidence Code	PMID
protein binding	IPI	17034757 25416956 28514442 29892012 32296183 32707033 33961781
acetylglucosaminyltransferase activity	IDA	27493216
acetylglucosaminyltransferase activity	IMP	26908613 27391550
manganese ion binding	IDA	27493216
carbohydrate binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

acetylglucosaminyltransferase activity

beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity

hexosyltransferase activity [inference]

acetylglucosaminyltransferase activity

beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity

catalytic activity, acting on a protein [inference]

catalytic activity, acting on a glycoprotein [inference]

beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

manganese ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

transporter

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

GlycoGene Database (GGDB)

GGDB ID

gg123

Gene Symbol

POMGNT1

Reactions

Displaying 1 entry
Donor	Acceptor	Reducing terminal(Acceptor)	Product	Reducing terminal(Product)	Reference
UDP-GlcNAc	G61491DK	Thr	G93952GX	Thr	11709191

Displaying **all 2** entries
Donor	Acceptor	Reducing terminal(Acceptor)	Reference
UDP-GlcNAc	G22768VO	pylidyramine	11709191
UDP-GlcNAc	G55220VL	pylidyramine	11709191

Orthologous Gene

Displaying **all 3** entries
Species	Protein	mRNA
Caenorhabditis elegans	NP_500183	NM_067782
Mus musculus	NP_080927	NM_026651
Rattus norvegicus	NP_001007748	NM_001007747

KEGG BRITE Database

Orthology

K09666

Name

beta-1,2-N-acetylglucosaminyltransferase [EC:2.4.1.-]

References

11709191

Reactions

Displaying 1 entry
KEGG Reaction	Enzyme	Acceptor	Product
R07619	2.4.1.-	G61491DK	G85856KC

Rhea

RHEA:11456

UDP-N-acetyl-α-D-glucosamine

H⁺ + UDP

Enzyme

2.4.1.101

PMID

Disease

Disease Ontology

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:0050453	lissencephaly	Alliance of Genome Resources
DOID:0050560	Walker-Warburg syndrome	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O	Alliance of Genome Resources
DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3	Glyco-Disease Genes Database Alliance of Genome Resources
DOID:0112378	muscular dystrophy-dystroglycanopathy type B3	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa	Alliance of Genome Resources
DOID:9884	muscular dystrophy	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000035	Abnormal testis morphology
HP:0000135	Hypogonadism
HP:0000158	Macroglossia
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000232	Everted lower lip vermilion
HP:0000238	Hydrocephalus

Displaying **all 8** entries
Disease ID	Disease Name
ORPHA:370959	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy type B5 obsolete congenital muscular dystrophy with cerebellar involvement
OMIM:613151	muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
ORPHA:899	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A
OMIM:613157	autosomal recessive limb-girdle muscular dystrophy type 2O
ORPHA:791	Leber congenital amaurosis 14 Leber congenital amaurosis 4 retinitis pigmentosa
OMIM:617123	retinitis pigmentosa 76
ORPHA:588	muscle-eye-brain disease muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
OMIM:253280	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3

PubChem Disease

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	55624	Xenbase:XB-GENE-959856
Mus musculus	68273	Xenbase:XB-GENE-959856	MOUSE40777
Rattus norvegicus	362567	Xenbase:XB-GENE-959856	RATNO32806
Xenopus tropicalis	414570	Xenbase:XB-GENE-959856
Pan troglodytes	456564		PANTR20974
Canis lupus familiaris	482511		CANLF04063
Xenopus tropicalis	495292	Xenbase:XB-GENE-959856
Bos taurus	506551		BOVIN27036
Danio rerio	571876	Xenbase:XB-GENE-959856	DANRE37989
Macaca mulatta	707205		MACMU25446

GlyTouCan

GlyComb

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UniCarb-DR

LM-GlycoRepo

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Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements