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protein O-glucosyltransferase 1

Summary

Gene Symbol

POGLUT1

Aliases

9630046K23Rik
KDELC family like 1
KDELCL1
MDS010
MDSRP
MGC32995
Rumi
hCLP46

Organism

Homo sapiens (human)

External Links

NCBI Gene

56983

GGDB ID

gg208

HGNC

22954

mRNA

NM_152305

Protein

NP_689518

OMIM

615618

KEGG Gene ID

hsa:56983

PubChem

56983

Alliance of Genome Resources

HGNC:22954

Annotation

Keyword

3D-structure
Direct protein sequencing
Disease variant
Disulfide bond
Endoplasmic reticulum
Gastrulation
Glycoprotein
Glycosyltransferase
Limb-girdle muscular dystrophy
Reference proteome
Signal

Proteins

Displaying **all 2** entries
UniProt	Protein Name
B4DJ97
Q8NBL1	CAP10-like 46 kDa protein KTEL motif-containing protein 1 Myelodysplastic syndromes relative protein O-glucosyltransferase Rumi homolog Protein O-xylosyltransferase POGLUT1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 10 in total

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GO Term	Evidence Code	PMID
protein O-linked glycosylation	IBA IDA	21949356
somitogenesis	IEA
circulatory system development	IEA
muscle tissue development	IMP	27807076
positive regulation of Notch signaling pathway	IBA IMP	27807076

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 O-linked glycosylation via serine

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

primary metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked glycosylation via serine

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked glycosylation via serine

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked glycosylation via serine

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked glycosylation via serine

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

macromolecule glycosylation [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked glycosylation via serine

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein glycosylation [inference]

protein O-linked glycosylation

protein O-linked glycosylation via serine

peptidyl-amino acid modification [inference]

peptidyl-serine modification [inference]

protein O-linked glycosylation via serine

multicellular organismal process [inference]

pattern specification process [inference]

regionalization [inference]

anterior/posterior pattern specification [inference]

somitogenesis

segmentation [inference]

somitogenesis

developmental process [inference]

anatomical structure morphogenesis [inference]

embryonic morphogenesis [inference]

gastrulation

anatomical structure formation involved in morphogenesis [inference]

somitogenesis

anatomical structure development [inference]

tissue development [inference]

mesoderm development [inference]

mesenchyme development [inference]

paraxial mesoderm development

muscle tissue development

system development [inference]

circulatory system development

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of Notch signaling pathway [inference]

positive regulation of Notch signaling pathway

positive regulation of signal transduction [inference]

positive regulation of Notch signaling pathway

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of Notch signaling pathway

positive regulation of biological process [inference]

positive regulation of signaling [inference]

positive regulation of signal transduction [inference]

positive regulation of Notch signaling pathway

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of Notch signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of Notch signaling pathway

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of Notch signaling pathway [inference]

positive regulation of Notch signaling pathway

positive regulation of signal transduction [inference]

positive regulation of Notch signaling pathway

positive regulation of response to stimulus [inference]

positive regulation of signal transduction [inference]

positive regulation of Notch signaling pathway

regulation of developmental process [inference]

regulation of anatomical structure morphogenesis [inference]

regulation of gastrulation

regulation of multicellular organismal development [inference]

regulation of embryonic development [inference]

regulation of gastrulation

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of Notch signaling pathway [inference]

positive regulation of Notch signaling pathway

positive regulation of signal transduction [inference]

positive regulation of Notch signaling pathway

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of Notch signaling pathway

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of signal transduction [inference]

positive regulation of Notch signaling pathway

regulation of multicellular organismal process [inference]

regulation of multicellular organismal development [inference]

regulation of embryonic development [inference]

regulation of gastrulation

Displaying **all 3** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum lumen	IDA	16524674 27807076
endoplasmic reticulum	IDA
endomembrane system	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

endomembrane system

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

Displaying **all 5** entries
GO Term	Evidence Code	PMID
glucosyltransferase activity	IDA	21949356
EGF-domain serine xylosyltransferase activity	IEA
UDP-xylosyltransferase activity	IBA IMP	27807076
EGF-domain serine glucosyltransferase activity	IEA
UDP-glucosyltransferase activity	IBA IDA IMP	21081508 27807076 30127001

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity [inference]

UDP-glycosyltransferase activity [inference]

UDP-glucosyltransferase activity

EGF-domain serine glucosyltransferase activity

UDP-xylosyltransferase activity

EGF-domain serine xylosyltransferase activity

hexosyltransferase activity [inference]

glucosyltransferase activity

UDP-glucosyltransferase activity

EGF-domain serine glucosyltransferase activity

pentosyltransferase activity [inference]

xylosyltransferase activity [inference]

UDP-xylosyltransferase activity

EGF-domain serine xylosyltransferase activity

Gene Ontology information from NCBI Gene and UniProt.

GlycoGene Database (GGDB)

GGDB ID

gg208

Gene Symbol

POGLUT1

KEGG BRITE Database

Orthology

K13667

Name

EGF-domain serine glucosyl/xylosyltransferase [EC:2.4.1.376 2.4.2.63]

References

Rhea

RHEA:58116

UDP-α-D-glucose

H⁺ + UDP

Enzyme

2.4.1.376

PMID

RHEA:62016

UDP-α-D-xylose

H⁺ + UDP

Enzyme

2.4.2.63

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 69 in total

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DO ID	Disease Name	Source
DOID:0050557	congenital muscular dystrophy	DisGeNET
DOID:0050908	myelodysplastic syndrome	DisGeNET
DOID:0060255	rippling muscle disease 2	DisGeNET
DOID:1324	lung cancer	DisGeNET
DOID:0060256	Dowling-Degos disease	DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0060258	reticulate acropigmentation of Kitamura	DisGeNET DisGeNET
DOID:0070247	autosomal dominant Emery-Dreifuss muscular dystrophy 2	DisGeNET
DOID:0080092	myofibrillar myopathy 1	DisGeNET
DOID:0080094	myofibrillar myopathy 3	DisGeNET
DOID:0080145	childhood T-cell acute lymphoblastic leukemia	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 29 in total

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000464	Abnormality of the neck
HP:0000962	Hyperkeratosis
HP:0000989	Pruritus
HP:0001034	Hypermelanotic macule
HP:0001155	Abnormality of the hand
HP:0001231	Abnormal fingernail morphology
HP:0001369	Arthritis
HP:0002046	Heat intolerance

Displaying **all 3** entries
Disease ID	Disease Name
OMIM:617232	autosomal recessive limb-girdle muscular dystrophy type 2R1
OMIM:615696	Dowling-Degos disease 4
ORPHA:79145	Dowling-Degos disease

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **1 - 10** of 69 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	42698	FB:FBgn0051139
Drosophila melanogaster	326122	FB:FBgn0086253
Callorhinchus milii	103190449		CALMI43740
Danio rerio	641495	ZFIN:ZDB-GENE-051120-24	DANRE17202
Astyanax mexicanus	103033884		ASTMX11898
Ictalurus punctatus	108259071		ICTPU21133
Salmo trutta	115196125		SALTR97500
Chrysemys picta bellii	101932750		CHRPI32160
Pseudonaja textilis	113436333		PSETE07362
Ornithorhynchus anatinus	103167158		ORNAN08010

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements