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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 14 in total

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GO Term	Evidence Code	PMID
somitogenesis	IEA
protein glycosylation
protein O-linked glycosylation	IDA	21949356
protein O-linked glycosylation	IBA
gastrulation	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

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

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

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

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

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

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

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	IDA
endoplasmic reticulum lumen	IDA	16524674 27807076
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 entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
glycosyltransferase activity
UDP-glucosyltransferase activity	IDA	21081508 30127001
UDP-glucosyltransferase activity	IMP	27807076
UDP-glucosyltransferase activity	IBA
UDP-xylosyltransferase activity	IMP	27807076

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity

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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

O-glucosyltransferase

Functional Category

E: Amino acid transport and metabolism
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
transferase activity

Displaying 1 entry
InterPro
Glycosyl transferase CAP10 domain

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:62016

UDP-α-D-xylose

H⁺ + UDP

Enzyme

2.4.2.63

PMID

RHEA:58116

UDP-α-D-glucose

H⁺ + UDP

Enzyme

2.4.1.376

PMID

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0060256	Dowling-Degos disease	Alliance of Genome Resources
DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z	Alliance of Genome Resources

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:615696	Dowling-Degos disease 4
ORPHA:79145	Dowling-Degos disease
OMIM:617232	autosomal recessive limb-girdle muscular dystrophy type 2R1

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **11 - 20** of 70 in total

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Species	Gene ID	Orthologous MAtrix
Equus caballus	100071030	HORSE14416
Callithrix jacchus	100392996	CALJA12261
Pongo abelii	100442484	PONAB26094
Ailuropoda melanoleuca	100480912	AILME16827
Sus scrofa	100525611	PIGXX05632
Nomascus leucogenys	100601138	NOMLE20152
Loxodonta africana	100661725	LOXAF11228
Cavia porcellus	100736113	CAVPO14642
Cricetulus griseus	100760325	CRIGR18913
Otolemur garnettii	100964166	OTOGA07600

GlyTouCan

GlyComb

GlycoPOST

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