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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
positive regulation of Notch signaling pathway	IBA IMP	27807076
protein O-linked glycosylation	IBA IDA	21949356
circulatory system development	IEA
somitogenesis	IEA
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 [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 glucosyltransferase activity	IEA
EGF-domain serine xylosyltransferase activity	IEA
UDP-glucosyltransferase activity	IBA IDA IMP	21081508 27807076 30127001
UDP-xylosyltransferase activity	IBA IMP	27807076

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.

OrthoDB (Group)

Group level

Eukaryota

Group Name

O-glucosyltransferase

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
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: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 **all 3** 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
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	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:617232	autosomal recessive limb-girdle muscular dystrophy type 2R1
ORPHA:79145	Dowling-Degos disease
OMIM:615696	Dowling-Degos disease 4

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **1 - 10** of 70 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Drosophila melanogaster	42698		FB:FBgn0051139
Mus musculus	224143		MGI:2444232	MOUSE17521
Rattus norvegicus	288091		RGD:1306248
Drosophila melanogaster	326122		FB:FBgn0086253
Pan troglodytes	460605	9598_0:000f43		PANTR31903
Bos taurus	511862			BOVIN14550
Danio rerio	641495		ZFIN:ZDB-GENE-051120-24	DANRE17202
Macaca mulatta	712357			MACMU28874
Monodelphis domestica	100016192			MONDO21016
Equus caballus	100071030			HORSE14416

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements