InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: POGLUT1

Summary

InnateDB Protein

IDBP-51211.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POGLUT1

Protein Name

protein O-glucosyltransferase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000295588

InnateDB Gene

IDBG-51209 (POGLUT1)

Protein Structure

UniProt Annotation

Function

Dual specificity glycosyltransferase. Catalyzes the transfer of glucose and xylose from UDP-glucose and UDP-xylose, respectively, to EGF repeats, such as those found in F7, F9 and NOTCH2, on the consensus sequence C-X-S-X-P-C. Positively regulates Notch signaling without affecting Notch ligand binding. {ECO:0000269PubMed:21081508, ECO:0000269PubMed:21490058, ECO:0000269PubMed:21949356}.

Subcellular Localization

Endoplasmic reticulum lumen {ECO:0000269PubMed:16524674, ECO:0000269PubMed:24387993}.

Disease Associations

Dowling-Degos disease 4 (DDD4) [MIM:615696]: A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. {ECO:0000269PubMed:24387993}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in most adult tissues at different intensities. Abundantly expressed in liver. Expressed also in brain, heart, skeletal muscle, spleen, kidney, placenta, lung and peripheral blood leukocyte. Not detectable in colon, thymus and small intestine. Expressed in the epidermis, especially in the upper parts, stratum spinosum and stratum granulosum (at protein level). {ECO:0000269PubMed:16524674, ECO:0000269PubMed:24387993}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0030158	protein xylosyltransferase activity
GO:0035251	UDP-glucosyltransferase activity
GO:0035252	UDP-xylosyltransferase activity
GO:0046527	glucosyltransferase activity

Biological Process

GO:0006493	protein O-linked glycosylation
GO:0007219	Notch signaling pathway
GO:0008593	regulation of Notch signaling pathway
GO:0072358	cardiovascular system development