InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EOGT

Summary

InnateDB Protein

IDBP-43833.7

Last Modified

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

Gene Symbol

EOGT

Protein Name

chromosome 3 open reading frame 64

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000295571

InnateDB Gene

IDBG-43829 (EOGT)

Protein Structure

UniProt Annotation

Function

Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N- acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains. {ECO:0000269PubMed:23671640}.

Subcellular Localization

Endoplasmic reticulum lumen {ECO:0000255PROSITE-ProRule:PRU10138}.

Disease Associations

Adams-Oliver syndrome 4 (AOS4) [MIM:615297]: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269PubMed:23522784}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.