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This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
EOGT (EGF Domain Specific O-Linked N-Acetylglucosamine Transferase) is a Protein Coding gene. Diseases associated with EOGT include Adams-Oliver Syndrome 4 and Adams-Oliver Syndrome. Among its related pathways are Mucin type O-glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and protein N-acetylglucosaminyltransferase activity. An important paralog of this gene is POMGNT2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016262 | protein N-acetylglucosaminyltransferase activity | ISS | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA,IBA | 21873635 |
GO:0097363 | protein O-GlcNAc transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005788 | endoplasmic reticulum lumen | IEA,IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mucin type O-glycan biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006493 | protein O-linked glycosylation | ISS | -- |
GO:0097370 | protein O-GlcNAcylation via threonine | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Uridine 5'-diphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Uridine diphosphate-N-acetylglucosamine |
|
528-04-1 |
|
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | · | 16c | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 20 |
---|---|
SP1: | |
SP2: | |
SP3: | |
SP4: | |
SP5: | |
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EOGT 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EOGT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EOGT 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Eogt 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eogt 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | EOGT 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EOGT 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C3ORF64 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EOGT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eogt 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.7160 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC798087 30 |
|
||
eogt 31 |
|
OneToOne | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009279 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Eogt 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | CELE_H12D21.10 30 |
|
||
H12D21.10 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639398 | Uncertain Significance: Adams-Oliver syndrome 4 | 69,009,671(-) | G/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
683791 | Benign: not provided | 69,009,632(-) | C/T | INTRON_VARIANT | |
683801 | Benign: not provided | 69,005,190(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
712959 | Likely Benign: not provided | 69,004,491(-) | T/C | INTRON_VARIANT | |
732068 | Benign: Adams-Oliver syndrome 4 | 68,979,697(-) | G/A | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2725383 | CNV | deletion | 23290073 |
esv3369576 | CNV | duplication | 20981092 |
nsv237873 | CNV | deletion | 16902084 |
nsv478083 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adams-oliver syndrome 4 |
|
|
adams-oliver syndrome |
|
|
oliver syndrome |
|
|
dowling-degos disease |
|
|
lateral meningocele syndrome |
|
|