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This gene encodes a glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Since both phosphorylation and glycosylation compete for similar serine or threonine residues, the two processes may compete for sites, or they may alter the substrate specificity of nearby sites by steric or electrostatic effects. The protein contains multiple tetratricopeptide repeats that are required for optimal recognition of substrates. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
OGT (O-Linked N-Acetylglucosamine (GlcNAc) Transferase) is a Protein Coding gene. Diseases associated with OGT include Mental Retardation, X-Linked 106 and Myoepithelioma. Among its related pathways are Deubiquitination and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include identical protein binding and phosphatidylinositol-3,4,5-trisphosphate binding. An important paralog of this gene is TMTC2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 12150998 |
GO:0005547 | phosphatidylinositol-3,4,5-trisphosphate binding | IDA | 18288188 |
GO:0008289 | lipid binding | IEA | -- |
GO:0008375 | acetylglucosaminyltransferase activity | TAS | 9083068 |
GO:0016262 | protein N-acetylglucosaminyltransferase activity | IBA,IMP | 26678539 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000123 | histone acetyltransferase complex | IDA | 20018852 |
GO:0005634 | nucleus | TAS,IDA | 21285374 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | Insulin resistance | ||
3 | Metabolism of proteins | ||
4 | Glucose / Energy Metabolism | ||
5 | Mucin type O-glycan biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006110 | regulation of glycolytic process | IDA | 22923583 |
GO:0006111 | regulation of gluconeogenesis | ISS | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IMP | 26678539 |
GO:0006486 | protein glycosylation | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Lactosamine |
|
13000-25-4 |
|
|||
Uridine diphosphate-N-acetylgalactosamine |
|
7277-98-7 |
|
|||
Uridine diphosphate-N-acetylglucosamine |
|
528-04-1 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | · | 7c | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | · | 21c | ^ | 22a | · | 22b | ^ | 23 | ^ | 24a | · | 24b | · | 24c | ^ | 25 | ^ | 26 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||
SP7: | - | ||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||
SP12: | - | ||||||||||||||||||||||||||||||
SP13: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | OGT 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | OGT 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | OGT 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ogt 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ogt 30 |
|
||
Chimpanzee (Pan troglodytes) |
Mammalia | OGT 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | OGT 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | OGT 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ogt 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.25936 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ogt.2 31 |
|
OneToMany | |
ogt.1 30 31 |
|
OneToMany | |||
wufr75f09 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10249 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | sxc 30 31 |
|
OneToOne | |
Ogt 32 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006254 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | K04G7.3 32 |
|
|
|
ogt-1 30 31 |
|
OneToOne | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SEC 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os.45968 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.28845 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.15222 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
930082 | Uncertain Significance: not specified | 71,561,802(+) |
C/T NM_181672.3(OGT):c.1879C>T (p.Arg627Cys) |
MISSENSE | |
932133 | Uncertain Significance: Intellectual disability, X-linked 106 | 71,567,546(+) |
C/T NM_181672.3(OGT):c.2636C>T (p.Pro879Leu) |
MISSENSE | |
932610 | Uncertain Significance: not provided | 71,573,628(+) |
A/T NM_181672.3(OGT):c.2975A>T (p.Lys992Ile) |
MISSENSE | |
989385 | Uncertain Significance: OGT-related X-linked syndromic intellectual disability | 71,564,697(+) |
T/A NM_181672.3(OGT):c.2533T>A (p.Cys845Ser) |
MISSENSE | |
rs1114167891 | Pathogenic: Intellectual disability, X-linked 106. Mental retardation, X-linked 106 (MRX106) [MIM:300997] | 71,555,312(+) |
G/Cp.Arg284Pro NM_181672.3(OGT):c.851G>C (p.Arg284Pro) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1584074 | OTHER | inversion | 17803354 |
esv2740213 | CNV | deletion | 23290073 |
esv33082 | CNV | loss | 17666407 |
esv3574043 | CNV | loss | 25503493 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, x-linked 106 |
|
|
myoepithelioma |
|
|
syndromic intellectual disability |
|
|
adams-oliver syndrome |
|
|
alzheimer disease |
|
|