Gene Gene information from NCBI Gene database.
Entrez ID 8473
Gene name O-linked N-acetylglucosamine (GlcNAc) transferase
Gene symbol OGT
Synonyms (NCBI Gene)
HINCUT-1HRNT1MRX106O-GLCNACOGT1XLID106
Chromosome X
Chromosome location Xq13.1
Summary 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
SNPs SNP information provided by dbSNP.
7
SNP ID Visualize variation Clinical significance Consequence
rs797044898 G>A Uncertain-significance, pathogenic Intron variant, missense variant, coding sequence variant
rs943295842 T>C,G Pathogenic Intron variant
rs1114167891 G>C Pathogenic Missense variant, coding sequence variant, intron variant
rs1131692155 G>C,T Pathogenic Missense variant, coding sequence variant, intron variant
rs1602147880 A>G Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
miRNA miRNA information provided by mirtarbase database.
658
miRTarBase ID miRNA Experiments Reference
MIRT050178 hsa-miR-26a-5p CLASH 23622248
MIRT049427 hsa-miR-92a-3p CLASH 23622248
MIRT045697 hsa-miR-125a-5p CLASH 23622248
MIRT039274 hsa-miR-671-5p CLASH 23622248
MIRT110053 hsa-miR-103a-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
99
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II NAS 22865885
GO:0000123 Component Histone acetyltransferase complex IDA 20018852
GO:0000423 Process Mitophagy IEA
GO:0000423 Process Mitophagy ISS 33406421
GO:0000432 Process Positive regulation of transcription from RNA polymerase II promoter by glucose IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300255 8127 ENSG00000147162
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15294
Protein name UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit (EC 2.4.1.255) (O-GlcNAc transferase subunit p110) (O-linked N-acetylglucosamine transferase 110 kDa subunit) (OGT)
Protein function Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in cytoplasmic and nuclear proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc) (PubMed:12150998, PubMe
PDB 1W3B , 3PE3 , 3PE4 , 3TAX , 4AY5 , 4AY6 , 4CDR , 4GYW , 4GYY , 4GZ3 , 4GZ5 , 4GZ6 , 4N39 , 4N3A , 4N3B , 4N3C , 4XI9 , 4XIF , 5BNW , 5C1D , 5HGV , 5LVV , 5LWV , 5NPR , 5NPS , 5VIE , 5VIF , 6E37 , 6EOU , 6IBO , 6MA1 , 6MA2 , 6MA3 , 6MA4 , 6MA5 , 6Q4M , 6TKA , 7NTF , 7YEA , 7YEH , 8CM9 , 8FE6 , 8FE7 , 8FUF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13414 TPR_11 96 137 Repeat
PF13181 TPR_8 160 190 Tetratricopeptide repeat Repeat
PF00515 TPR_1 191 224 Tetratricopeptide repeat Repeat
PF13181 TPR_8 225 258 Tetratricopeptide repeat Repeat
PF13181 TPR_8 259 292 Tetratricopeptide repeat Repeat
PF13424 TPR_12 292 359 Repeat
PF13432 TPR_16 331 393 Family
PF13414 TPR_11 334 375 Repeat
PF13414 TPR_11 370 409 Repeat
PF13414 TPR_11 436 474 Repeat
PF13844 Glyco_transf_41 476 1016 Glycosyl transferase family 41 Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas and to a lesser extent in skeletal muscle, heart, brain and placenta. Present in trace amounts in lung and liver. {ECO:0000269|PubMed:9083068}.
Sequence
MASSVGNVADSTEPTKRMLSFQGLAELAHREYQAGDFEAAERHCMQLWRQEPDNTGVLLL
LSSIHFQCRRLDRSAHFSTLAIKQNPLLAEAYSNLGNVYKERGQLQEAIEHYRHALRLKP
DFIDGYINLAAALVAAG
DMEGAVQAYVSALQYNPDLYCVRSDLGNLLKALGRLEEAKACY
LKAIETQPNF
AVAWSNLGCVFNAQGEIWLAIHHFEKAVTLDPNFLDAYINLGNVLKEARI
FDRAVAAYLRALSLSPNH
AVVHGNLACVYYEQGLIDLAIDTYRRAIELQPHFPDAYCNLA
NALKEKGSVAEAEDCYNTALRLCPTHADSLNNLANIKREQGNIEEAVRLYRKALEVFPEF
AAAHSNLASVLQQQGKLQEALMHYKEAIRISPT
FADAYSNMGNTLKEMQ
DVQGALQCYTR
AIQINPAFADAHSNLASIHKDSGNIPEAIASYRTALKLKPDFPDAYCNLAHCLQIVCDWT
DYDERMKKLVSIVADQLEKNRLPSVHPHHSMLYPLSHGFRKAIAERHGNLCLDKINVLHK
PPYEHPKDLKLSDGRLRVGYVSSDFGNHPTSHLMQSIPGMHNPDKFEVFCYALSPDDGTN
FRVKVMAEANHFIDLSQIPCNGKAADRIHQDGIHILVNMNGYTKGARNELFALRPAPIQA
MWLGYPGTSGALFMDYIITDQETSPAEVAEQYSEKLAYMPHTFFIGDHANMFPHLKKKAV
IDFKSNGHIYDNRIVLNGIDLKAFLDSLPDVKIVKMKCPDGGDNADSSNTALNMPVIPMN
TIAEAVIEMINRGQIQITINGFSISNGLATTQINNKAATGEEVPRTIIVTTRSQYGLPED
AIVYCNFNQLYKIDPSTLQMWANILKRVPNSVLWLLRFPAVGEPNIQQYAQNMGLPQNRI
IFSPVAPKEEHVRRGQLADVCLDTPLCNGHTTGMDVLWAGTPMVTMPGETLASRVAASQL
TCLGCLELIAKNRQEYEDIAVKLGTDLEYLKKVRGKVWKQRISSPLFNTKQYTMEL
ERLY
LQMWEHYAAGNKPDHMIKPVEVTESA
Sequence length 1046
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Other types of O-glycan biosynthesis
Polycomb repressive complex
Insulin resistance
  HATs acetylate histones
UCH proteinases
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
53
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, X-linked 106 Likely pathogenic; Pathogenic rs2522869732, rs2522845856, rs1131692155, rs1114167891, rs943295842, rs1602155923, rs1602152230, rs1602147880 RCV002468756
RCV003333603
RCV000492058
RCV000492048
RCV000492053
RCV000850576
RCV000852378
RCV000991239
RCV000991242
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs142352068 RCV005926507
Clear cell carcinoma of kidney Likely benign rs142352068 RCV005926508
Colon adenocarcinoma Likely benign; Benign rs142352068, rs766625269 RCV005926506
RCV005870929
Colorectal cancer Likely benign rs142352068 RCV005926509
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
ACTH Secreting Pituitary Adenoma Associate 34418053
Adenocarcinoma Associate 26678539
Adenocarcinoma of Lung Associate 38213773
Alzheimer Disease Associate 19451179, 21732316, 24859566, 28657654, 29986387, 33285636, 34004049, 34186233
Aneuploidy Associate 27070276
Arrhythmias Cardiac Associate 36345035
Arts syndrome Associate 37308732
ATR X syndrome Associate 35863433
Breast Neoplasms Associate 11566258, 21567137, 28929346, 29864144, 30952976, 31019204, 33046784, 33214551, 34575972, 34974534, 40598910
Breast Neoplasms Stimulate 32236627