Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8473
Gene name Gene Name - the full gene name approved by the HGNC.
O-linked N-acetylglucosamine (GlcNAc) transferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OGT
Synonyms (NCBI Gene) Gene synonyms aliases
HINCUT-1, HRNT1, MRX106, O-GLCNAC, OGT1, XLID106
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300255 8127 ENSG00000147162
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental Retardation, X-Linked Intellectual disability, X-linked 106 rs1114167891, rs943295842, rs1602155923, rs1602152230, rs1602147880, rs1131692155 N/A
Associations from Text Mining Disease 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