Details for Gene MTOR

GENE NAME MTOR
CHROMOSOME 1
ENSEMBL ID None
ENTREZ ID ENSG00000198793
UNIPROT ACCESSION NUMBER P42345
GO MOLECULAR FUNCTION ['protein kinase activity', 'RNA polymerase III type 1 promoter sequence-specific DNA binding', 'identical protein binding', 'protein serine/threonine kinase activity', 'TFIIIC-class transcription factor complex binding', 'ATP binding', 'protein serine kinase activity', 'phosphoprotein binding', 'kinase activity', 'RNA polymerase III type 2 promoter sequence-specific DNA binding', 'protein binding', 'ribosome binding', 'RNA polymerase III type 3 promoter sequence-specific DNA binding', 'protein serine/threonine/tyrosine kinase activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa01521; hsa01522; hsa04012; hsa04066; hsa04072; hsa04136; hsa04140; hsa04150; hsa04151; hsa04152; hsa04211; hsa04213; hsa04218; hsa04371; hsa04613; hsa04630; hsa04659; hsa04714; hsa04910; hsa04919; hsa04920; hsa04930; hsa04931; hsa04935; hsa05010; hsa05014; hsa05016; hsa05017; hsa05022; hsa05131; hsa05163; hsa05165; hsa05167; hsa05168; hsa05170; hsa05200; hsa05205; hsa05206; hsa05210; hsa05212; hsa05214; hsa05215; hsa05221; hsa05224; hsa05225; hsa05226; hsa05230; hsa05231; hsa05235; R-HSA-1257604; R-HSA-1280218; R-HSA-162582; R-HSA-1632852; R-HSA-1643685; R-HSA-165159; R-HSA-166208; R-HSA-168256; R-HSA-194138; R-HSA-212436; R-HSA-2219528; R-HSA-2262752; R-HSA-3371556; R-HSA-3371571; R-HSA-3700989; R-HSA-380972; R-HSA-388841; R-HSA-389356; R-HSA-389357; R-HSA-4420097; R-HSA-5218920; R-HSA-5628897; R-HSA-5633007; R-HSA-5663202; R-HSA-5674400; R-HSA-6804757; R-HSA-6806003; R-HSA-6807070; R-HSA-73857; R-HSA-74160; R-HSA-8943724; R-HSA-8953897; R-HSA-9006925; R-HSA-9006934; R-HSA-9612973; R-HSA-9639288
4 combinations linked to MTOR OLI1238; OLI859; OLI877; OLI906
4 variants linked to MTOR MTOR:c.5863C>T, p.Arg1955Cys; MTOR:c.889G>A, p.Asp297Asn; MTOR:c.167G>A, p.Ser56Asn; MTOR:c.307C>T, p.Arg103Ter
3 diseases linked to MTOR Normosmic congenital hypogonadotropic hypogonadism; Recurrent implantation failure,Primary infertility; Kallmann syndrome
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