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MTOR (mechanistic target of rapamycin kinase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2475
Gene nameGene Name - the full gene name approved by the HGNC.
Mechanistic target of rapamycin kinase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MTOR
SynonymsGene synonyms aliases
FRAP, FRAP1, FRAP2, RAFT1, RAPT1, SKS
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mT
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs55881943 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, non coding transcript variant
rs147774167 G>A Conflicting-interpretations-of-pathogenicity Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs587777893 G>A,T Not-provided, pathogenic Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs587777894 G>A,T Pathogenic, likely-pathogenic, not-provided Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs587777900 C>T Likely-pathogenic, not-provided Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006146 hsa-miR-99a-5p Luciferase reporter assay, qRT-PCR, Western blot 21878637
MIRT006146 hsa-miR-99a-5p Luciferase reporter assay, qRT-PCR, Western blot 21878637
MIRT006155 hsa-miR-520c-3p Luciferase reporter assay, qRT-PCR, Western blot 21898400
MIRT006155 hsa-miR-520c-3p Luciferase reporter assay, qRT-PCR, Western blot 21898400
MIRT006157 hsa-miR-373-3p Luciferase reporter assay, qRT-PCR, Western blot 21898400
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001002 Function RNA polymerase III type 1 promoter sequence-specific DNA binding IDA 20233713
GO:0001003 Function RNA polymerase III type 2 promoter sequence-specific DNA binding IDA 20233713
GO:0001006 Function RNA polymerase III type 3 promoter sequence-specific DNA binding IDA 20233713
GO:0001156 Function TFIIIC-class transcription factor complex binding IDA 20543138
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P42345
Protein name Serine/threonine-protein kinase mTOR (EC 2.7.11.1) (FK506-binding protein 12-rapamycin complex-associated protein 1) (FKBP12-rapamycin complex-associated protein) (Mammalian target of rapamycin) (mTOR) (Mechanistic target of rapamycin) (Rapamycin and FKBP
Protein function Serine/threonine protein kinase which is a central regulator of cellular metabolism, growth and survival in response to hormones, growth factors, nutrients, energy and stress signals (PubMed:12087098, PubMed:12150925, PubMed:12150926, PubMed:122
PDB 1AUE , 1FAP , 1NSG , 2FAP , 2GAQ , 2NPU , 2RSE , 3FAP , 3JBZ , 4DRH , 4DRI , 4DRJ , 4FAP , 4JSN , 4JSP , 4JSV , 4JSX , 4JT5 , 4JT6 , 5FLC , 5GPG , 5H64 , 5WBH , 5WBU , 5WBY , 5ZCS , 6BCU , 6BCX , 6M4U , 6M4W , 6SB0 , 6SB2 , 6ZWM , 6ZWO , 7EPD , 7OWG , 7PE7 , 7PE8 , 7PE9 , 7PEA , 7PEB , 7PEC , 7TZO , 7UXC , 7UXH , 8ER6 , 8ER7 , 8ERA , 8PPZ , 8RCH , 8RCK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11865 DUF3385
854 1024
Domain of unknown function (DUF3385)
Family
PF02259 FAT
1513 1908
FAT domain
Family
PF08771 FRB_dom
2015 2113
FKBP12-rapamycin binding domain
Domain
PF00454 PI3_PI4_kinase
2181 2431
Phosphatidylinositol 3- and 4-kinase
Family
PF02260 FATC
2518 2549
FATC domain
Family
Sequence
MLGTGPAAATTAATTSSNVSVLQQFASGLKSRNEETRAKAAKELQHYVTMELREMSQEES
TRFYDQLNHHIFELVSSSDANERKGGILAIASLIGVEGGNATRIGRFANYLRNLLPSNDP
VVMEMASKAIGRLAMAGDTFTAEYVEFEVKRALEWLGADRNEGRRHAAVLVLRELAISVP
TFFFQQVQPFFDNIFVAVWDPKQAIREGAVAALRACLILTTQREPKEMQKPQWYRHTFEE
AEKGFDETLAKEKGMNRDDRIHGALLILNELVRISSMEGERLREEMEEITQQQLVHDKYC
KDLMGFGTKPRHITPFTSFQAVQPQQSNALVGLLGYSSHQGLMGFGTSPSPAKSTLVESR
CCRDLMEEKFDQVCQWVLKCRNSKNSLIQMTILNLLPRLAAFRPSAFTDTQYLQDTMNHV
LSCVKKEKERTAAFQALGLLSVAVRSEFKVYLPRVLDIIRAALPPKDFAHKRQKAMQVDA
TVFTCISMLARAMGPGIQQDIKELLEPMLAVGLSPALTAVLYDLSRQIPQLKKDIQDGLL
KMLSLVLMHKPLRHPGMPKGLAHQLASPGLTTLPEASDVGSITLALRTLGSFEFEGHSLT
QFVRHCADHFLNSEHKEIRMEAARTCSRLLTPSIHLISGHAHVVSQTAVQVVADVLSKLL
VVGITDPDPDIRYCVLASLDERFDAHLAQAENLQALFVALNDQVFEIRELAICTVGRLSS
MNPAFVMPFLRKMLIQILTELEHSGIGRIKEQSARMLGHLVSNAPRLIRPYMEPILKALI
LKLKDPDPDPNPGVINNVLATIGELAQVSGLEMRKWVDELFIIIMDMLQDSSLLAKRQVA
LWTLGQLVASTGYVVEPYRKYPTLLEVLLNFLKTEQNQGTRREAIRVLGLLGALDPYKHK
VNIGMIDQSRDASAVSLSESKSSQDSSDYSTSEMLVNMGNLPLDEFYPAVSMVALMRIFR
DQSLSHHHTMVVQAITFIFKSLGLKCVQFLPQVMPTFLNVIRVCDGAIREFLFQQLGMLV
SFVK
SHIRPYMDEIVTLMREFWVMNTSIQSTIILLIEQIVVALGGEFKLYLPQLIPHMLR
VFMHDNSPGRIVSIKLLAAIQLFGANLDDYLHLLLPPIVKLFDAPEAPLPSRKAALETVD
RLTESLDFTDYASRIIHPIVRTLDQSPELRSTAMDTLSSLVFQLGKKYQIFIPMVNKVLV
RHRINHQRYDVLICRIVKGYTLADEEEDPLIYQHRMLRSGQGDALASGPVETGPMKKLHV
STINLQKAWGAARRVSKDDWLEWLRRLSLELLKDSSSPSLRSCWALAQAYNPMARDLFNA
AFVSCWSELNEDQQDELIRSIELALTSQDIAEVTQTLLNLAEFMEHSDKGPLPLRDDNGI
VLLGERAAKCRAYAKALHYKELEFQKGPTPAILESLISINNKLQQPEAAAGVLEYAMKHF
GELEIQATWYEKLHEWEDALVAYDKKMDTNKDDPELMLGRMRCLEALGEWGQLHQQCCEK
WTLVNDETQAKMARMAAAAAWGLGQWDSMEEYTCMIPRDTHDGAFYRAVLALHQDLFSLA
QQCIDKARDLLDAELTAMAGESYSRAYGAMVSCHMLSELEEVIQYKLVPERREIIRQIWW
ERLQGCQRIVEDWQKILMVRSLVVSPHEDMRTWLKYASLCGKSGRLALAHKTLVLLLGVD
PSRQLDHPLPTVHPQVTYAYMKNMWKSARKIDAFQHMQHFVQTMQQQAQHAIATEDQQHK
QELHKLMARCFLKLGEWQLNLQGINESTIPKVLQYYSAATEHDRSWYKAWHAWAVMNFEA
VLHYKHQNQARDEKKKLRHASGANITNATTAATTAATATTTASTEGSNSESEAESTENSP
TPSPLQKKVTEDLSKTLLMYTVPAVQGFFRSISLSRGNNLQDTLRVLT
LWFDYGHWPDVN
EALVEGVKAIQIDTWLQVIPQLIARIDTPRPLVGRLIHQLLTDIGRYHPQALIYPLTVAS
KSTTTARHNAANKILKNMCEHSNTLVQQAMMVSEELIRVAILWHEMWHEGLEEASRLYFG
ERNVKGMFEVLEPLHAMMERGPQTLKETSFNQAYGRDLMEAQEWCRKYMKSGNVKDLTQA
WDLYYHVFRRISK
QLPQLTSLELQYVSPKLLMCRDLELAVPGTYDPNQPIIRIQSIAPSL
QVITSKQRPRKLTLMGSNGHEFVFLLKGHEDLRQDERVMQLFGLVNTLLANDPTSLRKNL
SIQRYAVIPLSTNSGLIGWVPHCDTLHALIRDYREKKKILLNIEHRIMLRMAPDYDHLTL
MQKVEVFEHAVNNTAGDDLAKLLWLKSPSSEVWFDRRTNYTRSLAVMSMVGYILGLGDRH
PSNLMLDRLSGKILHIDFGDCFEVAMTREKFPEKIPFRLTRMLTNAMEVTGLDGNYRITC
HTVMEVLREHKDSVMAVLEAFVYDPLLNWRL
MDTNTKGNKRSRTRTDSYSAGQSVEILDG
VELGEPAHKKTGTTVPESIHSFIGDGLVKPEALNKKAIQIINRVRDKLTGRDFSHDDTLD
VPTQVELLIKQATSHENLCQCYIGWCPFW
Sequence length 2549
Interactions View interactions

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