Gene Page: TSC1

Summary
GeneID  7248
Symbol  TSC1
Synonyms  KIAA0243|LAM|MGC86987|TSC
Description  tuberous sclerosis 1
See related  HGNC:12362|MIM:605284|Ensembl:ENSG00000165699|HPRD:05594|
Locus tag  -
Gene type  protein-coding
Map location  9q34
 
Gene in Data Sources
Gene set name Method of gene set Evidence Info
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 4 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.0323 
 
General Gene Expression (microarray) ?
 
Gene Expression in Brain Regions (new)
 
Top co-expressed genes in Brain Regions (new)
GenePearson's Correlation Spearman's Correlation
Top 10 positively co-expressed genes
ITPKA0.620.61
TMEM38A0.610.64
MPL0.600.53
CALHM20.600.61
FHL20.600.51
TMEM2210.600.60
AC136297.10.580.66
GRASP0.580.61
PLA2G4A0.580.67
EGFL70.580.62
Top 10 negatively co-expressed genes
ZNF311-0.38-0.35
TMC2-0.38-0.42
UPF3A-0.38-0.42
ANKRD36-0.38-0.51
SH3BP2-0.37-0.41
RBMX2-0.36-0.49
PDE9A-0.36-0.41
ZNF300-0.36-0.34
GALNT8-0.35-0.33
OFD1-0.35-0.41
Gene Ontology
Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0051087chaperone bindingIPI10585443 
GO:0047485protein N-terminus bindingIPI10806479 |12226091 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0042552myelinationIEAneuron, axon, Brain, oligodendrocyte (GO term level: 13)-
GO:0050808synapse organizationIEAneuron, Synap (GO term level: 5)-
GO:0030030cell projection organizationIEAaxon (GO term level: 7)-
GO:0007399nervous system developmentIEAneurite (GO term level: 5)-
GO:0001843neural tube closureIEA-
GO:0001822kidney developmentIEA-
GO:0001952regulation of cell-matrix adhesionIMP10806479 
GO:0055007cardiac muscle cell differentiationIEA-
GO:0006407rRNA export from nucleusIMP17308101 
GO:0008285negative regulation of cell proliferationIEA-
GO:0008285negative regulation of cell proliferationIMP10915759 
GO:0009790embryonic developmentIEA-
GO:0006813potassium ion transportIEA-
GO:0021987cerebral cortex developmentIEA-
GO:0031397negative regulation of protein ubiquitinationIDA11175345 
GO:0032868response to insulin stimulusIDA16996505 
GO:0032862activation of Rho GTPase activityIDA10806479 
GO:0021766hippocampus developmentIEA-
GO:0032007negative regulation of TOR signaling pathwayIMP17308101 
GO:0017148negative regulation of translationIMP17308101 
GO:0045792negative regulation of cell sizeIEA-
GO:0045859regulation of protein kinase activityIEA-
GO:0045786negative regulation of cell cycleIEA-
GO:0043666regulation of phosphoprotein phosphatase activityIMP17308101 
GO:0051492regulation of stress fiber formationIDA10806479 
GO:0051894positive regulation of focal adhesion formationIDA10806479 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005829cytosolEXP15314020 |15589136 
GO:0005829cytosolIDA10585443 
GO:0005624membrane fractionIDA16636147 
GO:0005737cytoplasmIDA9580671 
GO:0005737cytoplasmIEA-
GO:0016020membraneIEA-
GO:0030027lamellipodiumIDA10806479 
GO:0005938cell cortexIDA10806479 
GO:0005884actin filamentIDA10806479 
GO:0033596TSC1-TSC2 complexIDA9580671 
 
Protein-protein InteractionsShown by network
InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ACTA1ACTA | ASMA | CFTD | CFTD1 | CFTDM | MPFD | NEM1 | NEM2 | NEM3actin, alpha 1, skeletal muscleCo-localizationBioGRID10806479 
AKT1AKT | MGC99656 | PKB | PKB-ALPHA | PRKBA | RAC | RAC-ALPHAv-akt murine thymoma viral oncogene homolog 1-HPRD,BioGRID12167664 
AXIN1AXIN | MGC52315axin 1Affinity Capture-WesternBioGRID12511557 
CCNB1CCNBcyclin B1-HPRD11444800 
CDC2CDC28A | CDK1 | DKFZp686L20222 | MGC111195cell division cycle 2, G1 to S and G2 to MReconstituted ComplexBioGRID14551205 
-HPRD11444800 
CDKN1BCDKN4 | KIP1 | MEN1B | MEN4 | P27KIP1cyclin-dependent kinase inhibitor 1B (p27, Kip1)Affinity Capture-WesternBioGRID15355997 
DOCK7KIAA1771 | ZIR2dedicator of cytokinesis 7Affinity Capture-MSBioGRID15963462 
EZRCVIL | CVL | DKFZp762H157 | FLJ26216 | MGC1584 | VIL2ezrinHamartin interacts with ezrin.BIND10806479 
-HPRD,BioGRID10806479 
GSK3B-glycogen synthase kinase 3 betaAffinity Capture-WesternBioGRID12511557 
MSN-moesin-HPRD,BioGRID12226091 
Hamartin interacts with moesin. This interaction was modeled on a demonstrated interaction between murine hamartin and human moesin.BIND10806479 
NEFLCMT1F | CMT2E | FLJ53642 | NF-L | NF68 | NFLneurofilament, light polypeptide-HPRD,BioGRID12226091 
Hamartin interacts with neurofilament-L.BIND12226091 
NF2ACN | BANF | SCHneurofibromin 2 (merlin)-HPRD12226091 
Hamartin interacts with Merlin. This interaction was modeled on a demonstrated interaction between human hamartin and moesin from an unspecified species.BIND12226091 
PAMPAL | PHMpeptidylglycine alpha-amidating monooxygenaseCo-localizationBioGRID14559897 
PLK1PLK | STPK13polo-like kinase 1 (Drosophila)Affinity Capture-WesternBioGRID16339216 
PTK2FADK | FAK | FAK1 | pp125FAKPTK2 protein tyrosine kinase 2Affinity Capture-WesternBioGRID17043358 
RDXDFNB24radixinHamartin interacts with radixin. This interaction was modeled on a demonstrated interaction between murine hamartin and human radixin.BIND10806479 
-HPRD10806479|12226091 
RHEBMGC111559 | RHEB2Ras homolog enriched in brainBiochemical ActivityBioGRID12820960 
RPS6KA1HU-1 | MAPKAPK1A | RSK | RSK1ribosomal protein S6 kinase, 90kDa, polypeptide 1Affinity Capture-WesternBioGRID15342917 
TSC1KIAA0243 | LAM | MGC86987 | TSCtuberous sclerosis 1Two-hybridBioGRID10585443 
TSC2FLJ43106 | LAM | TSC4tuberous sclerosis 2Affinity Capture-MS
Affinity Capture-Western
Co-localization
Co-purification
Two-hybrid		BioGRID9580671 |10585443 
|10807585 |10915759 
|11175345 |11290735 
|11741832 |11741833 
|12167664 |12176984 
|12468542 |12511557 
|14551205 |14651849 
|15340059 |15851026 
|15963462 |16339216 
|16424383 |16636147 
|17077083 
-HPRD10915759 |11741833 
-HPRD9580671 |10915759 
|11741833|10915759 |11741833 
Hamartin interacts with tuberinBIND9580671 
YWHAA-tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptideAffinity Capture-WesternBioGRID12176984 |12468542 
YWHABGW128 | HS1 | KCIP-1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptideHamartin interacts with 14-3-3-beta. This interaction is modeled on demonstrated interaction between human hamartin and mouse 14-3-3-beta isoform.BIND12176984 
YWHAE14-3-3E | FLJ45465 | KCIP-1 | MDCR | MDStyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptideHamartin interacts with 14-3-3-epsilon.BIND12176984 
YWHAG14-3-3GAMMAtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptideHamartin interacts with 14-3-3-gamma. This interaction is modeled on demonstrated interaction between human hamartin and mouse 14-3-3-gamma isoform.BIND12176984 
YWHAHYWHA1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptideHamartin interacts with 14-3-3-eta. This interaction is modeled on demonstrated interaction between human hamartin and mouse 14-3-3-eta isoform.BIND12176984 
YWHAQ14-3-3 | 1C5 | HS1tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptideHamartin interacts with 14-3-3-tau. This interaction is modeled on demonstrated interaction between human hamartin and mouse 14-3-3-tau isoform.BIND12176984 
YWHAZKCIP-1 | MGC111427 | MGC126532 | MGC138156tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide-HPRD,BioGRID12176984 
 
miRNA Targets ?
miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
let-7/98720726m8hsa-let-7abrainUGAGGUAGUAGGUUGUAUAGUU
hsa-let-7bbrainUGAGGUAGUAGGUUGUGUGGUU
hsa-let-7cbrainUGAGGUAGUAGGUUGUAUGGUU
hsa-let-7dbrainAGAGGUAGUAGGUUGCAUAGU
hsa-let-7ebrainUGAGGUAGGAGGUUGUAUAGU
hsa-let-7fbrainUGAGGUAGUAGAUUGUAUAGUU
hsa-miR-98brainUGAGGUAGUAAGUUGUAUUGUU
hsa-let-7gSZUGAGGUAGUAGUUUGUACAGU
hsa-let-7ibrainUGAGGUAGUAGUUUGUGCUGU
miR-128485248581Ahsa-miR-128aUCACAGUGAACCGGUCUCUUUU
hsa-miR-128bUCACAGUGAACCGGUCUCUUUC
miR-130/30148794885m8hsa-miR-130abrainCAGUGCAAUGUUAAAAGGGCAU
hsa-miR-301CAGUGCAAUAGUAUUGUCAAAGC
hsa-miR-130bbrainCAGUGCAAUGAUGAAAGGGCAU
hsa-miR-454-3pUAGUGCAAUAUUGCUUAUAGGGUUU
miR-141/200a16231A,m8hsa-miR-141UAACACUGUCUGGUAAAGAUGG
hsa-miR-200aUAACACUGUCUGGUAACGAUGU
miR-183473247381Ahsa-miR-183UAUGGCACUGGUAGAAUUCACUG
miR-1948784884m8hsa-miR-19aUGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19bUGUGCAAAUCCAUGCAAAACUGA
hsa-miR-19aUGUGCAAAUCUAUGCAAAACUGA
hsa-miR-19bUGUGCAAAUCCAUGCAAAACUGA
miR-25/32/92/363/3673203271A,m8hsa-miR-25brainCAUUGCACUUGUCUCGGUCUGA
hsa-miR-32UAUUGCACAUUACUAAGUUGC
hsa-miR-92UAUUGCACUUGUCCCGGCCUG
hsa-miR-367AAUUGCACUUUAGCAAUGGUGA
hsa-miR-92bSZUAUUGCACUCGUCCCGGCCUC
miR-27485248591A,m8hsa-miR-27abrainUUCACAGUGGCUAAGUUCCGC
hsa-miR-27bbrainUUCACAGUGGCUAAGUUCUGC
miR-320214621531A,m8hsa-miR-320AAAAGCUGGGUUGAGAGGGCGAA
hsa-miR-320AAAAGCUGGGUUGAGAGGGCGAA
hsa-miR-320AAAAGCUGGGUUGAGAGGGCGAA
miR-375485748631Ahsa-miR-375UUUGUUCGUUCGGCUCGCGUGA
miR-37753591Ahsa-miR-377AUCACACAAAGGCAACUUUUGU
miR-421327333m8hsa-miR-421GGCCUCAUUAAAUGUUUGUUG
miR-54348154821m8hsa-miR-543AAACAUUCGCGGUGCACUUCU
  • SZ: miRNAs which differentially expressed in brain cortex of schizophrenia patients comparing with control samples using microarray. Click here to see the list of SZ related miRNAs.
  • Brain: miRNAs which are expressed in brain based on miRNA microarray expression studies. Click here to see the list of brain related miRNAs.


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