AutismKB 2.0

Annotation Details for TSC1


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Basic Information Top
Gene Symbol:TSC1 ( KIAA0243,LAM,MGC86987,TSC )
Gene Full Name: tuberous sclerosis 1
Band: 9q34
Quick LinksEntrez ID:7248; OMIM: 605284; Uniprot ID:TSC1_HUMAN; ENSEMBL ID: ENSG00000165699; HGNC ID: 12362
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634ISS-nucleus-
GO:0005737IDA-cytoplasm9580671
GO:0005811IDA-lipid particle-
GO:0005829IDA-cytosol10585443
GO:0005829TAS-cytosol-
GO:0005884IDAcolocalizes_withactin filament10806479
GO:0005886TAS-plasma membrane-
GO:0005938IDA-cell cortex10806479
GO:0016020IDA-membrane16636147
GO:0030027IDA-lamellipodium10806479
GO:0030426IEA-growth cone-
GO:0033596IDA-TSC1-TSC2 complex9580671
GO:0043234IDA-protein complex10585443
GO:0048471ISS-perinuclear region of cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding9580671
GO:0032794IEA-GTPase activating protein binding-
GO:0047485IPI-protein N-terminus binding10806479
GO:0051087IPI-chaperone binding10585443
GO ID Evidence Qualifier GO_term References
GO:0001822IEA-kidney development-
GO:0001843IEA-neural tube closure-
GO:0001952IMP-regulation of cell-matrix adhesion10806479
GO:0002250IEA-adaptive immune response-
GO:0006407IMP-rRNA export from nucleus17308101
GO:0006417IDA-regulation of translation17308101
GO:0006813IEA-potassium ion transport-
GO:0007050TAS-cell cycle arrest-
GO:0007160IMP-cell-matrix adhesion10806479
GO:0008285IMP-negative regulation of cell proliferation10915759
GO:0008344ISS-adult locomotory behavior-
GO:0010977IEA-negative regulation of neuron projection development-
GO:0016239IEA-positive regulation of macroautophagy-
GO:0016242ISS-negative regulation of macroautophagy-
GO:0017148IMP-negative regulation of translation17308101
GO:0021766IEA-hippocampus development-
GO:0021987IEA-cerebral cortex development-
GO:0030030IEA-cell projection organization-
GO:0032007IMP-negative regulation of TOR signaling17308101
GO:0032007ISS-negative regulation of TOR signaling-
GO:0032868IDA-response to insulin16996505
GO:0034260IEA-negative regulation of GTPase activity-
GO:0042552IEA-myelination-
GO:0043379IEA-memory T cell differentiation-
GO:0043666IMP-regulation of phosphoprotein phosphatase activity17308101
GO:0045792IEA-negative regulation of cell size-
GO:0045859IEA-regulation of protein kinase activity-
GO:0046323IEA-glucose import-
GO:0046627IBA-negative regulation of insulin receptor signaling pathway-
GO:0050808IEA-synapse organization-
GO:0050821IDA-protein stabilization11175345
GO:0051291IEA-protein heterooligomerization-
GO:0051492IDA-regulation of stress fiber assembly10806479
GO:0051496IEA-positive regulation of stress fiber assembly-
GO:0051726IBA-regulation of cell cycle-
GO:0051894IDA-positive regulation of focal adhesion assembly10806479
GO:0055007IEA-cardiac muscle cell differentiation-
GO:0061024TAS-membrane organization-
GO:0090630IDA-activation of GTPase activity10806479
GO:0090650ISS-cellular response to oxygen-glucose deprivation-
GO:1901214ISS-regulation of neuron death-
GO:1903204IEA-negative regulation of oxidative stress-induced neuron death-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TSC1ACTA111309910806479 Co-localization
TSC1ACTA110657310806479 Co-localization
TSC1AKT111309912167664 15342917 Affinity Capture-Western
TSC1AKT110671012167664 15342917 Affinity Capture-Western
TSC1CDK111309914551205 Reconstituted Complex
TSC1CDK110742014551205 Reconstituted Complex
TSC1CDKN1B10746115355997 Affinity Capture-Western
TSC1CDKN1B11309915355997 Affinity Capture-Western
TSC1GSK3B11309912511557 Affinity Capture-Western
TSC1GSK3B10918712511557 Affinity Capture-Western
TSC1MSN11309912226091 Two-hybrid
TSC1MSN11058412226091 Two-hybrid
TSC1NEFL11309912226091 Affinity Capture-Western; Two-hybrid
TSC1NEFL11082212226091 Affinity Capture-Western; Two-hybrid
TSC1PAM11110114559897 Co-localization
TSC1PAM11309914559897 Co-localization
TSC1PLK111309916339216 Affinity Capture-Western
TSC1PLK111136216339216 Affinity Capture-Western
TSC1PTK211171917043358 Affinity Capture-Western
TSC1PTK211309917043358 Affinity Capture-Western
TSC1RHEB11309912820960 Biochemical Activity
TSC1RHEB11194112820960 Biochemical Activity
TSC1RPS6KA111309915342917 Affinity Capture-Western
TSC1RPS6KA111210915342917 Affinity Capture-Western
TSC2TSC11131009580671 10807585 10915759 11175345 11290735 11741832 11741833 12167664 12176984 12511557 14551205 14651849 15340059 15851026 15963462 16339216 16424383 16636147 17077083 17658474 Affinity Capture-MS; Affinity Capture-Western; Co-localization; Two-hybrid
TSC2TSC11130999580671 10807585 10915759 11175345 11290735 11741832 11741833 12167664 12176984 12511557 14551205 14651849 15340059 15851026 15963462 16339216 16424383 16636147 17077083 17658474 Affinity Capture-MS; Affinity Capture-Western; Co-localization; Two-hybrid
TSC1TSC111309910585443 Two-hybrid
EZRTSC111309910806479 Affinity Capture-Western
EZRTSC111327110806479 Affinity Capture-Western
YWHABTSC111309912176984 Affinity Capture-Western
YWHABTSC111336112176984 Affinity Capture-Western
YWHAZTSC111336612176984 Two-hybrid
YWHAZTSC111309912176984 Two-hybrid
AXIN1TSC111309912511557 Affinity Capture-Western
AXIN1TSC111390912511557 Affinity Capture-Western
DOCK7TSC111309915963462 Affinity Capture-MS
DOCK7TSC112452715963462 Affinity Capture-MS
UBCTSC111309917658474 Affinity Capture-Western
UBCTSC111316417658474 Affinity Capture-Western
TBC1D7TSC111309917658474 Affinity Capture-Western; Reconstituted Complex
TBC1D7TSC111941217658474 Affinity Capture-Western; Reconstituted Complex
FBXW5TSC111309918381890 Affinity Capture-Western
FBXW5TSC111996718381890 Affinity Capture-Western
BECN1TSC111422620562859 Affinity Capture-MS
BECN1TSC111309920562859 Affinity Capture-MS
Gene Symbol Interactant Interaction ID References Description
TSC1MSN2485410806479 Hamartin interacts with moesin. This interaction was modeled on a demonstrated interaction between murine hamartin and human moesin.
TSC1RDX2485310806479 Hamartin interacts with radixin. This interaction was modeled on a demonstrated interaction between murine hamartin and human radixin.
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1929183
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030131-3404'