AutismKB


Deprecated: mysql_connect(): The mysql extension is deprecated and will be removed in the future: use mysqli or PDO instead in /rd1/www/autismkb_www/mysql_connect.php on line 14

Annotation Detail for TSC1


View Evidences View Annotations
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
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005624IDA-membrane fraction16636147
GO:0005737IDA-cytoplasm9580671
GO:0005792IEA-microsome-
GO:0005829EXP-cytosol14651849
GO:0005829IDA-cytosol10585443
GO:0005829TAS-cytosol-
GO:0005884IDAcolocalizes_withactin filament10806479
GO:0005938IDA-cell cortex10806479
GO:0016020IEA-membrane-
GO:0030027IDA-lamellipodium10806479
GO:0030426IEA-growth cone-
GO:0033596IDA-TSC1-TSC2 complex9580671
GO:0043234IDA-protein complex10585443
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding17693255
GO:0030695IEA-GTPase regulator activity-
GO:0032794IEA-GTPase activating protein binding-
GO:0047485IPI-protein N-terminus binding12226091
GO:0051087IPI-chaperone binding10585443
GO ID Evidence Qualifier GO_term References
GO:0001952IMP-regulation of cell-matrix adhesion10806479
GO:0006407IMP-rRNA export from nucleus17308101
GO:0006417IDA-regulation of translation17308101
GO:0007050TAS-cell cycle arrest-
GO:0007160IMP-cell-matrix adhesion10806479
GO:0008285IMP-negative regulation of cell proliferation10915759
GO:0008286TAS-insulin receptor signaling pathway-
GO:0017148IMP-negative regulation of translation17308101
GO:0031397IDA-negative regulation of protein ubiquitination11175345
GO:0032007IMP-negative regulation of TOR signaling cascade17308101
GO:0032862IDA-activation of Rho GTPase activity10806479
GO:0032868IDA-response to insulin stimulus16996505
GO:0032956IEA-regulation of actin cytoskeleton organization-
GO:0043666IMP-regulation of phosphoprotein phosphatase activity17308101
GO:0051291IEA-protein heterooligomerization-
GO:0051492IDA-regulation of stress fiber assembly10806479
GO:0051894IDA-positive regulation of focal adhesion assembly10806479
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
Genomic Variants Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1929183
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:2183146Tsc1[tm1Hin]Allele from Mouse Targeted (Reporter)
  • tumorigenesis
  • nervous system phenotype
  • liver/biliary system phenotype
  • homeostasis/metabolism phenotype
  • growth/size phenotype
  • embryogenesis phenotype
  • cardiovascular system phenotype
MGI:2183900Tsc1[tm1.1Djk]Allele from Mouse Targeted (knock-out)
  • tumorigenesis
  • nervous system phenotype
  • liver/biliary system phenotype
  • homeostasis/metabolism phenotype
  • hearing/vestibular/ear phenotype
  • growth/size phenotype
  • embryogenesis phenotype
  • cardiovascular system phenotype
  • behavior/neurological phenotype
  • skeleton phenotype
MGI:2656240Tsc1[tm1Djk]Allele from Mouse Targeted (Floxed/Frt)
  • nervous system phenotype
  • renal/urinary system phenotype
  • muscle phenotype
  • homeostasis/metabolism phenotype
  • hearing/vestibular/ear phenotype
  • growth/size phenotype
  • cardiovascular system phenotype
  • behavior/neurological phenotype
  • respiratory system phenotype
  • skeleton phenotype
MGI:3584174Tsc1[tm1Chdl]Allele from Mouse Targeted (Reporter)
  • tumorigenesis
  • nervous system phenotype
  • renal/urinary system phenotype
  • growth/size phenotype
  • embryogenesis phenotype
  • cardiovascular system phenotype
MGI:4434847Tsc1[tm1e(EUCOMM)Hmgu]Mutant from cell lines30087
-
MGI:4436282Tsc1[tm1a(EUCOMM)Hmgu]Mutant from cell lines30087
-
FB Allele ID FB Allele Symbol Phenotype
FBal0123959Tsc1[unspecified]eye disc & S phase | ectopic | somatic clone
eye disc & mitotic cell cycle | ectopic | somatic clone
eye-antennal disc | somatic clone
increased cell size | recessive | somatic clone
FBal0123961Tsc1[ScerUAS.cTa]fat body
with ScerGAL4[Act5C.PP]
FBal0123963Tsc1[ScerUAS.cGa]long lived
with ScerGAL4[da.G32]
wild-type
with ScerGAL4[Bx-MS1096]
FBal0123964Tsc1[R453X]eye | somatic clone
hyperplasia | somatic clone
FBal0123965Tsc1[Q87X]GO0016028:rhabdomere | cell autonomous | somatic clone
developmental rate defective
eye photoreceptor cell | somatic clone
eye photoreceptor cell | somatic clone | supernumerary
eye | somatic clone
head capsule | somatic clone
imaginal disc | somatic clone
increased cell size | recessive | somatic clone
increased cell size | somatic clone
interommatidial bristle | somatic clone
lethal | conditional qualifier | pupal stage
lethal | larval stage
lethal | larval stage (with Tsc1[2G3])
ommatidium | cell autonomous | somatic clone
ommatidium | somatic clone
visible | recessive | somatic clone
visible | somatic clone
FBal0123966Tsc1[Q600X]GO0016028:rhabdomere | somatic clone
adult head | somatic clone
eye disc & S phase | somatic clone
eye disc & mitotic cell cycle | somatic clone
eye disc | somatic clone
eye | somatic clone
increased cell number | somatic clone
increased cell size | recessive | somatic clone
interommatidial bristle | somatic clone
interommatidial bristle | somatic clone | supernumerary
lethal | larval stage (with Df(3R)crb-F89-4)
lethal | larval stage | recessive
melanotic mass | somatic clone
ommatidium | cell autonomous | somatic clone
visible | recessive | somatic clone
visible | somatic clone
wing disc | somatic clone
wing margin bristle | somatic clone
FBal0123968Tsc1[29]GO0016028:rhabdomere
GO0016028:rhabdomere | cell autonomous | somatic clone
eye photoreceptor cell | cell autonomous | somatic clone
increased cell number | cell autonomous | somatic clone
increased cell size | cell autonomous | somatic clone
increased cell size | somatic clone
lethal | larval stage
lethal | larval stage | recessive
mitotic cell cycle defective | somatic clone
ommatidium | cell autonomous | somatic clone
wing margin bristle | somatic clone
FBal0159591Tsc1[2X1]lethal | larval stage (with Tsc1[1A2])
FBal0159592Tsc1[2G3]lethal | larval stage (with Tsc1[Q87X])
FBal0159593Tsc1[1A2]lethal | larval stage (with Tsc1[2X1])

Quick Search:


  (e.g. NLGN4X)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
  • Click to Download Data

Registered with NIF