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TSC1 tuberous sclerosis 1 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu17591 NM_001162427 Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 4, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu17622 NM_001162426 Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu18443 NM_000368 Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu18443 XM_005272211 PREDICTED: Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant X1, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu18443 XM_006717271 PREDICTED: Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant X2, mRNA. pcDNA3.1+-DYK On-demand 25 $1699.00
OHu43494 XM_006717272 PREDICTED: Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant X3, mRNA. pcDNA3.1+-DYK On-demand 12-14 $279.00
OHu17591C NM_001162427 Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 4, mRNA. Customized vector On-demand 25 $1699.00
OHu17622C NM_001162426 Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 3, mRNA. Customized vector On-demand 25 $1699.00
OHu18443C NM_000368 Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA. Customized vector On-demand 25 $1699.00
OHu18443C XM_005272211 PREDICTED: Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant X1, mRNA. Customized vector On-demand 25 $1699.00
OHu18443C XM_006717271 PREDICTED: Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant X2, mRNA. Customized vector On-demand 25 $1699.00
OHu43494C XM_006717272 PREDICTED: Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant X3, mRNA. Customized vector On-demand 12-14 $329.00

*Business Day

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Gene Symbol TSC1
Entrez Gene ID 7248
Full Name tuberous sclerosis 1
Synonyms LAM, TSC
General protein information
Preferred Names
hamartin
Names
hamartin
tumor suppressor
tuberous sclerosis 1 protein
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q34

Summary This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009].
Disorder

MIM: 605284

Tuberous sclerosis-1, 191100 (3); Lymphangioleiomyomatosis, 606690

mRNA Protein Product Sequence Price Select
NM_000368, 241666460 NP_000359, 4507693 hamartin isoform 1 ORF Sequence $1500.00
NM_001162426, 241666461 NP_001155898, 241666462 hamartin isoform 3 ORF Sequence $1500.00
NM_001162427, 241666463 NP_001155899, 241666464 hamartin isoform 4 ORF Sequence $1500.00
XM_005272211, 530427206 XP_005272268, 530427207 hamartin isoform X1 ORF Sequence $1500.00
XM_006717271, 578817850 XP_006717334, 578817851 hamartin isoform X2 ORF Sequence $1500.00
XM_006717272, 578817852 XP_006717335, 578817853 hamartin isoform X3 ORF Sequence $700.00
KEGG
hsa04150mTOR signaling pathway
hsa04910Insulin signaling pathway
hsa04151PI3K-Akt signaling pathway
hsa04152AMPK signaling pathway
WikiPathways
WP1471TOR signaling
WP1984Integrated Breast Cancer Pathway
WP481Insulin Signaling
WP1403AMPK signaling
WP2261Signaling Pathways in Glioblastoma
WP2263Prostate Cancer
Pathway Interaction Database
lkb1_pathwayLKB1 signaling events
mtor_4pathwaymTOR signaling pathway
Reactome
REACT_976PI3K Cascade
REACT_762IRS-related events
REACT_1195Insulin receptor signalling cascade
REACT_498Signaling by Insulin receptor
REACT_332IRS-mediated signalling
REACT_456PKB-mediated events
REACT_6838mTOR signalling
REACT_6743Inhibition of TSC complex formation by PKB
REACT_21387Energy dependent regulation of mTOR by LKB1-AMPK
REACT_21393Regulation of Rheb GTPase activity by AMPK
REACT_111102Signal Transduction
REACT_150359Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
REACT_150203IRS-related events triggered by IGF1R
REACT_150210IGF1R signaling cascade
Homo sapiens (human)TSC1NP_000359.1
Pan troglodytes (chimpanzee)TSC1XP_001168992.1
Macaca mulatta (Rhesus monkey)TSC1XP_001103846.2
Canis lupus familiaris (dog)TSC1XP_005625233.1
Bos taurus (cattle)TSC1XP_005213508.1
Mus musculus (house mouse)Tsc1NP_075025.2
Rattus norvegicus (Norway rat)Tsc1NP_068626.1
Gallus gallus (chicken)TSC1XP_415449.2
Danio rerio (zebrafish)tsc1aNP_956346.1
Xenopus (Silurana) tropicalis (western clawed frog)tsc1XP_002944681.2
Process
IDNameEvidence
GO:0001822kidney developmentIEA
GO:0001843neural tube closureIEA
GO:0001952regulation of cell-matrix adhesionIMP
GO:0006407rRNA export from nucleusIMP
GO:0006417regulation of translationIDA
GO:0006813potassium ion transportIEA
GO:0007050cell cycle arrestTAS
GO:0007160cell-matrix adhesionIMP
GO:0008285negative regulation of cell proliferationIMP
GO:0008286insulin receptor signaling pathwayTAS
GO:0017148negative regulation of translationIMP
GO:0021766hippocampus developmentIEA
GO:0021987cerebral cortex developmentIEA
GO:0030030cell projection organizationIEA
GO:0032007negative regulation of TOR signalingIMP
GO:0032862activation of Rho GTPase activityIDA
GO:0032868response to insulinIDA
GO:0042552myelinationIEA
GO:0043666regulation of phosphoprotein phosphatase activityIMP
GO:0045792negative regulation of cell sizeIEA
GO:0045859regulation of protein kinase activityIEA
GO:0046627negative regulation of insulin receptor signaling pathwayIBA
GO:0050808synapse organizationIEA
GO:0050821protein stabilizationIDA
GO:0051291protein heterooligomerizationIEA
GO:0051492regulation of stress fiber assemblyIDA
GO:0051726regulation of cell cycleIBA
GO:0051894positive regulation of focal adhesion assemblyIDA
GO:0055007cardiac muscle cell differentiationIEA
Component
IDNameEvidence
GO:0005737cytoplasmIDA
GO:0005829cytosolIDA
GO:0005829cytosolTAS
GO:0005884actin filamentIDA
GO:0005938cell cortexIDA
GO:0016020membraneIDA
GO:0030027lamellipodiumIDA
GO:0030426growth coneIEA
GO:0033596TSC1-TSC2 complexIDA
GO:0043231intracellular membrane-bounded organelleIEA
GO:0043234protein complexIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0030695GTPase regulator activityIBA
GO:0032794GTPase activating protein bindingIEA
GO:0047485protein N-terminus bindingIPI
GO:0051087chaperone bindingIPI
GeneCards TSC1
UniProt Q86WV8, Q32NF0, X5D9D2, Q92574
Vega OTTHUMG00000020844
MIM 605284
Ensembl ENSG00000165699
HGNC 12362
HPRD 05594

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Interactant

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