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TSC1 tuberous sclerosis 1 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000368 Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001162426 Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
NM_001162427 Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_005272211 PREDICTED: Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006717271 PREDICTED: Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $1699.00 25
XM_006717272 PREDICTED: Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $849.00 20

*Business Day

Related Services

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?

What is the normal function of the TSC1 gene?

The TSC1 gene provides instructions for producing a protein called hamartin, whose function is not fully understood. Within cells, hamartin interacts with a protein called tuberin, which is produced from the TSC2 gene. These two proteins help control cell growth and size. Proteins that normally prevent cells from growing and dividing too fast or in an uncontrolled way are known as tumor suppressors. Hamartin and tuberin carry out their tumor suppressor function by interacting with and regulating a wide variety of other proteins.

Interactant

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