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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

*Business Day

Related Services

Gene Symbol TSC1
Entrez Gene ID 7248
Full Name tuberous sclerosis 1
Synonyms KIAA0243, LAM, MGC86987, TSC
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
KEGG
hsa04910Insulin signaling pathway
hsa04151PI3K-Akt signaling pathway
hsa04150mTOR signaling pathway
WikiPathways
WP2261Signaling Pathways in Glioblastoma
WP1471TOR signaling
WP1403AMPK signaling
WP1984Integrated Breast Cancer Pathway
WP481Insulin Signaling
Pathway Interaction Database
mtor_4pathwaymTOR signaling pathway
lkb1_pathwayLKB1 signaling events
Reactome
REACT_976PI3K Cascade
REACT_1195Insulin receptor signalling cascade
REACT_6838mTOR signalling
REACT_21393Regulation of Rheb GTPase activity by AMPK
REACT_498Signaling by Insulin receptor
REACT_332IRS-mediated signalling
REACT_456PKB-mediated events
REACT_6743Inhibition of TSC complex formation by PKB
REACT_762IRS-related events
REACT_21387Energy dependent regulation of mTOR by LKB1-AMPK
REACT_111102Signal Transduction
Homo sapiens (human)TSC1NP_000359.1
Pan troglodytes (chimpanzee)TSC1XP_001168992.1
Macaca mulatta (Rhesus monkey)TSC1XP_001103846.2
Canis lupus familiaris (dog)TSC1XP_537808.3
Bos taurus (cattle)TSC1XP_003586729.1
Mus musculus (house mouse)Tsc1NP_075025.2
Rattus norvegicus (Norway rat)Tsc1NP_068626.1
Gallus gallus (chicken)TSC1XP_415449.2
Danio rerio (zebrafish)tsc1XP_003200907.1
Drosophila melanogaster (fruit fly)Tsc1NP_477415.1
GeneCards TSC1
UniProt Q86WV8, Q32NF0, Q92574
MIM 605284
Ensembl ENSG00000165699
HGNC 12362
HPRD 05594

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

General protein information

Preferred Names
hamartin
Names
hamartin
tumor suppressor
tuberous sclerosis 1 protein

Interactant



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