Human Gene TSC1 (ENST00000298552.9_12) from GENCODE V47lift37
  Description: TSC complex subunit 1 (from HGNC TSC1)
Gencode Transcript: ENST00000298552.9_12
Gencode Gene: ENSG00000165699.16_21
Transcript (Including UTRs)
   Position: hg19 chr9:135,766,736-135,820,003 Size: 53,268 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr9:135,771,622-135,804,259 Size: 32,638 Coding Exon Count: 21 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:135,766,736-135,820,003)mRNA (may differ from genome)Protein (1164 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
Human Cortex Gene ExpressionMalacardsMGIPubMedUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TSC1
Diseases sorted by gene-association score: tuberous sclerosis-1* (1714), focal cortical dysplasia, type ii, somatic* (937), lymphangioleiomyomatosis* (924), tuberous sclerosis* (352), congenital heart defects, hamartomas of tongue, and polysyndactyly* (298), arthrogryposis, renal dysfunction, and cholestasis 1* (283), urinary bladder cancer* (235), tsc2 angiomyolipomas, renal, modifier of* (231), bladder cancer, somatic* (183), visual epilepsy* (111), tsc1-related lymphangioleiomyomatosis* (100), seizure disorder* (97), angiomyolipoma (25), lung disease (21), kidney angiomyolipoma (19), subependymal giant cell astrocytoma (14), peutz-jeghers syndrome (13), subependymal glioma (10), corneal fleck dystrophy (9), multilocular clear cell renal cell carcinoma (9), autosomal dominant polycystic kidney disease (9), pneumothorax (8), benign ependymoma (8), epileptic encephalopathy, childhood-onset (7), ganglioglioma (6), lissencephaly with cerebellar hypoplasia (6), kidney benign neoplasm (5), stromal dystrophy (5), polycystic liver disease 1 (5), aortic disease (4), megalencephaly (4), cowden disease (4), kidney cancer (3), renal cell carcinoma (2), focal epilepsy (2), autism spectrum disorder (2), autistic disorder (2), retinitis pigmentosa (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.10 RPKM in Brain - Cerebellum
Total median expression: 474.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -67.90217-0.313 Picture PostScript Text
3' UTR -1574.704886-0.322 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Descriptions from all associated GenBank mRNAs
  AF013168 - Homo sapiens hamartin (TSC1) mRNA, complete cds.
AK299654 - Homo sapiens cDNA FLJ50639 complete cds, highly similar to Hamartin.
AK303030 - Homo sapiens cDNA FLJ50429 complete cds, highly similar to Hamartin.
BC167824 - Synthetic construct Homo sapiens clone IMAGE:100068214, MGC:195831 tuberous sclerosis 1 (TSC1) mRNA, encodes complete protein.
KJ534953 - Homo sapiens clone TSC1_iso-A_fetal-F11 tuberous sclerosis 1 isoform A (TSC1) mRNA, partial cds, alternatively spliced.
AK308412 - Homo sapiens cDNA, FLJ98360.
KM516092 - Homo sapiens TSC1-PDGFEB fusion protein (TSC1-PDGFRB fusion) mRNA, partial cds.
LC224281 - Homo sapiens TSC1 mRNA for hamartin, complete cds, isolate: TSC1-2.
BC108668 - Homo sapiens tuberous sclerosis 1, mRNA (cDNA clone IMAGE:6173298), partial cds.
AK297326 - Homo sapiens cDNA FLJ50416 complete cds, highly similar to Hamartin.
AB190910 - Homo sapiens TSC1 mRNA for tumor suppressor, complete cds.
BC070032 - Homo sapiens tuberous sclerosis 1, mRNA (cDNA clone IMAGE:5273541), complete cds.
BC047772 - Homo sapiens tuberous sclerosis 1, mRNA (cDNA clone IMAGE:5785462), complete cds.
BC121000 - Homo sapiens tuberous sclerosis 1, mRNA (cDNA clone IMAGE:40116542), complete cds.
HQ257966 - Synthetic construct Homo sapiens clone IMAGE:100072275 Unknown protein gene, encodes complete protein.
KJ904579 - Synthetic construct Homo sapiens clone ccsbBroadEn_13973 TSC1 gene, encodes complete protein.
D87683 - Homo sapiens mRNA for KIAA0243 gene, partial cds.
JD314482 - Sequence 295506 from Patent EP1572962.
JD515624 - Sequence 496648 from Patent EP1572962.
JD534705 - Sequence 515729 from Patent EP1572962.
JD380203 - Sequence 361227 from Patent EP1572962.
JD510618 - Sequence 491642 from Patent EP1572962.
JD472042 - Sequence 453066 from Patent EP1572962.
JD089879 - Sequence 70903 from Patent EP1572962.
JD297288 - Sequence 278312 from Patent EP1572962.
JD044585 - Sequence 25609 from Patent EP1572962.
JD499131 - Sequence 480155 from Patent EP1572962.
JD530002 - Sequence 511026 from Patent EP1572962.
JD375143 - Sequence 356167 from Patent EP1572962.
JD223103 - Sequence 204127 from Patent EP1572962.
JD079761 - Sequence 60785 from Patent EP1572962.
JD299510 - Sequence 280534 from Patent EP1572962.
JD532040 - Sequence 513064 from Patent EP1572962.
JD068526 - Sequence 49550 from Patent EP1572962.
JD515765 - Sequence 496789 from Patent EP1572962.
JD431322 - Sequence 412346 from Patent EP1572962.
JD280741 - Sequence 261765 from Patent EP1572962.
JD305633 - Sequence 286657 from Patent EP1572962.
JD286122 - Sequence 267146 from Patent EP1572962.
JD299426 - Sequence 280450 from Patent EP1572962.
JD155638 - Sequence 136662 from Patent EP1572962.
JD082375 - Sequence 63399 from Patent EP1572962.
JD133782 - Sequence 114806 from Patent EP1572962.
JD150304 - Sequence 131328 from Patent EP1572962.
JD297990 - Sequence 279014 from Patent EP1572962.
JD133599 - Sequence 114623 from Patent EP1572962.
JD130616 - Sequence 111640 from Patent EP1572962.
JD104975 - Sequence 85999 from Patent EP1572962.
JD223633 - Sequence 204657 from Patent EP1572962.
JD220733 - Sequence 201757 from Patent EP1572962.
JD291072 - Sequence 272096 from Patent EP1572962.
JD160968 - Sequence 141992 from Patent EP1572962.
JD328795 - Sequence 309819 from Patent EP1572962.
JD427321 - Sequence 408345 from Patent EP1572962.
JD427600 - Sequence 408624 from Patent EP1572962.
JD312312 - Sequence 293336 from Patent EP1572962.
JD171929 - Sequence 152953 from Patent EP1572962.
JD369108 - Sequence 350132 from Patent EP1572962.
JD552267 - Sequence 533291 from Patent EP1572962.
JD525269 - Sequence 506293 from Patent EP1572962.
JD110917 - Sequence 91941 from Patent EP1572962.
JD312416 - Sequence 293440 from Patent EP1572962.
JD059789 - Sequence 40813 from Patent EP1572962.
JD520154 - Sequence 501178 from Patent EP1572962.
JD435629 - Sequence 416653 from Patent EP1572962.
JD205145 - Sequence 186169 from Patent EP1572962.
JD214628 - Sequence 195652 from Patent EP1572962.
JD549942 - Sequence 530966 from Patent EP1572962.
JD495375 - Sequence 476399 from Patent EP1572962.
JD548902 - Sequence 529926 from Patent EP1572962.
JD092999 - Sequence 74023 from Patent EP1572962.
JD245005 - Sequence 226029 from Patent EP1572962.
JD147337 - Sequence 128361 from Patent EP1572962.
JD093634 - Sequence 74658 from Patent EP1572962.
JD279904 - Sequence 260928 from Patent EP1572962.
JD295959 - Sequence 276983 from Patent EP1572962.
JD551600 - Sequence 532624 from Patent EP1572962.
JD402298 - Sequence 383322 from Patent EP1572962.
JD307576 - Sequence 288600 from Patent EP1572962.
JD102507 - Sequence 83531 from Patent EP1572962.
JD265341 - Sequence 246365 from Patent EP1572962.
JD559976 - Sequence 541000 from Patent EP1572962.
JD260463 - Sequence 241487 from Patent EP1572962.
JD373731 - Sequence 354755 from Patent EP1572962.
JD297962 - Sequence 278986 from Patent EP1572962.
LP986446 - Sequence 84 from Patent EP3201339.
MA014106 - JP 2017536338-A/84: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
LP986444 - Sequence 82 from Patent EP3201339.
MA014104 - JP 2017536338-A/82: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
LP986442 - Sequence 80 from Patent EP3201339.
MA014102 - JP 2017536338-A/80: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
LC224280 - Homo sapiens TSC1 mRNA for hamartin, complete cds, isolate: TSC1-1.
LP986441 - Sequence 79 from Patent EP3201339.
MA014101 - JP 2017536338-A/79: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
LP986439 - Sequence 77 from Patent EP3201339.
MA014099 - JP 2017536338-A/77: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
JD462606 - Sequence 443630 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_mTORPathway - mTOR Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000298552.1, ENST00000298552.2, ENST00000298552.3, ENST00000298552.4, ENST00000298552.5, ENST00000298552.6, ENST00000298552.7, ENST00000298552.8, NR_176218, TSC1 , uc317mfa.1, uc317mfa.2, X5D9D2, X5D9D2_HUMAN
UCSC ID: ENST00000298552.9_12
RefSeq Accession: NM_000368.5

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TSC1:
tuberous-sclerosis (Tuberous Sclerosis Complex)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.