C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: tuberous sclerosis 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000165699 TSC1 9606 - 9:132891348-132944633 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000298552 TSC1-001 132891348-132944621 protein_coding
  ENST00000403810 TSC1-003 132911209-132944633 protein_coding
  ENST00000440111 TSC1-201 132891350-132928955 protein_coding
  ENST00000461879 TSC1-004 132921819-132923684 processed_transcript
  ENST00000475903 TSC1-005 132921819-132944619 processed_transcript
  ENST00000490179 TSC1-002 132925587-132944621 processed_transcript
  ENST00000493467 TSC1-006 132909811-132944595 retained_intron
  ENST00000545250 TSC1-202 132891350-132928955 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000298552ENST00000440111ENST00000493467ENST00000545250
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000298552 2.435±0.00 N/A 1.852±0.00 2.482±0.26 1.948±0.75 1.134±0.05 2.575±0.00 N/A 0.890±0.00 2.285±0.00 1.467±1.00 1.563±1.54 3.046±0.00 4.298±0.31
ENST00000440111 N/A N/A N/A 0.734±0.00 N/A 0.821±0.00 6.590±0.00 1.367±0.00 0.177±0.00 1.040±0.00 0.722±0.00 0.720±0.00 1.582±0.09 2.160±0.00
ENST00000493467 N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.979±0.00 N/A N/A 2.077±0.16 N/A
ENST00000545250 N/A 4.754±0.00 N/A N/A 1.315±0.32 1.749±0.00 N/A 3.084±0.00 N/A 1.466±0.00 2.722±0.00 2.601±1.54 N/A 6.398±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001822 IEA kidney development
GO:0001843 IEA neural tube closure
GO:0001952 IMP regulation of cell-matrix adhesion
GO:0005488 IEA binding
GO:0005515 IPI protein binding
GO:0005737 IDA cytoplasm
GO:0005829 IDA cytosol
GO:0005856 IEA cytoskeleton
GO:0005884 IDA actin filament
GO:0005938 IDA cell cortex
GO:0006407 IMP rRNA export from nucleus
GO:0006417 IDA regulation of translation
GO:0006813 IEA potassium ion transport
GO:0007050 TAS cell cycle arrest
GO:0007160 IMP cell-matrix adhesion
GO:0007399 IEA nervous system development
GO:0008285 IMP negative regulation of cell proliferation
GO:0008286 TAS insulin receptor signaling pathway
GO:0016020 IDA membrane
GO:0017148 IMP negative regulation of translation
GO:0021766 IEA hippocampus development
GO:0021987 IEA cerebral cortex development
GO:0030027 IDA lamellipodium
GO:0030030 IEA cell projection organization
GO:0030426 IEA growth cone
GO:0030695 IBA GTPase regulator activity
GO:0032007 IMP negative regulation of TOR signaling
GO:0032794 IEA GTPase activating protein binding
GO:0032862 IDA activation of Rho GTPase activity
GO:0032868 IDA response to insulin
GO:0032956 IEA regulation of actin cytoskeleton organization
GO:0033596 IDA TSC1-TSC2 complex
GO:0042552 IEA myelination
GO:0043231 IEA intracellular membrane-bounded organelle
GO:0043234 IDA protein complex
GO:0043666 IMP regulation of phosphoprotein phosphatase activity
GO:0045792 IEA negative regulation of cell size
GO:0045859 IEA regulation of protein kinase activity
GO:0046323 IEA glucose import
GO:0046627 IBA negative regulation of insulin receptor signaling pathway
GO:0047485 IPI protein N-terminus binding
GO:0050808 IEA synapse organization
GO:0050821 IDA protein stabilization
GO:0051087 IPI chaperone binding
GO:0051291 IEA protein heterooligomerization
GO:0051492 IDA regulation of stress fiber assembly
GO:0051726 IBA regulation of cell cycle
GO:0051893 IEA regulation of focal adhesion assembly
GO:0051894 IDA positive regulation of focal adhesion assembly
GO:0055007 IEA cardiac muscle cell differentiation

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000026048 tsc1a tuberous sclerosis 1a protein_coding Danio_rerio
ENSDARG00000057918 tsc1b tuberous sclerosis 1b protein_coding Danio_rerio
ENSMUSG00000026812 Tsc1 tuberous sclerosis 1 protein_coding Mus_musculus

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