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Guidelines

MIRAGE

TSC complex subunit 1

Summary

Gene Symbol

TSC1

Organism

Homo sapiens (human)

External Links

NCBI Gene

7248

PubChem

7248

Alliance of Genome Resources

HGNC:12362

JoGo

TSC1

TogoVar

TSC1

Annotation

Keyword

3D-structure
Alternative splicing
Chaperone
Coiled coil
Cytoplasm
Disease variant
Epilepsy
Isopeptide bond
Lysosome
Membrane
Phosphoprotein
Proteomics identification
Reference proteome
Tumor suppressor
Ubl conjugation

Proteins

Displaying **all 10** entries
UniProt	Protein Name
A0A2R8Y5S3
Q86WV8
Q92574	Tuberous sclerosis 1 protein
A0A2R8Y5N2
Q32NF0
A0A2R8Y6S1
A0A2R8YD74
A0A2R8YFV7
A0A2R8Y5M3
X5D9D2

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 37 in total

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GO Term	Evidence Code	PMID
kidney development	IEA
neural tube closure	IEA
regulation of cell-matrix adhesion	IMP	10806479
adaptive immune response	IEA
protein folding	IEA

GO Hierarchy

biological process

immune system process [inference]

immune effector process [inference]

cell activation involved in immune response [inference]

leukocyte activation involved in immune response [inference]

lymphocyte activation involved in immune response [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

immune response [inference]

adaptive immune response

leukocyte activation [inference]

leukocyte activation involved in immune response [inference]

lymphocyte activation involved in immune response [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

lymphocyte activation [inference]

lymphocyte activation involved in immune response [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

lymphocyte differentiation [inference]

T cell differentiation [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

T cell activation [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

T cell differentiation [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

immunological memory process [inference]

immunological memory formation process [inference]

memory T cell differentiation

cellular process [inference]

cell activation [inference]

cell activation involved in immune response [inference]

leukocyte activation involved in immune response [inference]

lymphocyte activation involved in immune response [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

leukocyte activation [inference]

leukocyte activation involved in immune response [inference]

lymphocyte activation involved in immune response [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

lymphocyte activation [inference]

lymphocyte activation involved in immune response [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

lymphocyte differentiation [inference]

T cell differentiation [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

T cell activation [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

T cell differentiation [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

protein folding

cell communication [inference]

cellular response to extracellular stimulus [inference]

cellular response to nutrient levels [inference]

cellular response to starvation

cell adhesion [inference]

cell-substrate adhesion [inference]

cell-matrix adhesion

ensheathment of neurons [inference]

axon ensheathment [inference]

myelination

cell population proliferation

cellular developmental process [inference]

cell differentiation [inference]

leukocyte differentiation [inference]

mononuclear cell differentiation [inference]

lymphocyte differentiation [inference]

T cell differentiation [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

cardiocyte differentiation [inference]

cardiac muscle cell differentiation

muscle cell differentiation [inference]

striated muscle cell differentiation [inference]

cardiac muscle cell differentiation

cellular response to stimulus [inference]

cellular response to extracellular stimulus [inference]

cellular response to nutrient levels [inference]

cellular response to starvation

cellular response to stress [inference]

cellular response to starvation

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to decreased oxygen levels

transmembrane transport [inference]

carbohydrate transmembrane transport [inference]

monosaccharide transmembrane transport [inference]

hexose transmembrane transport [inference]

glucose transmembrane transport [inference]

glucose import

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cell projection organization

regulation of cellular component size [inference]

regulation of cell size [inference]

negative regulation of cell size

cell junction organization [inference]

synapse organization

multicellular organismal process [inference]

cell activation [inference]

cell activation involved in immune response [inference]

leukocyte activation involved in immune response [inference]

lymphocyte activation involved in immune response [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

leukocyte activation [inference]

leukocyte activation involved in immune response [inference]

lymphocyte activation involved in immune response [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

lymphocyte activation [inference]

lymphocyte activation involved in immune response [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

lymphocyte differentiation [inference]

T cell differentiation [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

T cell activation [inference]

T cell activation involved in immune response [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

T cell differentiation [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

system process [inference]

nervous system process [inference]

cognition [inference]

learning or memory [inference]

learning [inference]

associative learning

behavior [inference]

learning or memory [inference]

learning [inference]

associative learning

locomotory behavior [inference]

adult locomotory behavior

adult behavior [inference]

adult locomotory behavior

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

tube formation [inference]

tube closure [inference]

neural tube closure

anatomical structure development [inference]

animal organ development [inference]

kidney development

cellular developmental process [inference]

cell differentiation [inference]

leukocyte differentiation [inference]

mononuclear cell differentiation [inference]

lymphocyte differentiation [inference]

T cell differentiation [inference]

T cell differentiation involved in immune response [inference]

memory T cell differentiation

cardiocyte differentiation [inference]

cardiac muscle cell differentiation

muscle cell differentiation [inference]

striated muscle cell differentiation [inference]

cardiac muscle cell differentiation

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

cellular response to starvation

response to starvation [inference]

cellular response to starvation

immune response [inference]

adaptive immune response

response to external stimulus [inference]

response to extracellular stimulus [inference]

response to nutrient levels [inference]

cellular response to nutrient levels [inference]

cellular response to starvation

response to starvation [inference]

cellular response to starvation

cellular response to extracellular stimulus [inference]

cellular response to nutrient levels [inference]

cellular response to starvation

cellular response to external stimulus [inference]

cellular response to extracellular stimulus [inference]

cellular response to nutrient levels [inference]

cellular response to starvation

response to abiotic stimulus [inference]

response to oxygen levels [inference]

response to decreased oxygen levels [inference]

cellular response to decreased oxygen levels

cellular response to oxygen levels [inference]

cellular response to decreased oxygen levels

response to endogenous stimulus [inference]

response to hormone [inference]

response to peptide hormone [inference]

response to insulin

response to chemical [inference]

response to organic substance [inference]

response to hormone [inference]

response to peptide hormone [inference]

response to insulin

response to organonitrogen compound [inference]

response to peptide [inference]

response to peptide hormone [inference]

response to insulin

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to decreased oxygen levels

response to nitrogen compound [inference]

response to organonitrogen compound [inference]

response to peptide [inference]

response to peptide hormone [inference]

response to insulin

response to oxygen-containing compound [inference]

response to peptide [inference]

response to peptide hormone [inference]

response to insulin

cellular response to stimulus [inference]

cellular response to extracellular stimulus [inference]

cellular response to nutrient levels [inference]

cellular response to starvation

cellular response to stress [inference]

cellular response to starvation

cellular response to chemical stimulus [inference]

cellular response to oxygen levels [inference]

cellular response to decreased oxygen levels

localization [inference]

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic cation transport [inference]

metal ion transport [inference]

potassium ion transport

transmembrane transport [inference]

carbohydrate transmembrane transport [inference]

monosaccharide transmembrane transport [inference]

hexose transmembrane transport [inference]

glucose transmembrane transport [inference]

glucose import

organic substance transport [inference]

carbohydrate transport [inference]

carbohydrate transmembrane transport [inference]

monosaccharide transmembrane transport [inference]

hexose transmembrane transport [inference]

glucose transmembrane transport [inference]

glucose import

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

negative regulation of metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of catabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of macroautophagy [inference]

negative regulation of macroautophagy

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of macroautophagy [inference]

negative regulation of macroautophagy

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

regulation of TORC1 signaling [inference]

negative regulation of TORC1 signaling

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cellular component biogenesis [inference]

positive regulation of cell junction assembly [inference]

positive regulation of focal adhesion assembly

positive regulation of cell adhesion [inference]

positive regulation of cell-substrate adhesion [inference]

positive regulation of cell-matrix adhesion [inference]

positive regulation of focal adhesion assembly

positive regulation of cellular component organization [inference]

positive regulation of cell-substrate junction organization [inference]

positive regulation of focal adhesion assembly

positive regulation of cell junction assembly [inference]

positive regulation of focal adhesion assembly

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

negative regulation of cellular process [inference]

negative regulation of cell population proliferation

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

regulation of TORC1 signaling [inference]

negative regulation of TORC1 signaling

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

regulation of intracellular signal transduction [inference]

regulation of TOR signaling [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

regulation of TORC1 signaling [inference]

negative regulation of TORC1 signaling

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

regulation of cell adhesion [inference]

regulation of cell-substrate adhesion [inference]

regulation of cell-matrix adhesion

positive regulation of cell-matrix adhesion [inference]

positive regulation of focal adhesion assembly

regulation of focal adhesion assembly [inference]

positive regulation of focal adhesion assembly

positive regulation of cell-substrate adhesion [inference]

positive regulation of cell-matrix adhesion [inference]

positive regulation of focal adhesion assembly

positive regulation of cell adhesion [inference]

positive regulation of cell-substrate adhesion [inference]

positive regulation of cell-matrix adhesion [inference]

positive regulation of focal adhesion assembly

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of cellular catabolic process [inference]

regulation of autophagy [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of macroautophagy [inference]

negative regulation of macroautophagy

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of actin filament-based process [inference]

regulation of actin cytoskeleton organization [inference]

regulation of actomyosin structure organization [inference]

regulation of stress fiber assembly

regulation of actin filament organization [inference]

regulation of actin filament bundle assembly [inference]

regulation of stress fiber assembly

regulation of cell population proliferation [inference]

negative regulation of cell population proliferation

regulation of cellular component biogenesis [inference]

regulation of actin filament bundle assembly [inference]

regulation of stress fiber assembly

positive regulation of cellular component biogenesis [inference]

positive regulation of cell junction assembly [inference]

positive regulation of focal adhesion assembly

regulation of cell junction assembly [inference]

regulation of cell-substrate junction assembly [inference]

regulation of focal adhesion assembly [inference]

positive regulation of focal adhesion assembly

positive regulation of cell junction assembly [inference]

positive regulation of focal adhesion assembly

positive regulation of cellular process [inference]

positive regulation of cellular component biogenesis [inference]

positive regulation of cell junction assembly [inference]

positive regulation of focal adhesion assembly

positive regulation of cell adhesion [inference]

positive regulation of cell-substrate adhesion [inference]

positive regulation of cell-matrix adhesion [inference]

positive regulation of focal adhesion assembly

positive regulation of cellular component organization [inference]

positive regulation of cell-substrate junction organization [inference]

positive regulation of focal adhesion assembly

positive regulation of cell junction assembly [inference]

positive regulation of focal adhesion assembly

negative regulation of cellular process [inference]

negative regulation of cell population proliferation

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of intracellular signal transduction [inference]

negative regulation of TOR signaling

negative regulation of TORC1 signaling

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of autophagy [inference]

negative regulation of macroautophagy

regulation of cellular component organization [inference]

regulation of organelle organization [inference]

regulation of cytoskeleton organization [inference]

regulation of actin cytoskeleton organization [inference]

regulation of actomyosin structure organization [inference]

regulation of stress fiber assembly

regulation of actin filament organization [inference]

regulation of actin filament bundle assembly [inference]

regulation of stress fiber assembly

positive regulation of cellular component organization [inference]

positive regulation of cell-substrate junction organization [inference]

positive regulation of focal adhesion assembly

positive regulation of cell junction assembly [inference]

positive regulation of focal adhesion assembly

regulation of cell-substrate junction organization [inference]

regulation of cell-substrate junction assembly [inference]

regulation of focal adhesion assembly [inference]

positive regulation of focal adhesion assembly

positive regulation of cell-substrate junction organization [inference]

positive regulation of focal adhesion assembly

regulation of cell junction assembly [inference]

regulation of cell-substrate junction assembly [inference]

regulation of focal adhesion assembly [inference]

positive regulation of focal adhesion assembly

positive regulation of cell junction assembly [inference]

positive regulation of focal adhesion assembly

regulation of supramolecular fiber organization [inference]

regulation of actin filament organization [inference]

regulation of actin filament bundle assembly [inference]

regulation of stress fiber assembly

regulation of cell cycle

regulation of biological quality [inference]

regulation of protein stability [inference]

protein stabilization

regulation of anatomical structure size [inference]

regulation of cellular component size [inference]

regulation of cell size [inference]

negative regulation of cell size

regulation of molecular function [inference]

regulation of ATP-dependent activity [inference]

negative regulation of ATP-dependent activity

negative regulation of molecular function [inference]

negative regulation of ATP-dependent activity

positive regulation of molecular function [inference]

positive regulation of catalytic activity [inference]

positive regulation of hydrolase activity [inference]

positive regulation of GTPase activity [inference]

activation of GTPase activity

regulation of catalytic activity [inference]

positive regulation of catalytic activity [inference]

positive regulation of hydrolase activity [inference]

positive regulation of GTPase activity [inference]

activation of GTPase activity

regulation of hydrolase activity [inference]

regulation of GTPase activity [inference]

positive regulation of GTPase activity [inference]

activation of GTPase activity

positive regulation of hydrolase activity [inference]

positive regulation of GTPase activity [inference]

activation of GTPase activity

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GO Term	Evidence Code	PMID
nucleus	ISS
cytoplasm	IDA	9580671
lysosomal membrane	IDA	24529379
lipid droplet	IDA
cytosol	TAS

GO Hierarchy

cellular component

protein-containing complex

TSC1-TSC2 complex

intracellular protein-containing complex [inference]

protein folding chaperone complex

cellular anatomical entity [inference]

cell cortex

microtubule organizing center [inference]

ciliary basal body

cytosol

plasma membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

vacuolar membrane [inference]

lytic vacuole membrane [inference]

lysosomal membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

lamellipodium

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

lipid droplet

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular non-membrane-bounded organelle [inference]

lipid droplet

postsynaptic specialization [inference]

postsynaptic density

perinuclear region of cytoplasm

supramolecular complex [inference]

supramolecular polymer [inference]

supramolecular fiber [inference]

polymeric cytoskeletal fiber [inference]

actin filament

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GO Term	Evidence Code	PMID
protein binding	IPI	10585443 10806479 12226091 17355907 17658474 17693255 18381890 18692468 20368287 20412061 21134130 21653829 25263562 26893383 28514442 28561026 33436626 33961781 38890443 9580671 9809973
Hsp70 protein binding	IDA	29127155
ATPase inhibitor activity	IDA	29127155
protein folding chaperone	IDA	10585443
protein-folding chaperone binding	IPI	10585443

GO Hierarchy

molecular function

binding [inference]

protein binding

heat shock protein binding [inference]

protein-folding chaperone binding

Hsp70 protein binding

protein folding chaperone

molecular function regulator activity [inference]

ATPase regulator activity [inference]

ATPase inhibitor activity

molecular function inhibitor activity [inference]

ATPase inhibitor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

hamartin

Functional Category

E: Amino acid transport and metabolism
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
negative regulation of TOR signaling
negative regulation of cell population proliferation

Displaying 1 entry
InterPro
Hamartin

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0080324	tuberous sclerosis 1	Alliance of Genome Resources
DOID:1059	intellectual disability	Alliance of Genome Resources
DOID:13515	tuberous sclerosis	Alliance of Genome Resources
DOID:3319	lymphangioleiomyomatosis	Alliance of Genome Resources

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Last updated: December 8, 2025