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TSC1

GENERAL INFORMATION

Gene name

 TSC1

Gene description

 Tuberous sclerosis 1

Protein class

 Cancer-related genes
Disease related genes
Plasma proteins
Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic staining.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
CAB011568 , CAB012481
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 TSC1 (HGNC Symbol)

Synonyms

 hamartin, KIAA0243, LAM, TSC

Description

 Tuberous sclerosis 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 9

Cytoband

 q34.13

Chromosome location (bp)

 132891348 - 132944633

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000165699 (version 83.38)

Entrez gene

 7248

UniProt

 Q92574 (UniProt - Evidence at protein level)

neXtProt

 NX_Q92574

Antibodypedia

 TSC1 antibodies

PROTEIN BROWSER
TSC1-001
TSC1-003
TSC1-201
TSC1-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
TSC1-001
ENSP00000298552
ENST00000298552
Q92574 [Direct mapping]
Hamartin
X5D9D2 [Target identity:100%; Query identity:100%]
Tuberous sclerosis 1 isoform A
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001822 [kidney development]
GO:0001843 [neural tube closure]
GO:0001952 [regulation of cell-matrix adhesion]
GO:0002250 [adaptive immune response]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005938 [cell cortex]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006407 [rRNA export from nucleus]
GO:0006417 [regulation of translation]
GO:0006813 [potassium ion transport]
GO:0007050 [cell cycle arrest]
GO:0007160 [cell-matrix adhesion]
GO:0007399 [nervous system development]
GO:0008285 [negative regulation of cell proliferation]
GO:0008286 [insulin receptor signaling pathway]
GO:0010467 [gene expression]
GO:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0021766 [hippocampus development]
GO:0021987 [cerebral cortex development]
GO:0030027 [lamellipodium]
GO:0030030 [cell projection organization]
GO:0030426 [growth cone]
GO:0030695 [GTPase regulator activity]
GO:0032007 [negative regulation of TOR signaling]
GO:0032794 [GTPase activating protein binding]
GO:0032868 [response to insulin]
GO:0032956 [regulation of actin cytoskeleton organization]
GO:0033596 [TSC1-TSC2 complex]
GO:0042552 [myelination]
GO:0043231 [intracellular membrane-bounded organelle]
GO:0043234 [protein complex]
GO:0043379 [memory T cell differentiation]
GO:0043666 [regulation of phosphoprotein phosphatase activity]
GO:0045792 [negative regulation of cell size]
GO:0045859 [regulation of protein kinase activity]
GO:0046323 [glucose import]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0047485 [protein N-terminus binding]
GO:0050808 [synapse organization]
GO:0050821 [protein stabilization]
GO:0051087 [chaperone binding]
GO:0051291 [protein heterooligomerization]
GO:0051492 [regulation of stress fiber assembly]
GO:0051726 [regulation of cell cycle]
GO:0051893 [regulation of focal adhesion assembly]
GO:0051894 [positive regulation of focal adhesion assembly]
GO:0055007 [cardiac muscle cell differentiation]
GO:0090630 [activation of GTPase activity]
Show all
 1164 aa
129.8 kDa 		No 2
TSC1-003
ENSP00000386093
ENST00000403810
Q86WV8 [Direct mapping]
Hamartin; Tuberous sclerosis 1
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Cancer-related genes
   Mutated cancer genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005488 [binding]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0030695 [GTPase regulator activity]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0050790 [regulation of catalytic activity]
GO:0051726 [regulation of cell cycle]
Show all
 366 aa
41.2 kDa 		No 2
TSC1-201
ENSP00000394524
ENST00000440111
Q92574 [Direct mapping]
Hamartin
X5D9D2 [Target identity:100%; Query identity:100%]
Tuberous sclerosis 1 isoform A
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001952 [regulation of cell-matrix adhesion]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005938 [cell cortex]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006407 [rRNA export from nucleus]
GO:0006417 [regulation of translation]
GO:0007050 [cell cycle arrest]
GO:0007160 [cell-matrix adhesion]
GO:0008285 [negative regulation of cell proliferation]
GO:0008286 [insulin receptor signaling pathway]
GO:0010467 [gene expression]
GO:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0030027 [lamellipodium]
GO:0030695 [GTPase regulator activity]
GO:0032007 [negative regulation of TOR signaling]
GO:0032868 [response to insulin]
GO:0033596 [TSC1-TSC2 complex]
GO:0043234 [protein complex]
GO:0043666 [regulation of phosphoprotein phosphatase activity]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0047485 [protein N-terminus binding]
GO:0050821 [protein stabilization]
GO:0051087 [chaperone binding]
GO:0051492 [regulation of stress fiber assembly]
GO:0051726 [regulation of cell cycle]
GO:0051894 [positive regulation of focal adhesion assembly]
GO:0090630 [activation of GTPase activity]
Show all
 1164 aa
129.8 kDa 		No 2
TSC1-202
ENSP00000444017
ENST00000545250
Q92574 [Direct mapping]
Hamartin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Cancer-related genes
   Mutated cancer genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001952 [regulation of cell-matrix adhesion]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0005886 [plasma membrane]
GO:0005938 [cell cortex]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006407 [rRNA export from nucleus]
GO:0006417 [regulation of translation]
GO:0007050 [cell cycle arrest]
GO:0007160 [cell-matrix adhesion]
GO:0008285 [negative regulation of cell proliferation]
GO:0008286 [insulin receptor signaling pathway]
GO:0010467 [gene expression]
GO:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0030027 [lamellipodium]
GO:0030695 [GTPase regulator activity]
GO:0032007 [negative regulation of TOR signaling]
GO:0032868 [response to insulin]
GO:0033596 [TSC1-TSC2 complex]
GO:0043234 [protein complex]
GO:0043666 [regulation of phosphoprotein phosphatase activity]
GO:0046627 [negative regulation of insulin receptor signaling pathway]
GO:0047485 [protein N-terminus binding]
GO:0050821 [protein stabilization]
GO:0051087 [chaperone binding]
GO:0051492 [regulation of stress fiber assembly]
GO:0051726 [regulation of cell cycle]
GO:0051894 [positive regulation of focal adhesion assembly]
GO:0090630 [activation of GTPase activity]
Show all
 1113 aa
124 kDa 		No 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.