Tissue expression of TSC1 - Summary - The Human Protein Atlas

GENERAL INFORMATION

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Protein class

Protein class the gene product belongs to according to selected gene lists. List of protein classes.

Predicted localization

Protein localization predicted from several bioinformatic algorithms. More info...

Number of transcripts

Number of protein-coding transcribed from this gene as defined by Ensembl.

Gene name

TSC1

Gene description

Tuberous sclerosis 1

Protein class

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

Predicted localization

Membrane

Number of transcripts

ANTIBODY RELIABILITY

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Data reliability description

Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile. Currently, not all genes have been analyzed by knowledge-based annotation, indicated by "Pending RNA-based expert annotation", when applicable.

Data reliability

Data reliability score (score description), divided into supportive (premium) or uncertain (not premium), is based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data.

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
CAB011568 , CAB012481

GENE INFORMATION

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Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

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

Cytoband

q34.13

Chromosome location (bp)

132891348 - 132944633

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000165699 (version 78.38)

Entrez gene

7248

UniProt

Q92574 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TSC1-001

ENSP00000298552
ENST00000298552

Q92574
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Q92574 [Direct mapping]
Hamartin
X5D9D2 [Target identity:100%; Query identity:100%]
Tuberous sclerosis 1 isoform A {ECO:0000313|EMBL:AHW56593.1}

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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
Cytoskeleton related 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)

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GO:0001822 [kidney development]
GO:0001843 [neural tube closure]
GO:0001952 [regulation of cell-matrix adhesion]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005856 [cytoskeleton]
GO:0005884 [actin filament]
GO:0005938 [cell cortex]
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: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:0032862 [activation of Rho GTPase activity]
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: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]

1164

129.8

TSC1-003

ENSP00000386093
ENST00000403810

Q86WV8
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Q86WV8 [Target identity:100%; Query identity:100%]
Hamartin {ECO:0000313|Ensembl:ENSP00000386093}; Tuberous sclerosis 1 {ECO:0000313|EMBL:AAH47772.1}

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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 (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0005488 [binding]

366

41.2

TSC1-201

ENSP00000394524
ENST00000440111

Q92574
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Q92574 [Direct mapping]
Hamartin
X5D9D2 [Target identity:100%; Query identity:100%]
Tuberous sclerosis 1 isoform A {ECO:0000313|EMBL:AHW56593.1}

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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 » « Hide

GO:0001952 [regulation of cell-matrix adhesion]
GO:0005488 [binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0005938 [cell cortex]
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:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0030027 [lamellipodium]
GO:0030695 [GTPase regulator activity]
GO:0032007 [negative regulation of TOR signaling]
GO:0032862 [activation of Rho GTPase activity]
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]

1164

129.8

TSC1-202

ENSP00000444017
ENST00000545250

Q92574
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Q92574 [Direct mapping]
Hamartin

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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 » « Hide

GO:0001952 [regulation of cell-matrix adhesion]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005884 [actin filament]
GO:0005938 [cell cortex]
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:0016020 [membrane]
GO:0017148 [negative regulation of translation]
GO:0030027 [lamellipodium]
GO:0030695 [GTPase regulator activity]
GO:0032007 [negative regulation of TOR signaling]
GO:0032862 [activation of Rho GTPase activity]
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]

1113

124

Protein class

Predicted localization

Number of transcripts

RNA tissue category

Protein evidence

Protein localization

Data reliability description

Data reliability

RNA expression (FPKM)

Protein expression (score)

HPA dataset

RNA tissue category HPA

GTEx dataset

RNA tissue category GTEx

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