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Entry version 187 (13 Feb 2019)
Sequence version 2 (01 Nov 1998)
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Protein

Hamartin

Gene

TSC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling (PubMed:12271141, PubMed:28215400). Seems not to be required for TSC2 GAP activity towards RHEB (PubMed:15340059). Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling (By similarity). Acts as a co-chaperone for HSP90AA1 facilitating HSP90AA1 chaperoning of protein clients such as kinases, TSC2 and glucocorticoid receptor NR3C1 (PubMed:29127155). Increases ATP binding to HSP90AA1 and inhibits HSP90AA1 ATPase activity (PubMed:29127155). Competes with the activating co-chaperone AHSA1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 (PubMed:16464865, PubMed:29127155).By similarity5 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATPase inhibitor activity Source: UniProtKB
  • chaperone binding Source: UniProtKB
  • GTPase activating protein binding Source: Ensembl
  • Hsp70 protein binding Source: UniProtKB
  • Hsp90 protein binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChaperone

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-1632852 Macroautophagy
R-HSA-165181 Inhibition of TSC complex formation by PKB
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-8854214 TBC/RABGAPs

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
Q92574

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q92574

SIGNOR Signaling Network Open Resource

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SIGNORi
Q92574

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Hamartin
Alternative name(s):
Tuberous sclerosis 1 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TSC1
Synonyms:KIAA0243, TSC
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000165699.13

Human Gene Nomenclature Database

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HGNCi
HGNC:12362 TSC1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
605284 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q92574

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Tuberous sclerosis 1 (TSC1)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.
See also OMIM:191100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00939751E → D in TSC1; unknown pathological significance. Corresponds to variant dbSNP:rs118203342EnsemblClinVar.1
Natural variantiVAR_07063661L → R in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203345EnsemblClinVar.1
Natural variantiVAR_05438772L → P in TSC1. 1 PublicationCorresponds to variant dbSNP:rs118203354EnsemblClinVar.1
Natural variantiVAR_070637117L → P in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling. 3 PublicationsCorresponds to variant dbSNP:rs118203368EnsemblClinVar.1
Natural variantiVAR_070638126V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514843EnsemblClinVar.1
Natural variantiVAR_070639128Missing in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication1
Natural variantiVAR_070640132G → D in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514784EnsemblClinVar.1
Natural variantiVAR_070641133V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203381EnsemblClinVar.1
Natural variantiVAR_078845165 – 1164Missing in TSC1. 1 PublicationAdd BLAST1000
Natural variantiVAR_070643180L → P in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203396EnsemblClinVar.1
Natural variantiVAR_009399191L → H in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203403EnsemblClinVar.1
Natural variantiVAR_009400198 – 199NF → I in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling. 1 Publication2
Natural variantiVAR_009401224M → R in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203426EnsemblClinVar.1
Natural variantiVAR_070645246R → K in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203436EnsemblClinVar.1
Natural variantiVAR_070646305G → R in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203468EnsemblClinVar.1
Natural variantiVAR_070647305G → W in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203468EnsemblClinVar.1
Natural variantiVAR_070648336R → Q in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514808EnsemblClinVar.1
Natural variantiVAR_070649362P → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514864EnsemblClinVar.1
Natural variantiVAR_070650411L → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514840EnsemblClinVar.1
Natural variantiVAR_009403417T → I in TSC1; unknown pathological significance; does not affect interaction with TSC2. 3 PublicationsCorresponds to variant dbSNP:rs77464996EnsemblClinVar.1
Natural variantiVAR_054391500R → Q in TSC1. 1 PublicationCorresponds to variant dbSNP:rs118203538EnsemblClinVar.1
Natural variantiVAR_070653523A → P in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203548EnsemblClinVar.1
Natural variantiVAR_009405586 – 589CKIP → S in TSC1. 4
Natural variantiVAR_009407654Q → E in TSC1. 1 PublicationCorresponds to variant dbSNP:rs75820036EnsemblClinVar.1
Natural variantiVAR_070655693D → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514800EnsemblClinVar.1
Natural variantiVAR_070656698L → R in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514802EnsemblClinVar.1
Natural variantiVAR_070657701Q → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203639EnsemblClinVar.1
Natural variantiVAR_009408726A → E in TSC1. 1 PublicationCorresponds to variant dbSNP:rs118203655EnsemblClinVar.1
Natural variantiVAR_070658762N → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203670EnsemblClinVar.1
Natural variantiVAR_070659811R → G in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514814EnsemblClinVar.1
Natural variantiVAR_070660883A → T in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203721EnsemblClinVar.1
Natural variantiVAR_009412899T → S in TSC1. 1 PublicationCorresponds to variant dbSNP:rs76801599EnsemblClinVar.1
Natural variantiVAR_070661978L → V in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514859EnsemblClinVar.1
Natural variantiVAR_0706621043Missing in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication1
Natural variantiVAR_0706641146D → Y in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514806EnsemblClinVar.1
Lymphangioleiomyomatosis (LAM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionProgressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex.
See also OMIM:606690
Focal cortical dysplasia 2 (FCORD2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes: type IIA characterized by dysmorphic neurons and lack of balloon cells; type IIB with dysmorphic neurons and balloon cells.
See also OMIM:607341
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07884422R → W in FCORD2; somatic mutation; decreased interaction with TSC2; decreased function in negative regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs749030456EnsemblClinVar.1
Natural variantiVAR_078846204R → C in FCORD2; somatic mutation; decreased interaction with TSC2; decreased function in negative regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs1060505021Ensembl.1

Keywords - Diseasei

Disease mutation, Epilepsy, Tumor suppressor

Organism-specific databases

DisGeNET

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DisGeNETi
7248

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
TSC1

MalaCards human disease database

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MalaCardsi
TSC1
MIMi191100 phenotype
606690 phenotype
607341 phenotype

Open Targets

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OpenTargetsi
ENSG00000165699

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
210159 Adult hepatocellular carcinoma
269008 Isolated focal cortical dysplasia type IIb
538 Lymphangioleiomyomatosis
805 Tuberous sclerosis complex

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA37034

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TSC1

Domain mapping of disease mutations (DMDM)

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DMDMi
9297077

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000656511 – 1164HamartinAdd BLAST1164

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei487PhosphoserineCombined sources1
Modified residuei505PhosphoserineCombined sources1 Publication1
Modified residuei511PhosphoserineCombined sources1
Modified residuei521PhosphoserineCombined sources1
Modified residuei598PhosphoserineCombined sources1
Modified residuei1100PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylation at Ser-505 does not affect interaction with TSC2.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q92574

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q92574

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q92574

PeptideAtlas

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PeptideAtlasi
Q92574

PRoteomics IDEntifications database

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PRIDEi
Q92574

ProteomicsDB human proteome resource

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ProteomicsDBi
75334
75335 [Q92574-2]

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q92574

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q92574

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q92574

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000165699 Expressed in 245 organ(s), highest expression level in cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q92574 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92574 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB011568
CAB012481
HPA074132

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones STIP1/HOP, CDC37, PPP5C, PTGES3/p23, TSC1 and client protein TSC2 (PubMed:29127155). Forms a complex composed of chaperones HSP90 and HSP70, co-chaperones CDC37, PPP5C, TSC1 and client protein TSC2, CDK4, AKT, RAF1 and NR3C1; this complex does not contain co-chaperones STIP1/HOP and PTGES3/p23 (PubMed:29127155). Forms a complex containing HSP90AA1, TSC1 and TSC2; TSC1 is required to recruit TCS2 to the complex (PubMed:29127155). Interacts (via C-terminus) with the closed form of HSP90AA1 (via the middle domain and TPR repeat-binding motif) (PubMed:29127155). Interacts with TSC2; the interaction stabilizes TSC2 and prevents TSC2 self-aggregation (PubMed:10585443, PubMed:15963462, PubMed:16464865, PubMed:9580671, PubMed:9809973, PubMed:29127155, PubMed:28215400). Interacts with DOCK7 (PubMed:15963462). Interacts with FBXW5 (PubMed:18381890). Interacts with TBC1D7 (PubMed:17658474). Interacts with WDR45B (PubMed:28561066).10 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113099, 76 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q92574

Protein interaction database and analysis system

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IntActi
Q92574, 43 interactors

Molecular INTeraction database

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MINTi
Q92574

STRING: functional protein association networks

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STRINGi
9606.ENSP00000298552

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11164
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4Z6YX-ray2.81C/D/F/H938-993[»]
5EJCX-ray3.10C/D/E/F939-992[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q92574

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q92574

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni403 – 787Mediates interaction with WDR45B1 PublicationAdd BLAST385

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili721 – 997Sequence analysisAdd BLAST277

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1034 – 1037Poly-Gly4
Compositional biasi1038 – 1043Poly-Ser6

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IG36 Eukaryota
ENOG411020J LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000014148

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000232119

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG012559

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92574

KEGG Orthology (KO)

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KOi
K07206

Identification of Orthologs from Complete Genome Data

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OMAi
IDLPCGG

Database of Orthologous Groups

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OrthoDBi
1386217at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q92574

TreeFam database of animal gene trees

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TreeFami
TF325466

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR007483 Hamartin

The PANTHER Classification System

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PANTHERi
PTHR15154 PTHR15154, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF04388 Hamartin, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 22 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92574-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAQQANVGEL LAMLDSPMLG VRDDVTAVFK ENLNSDRGPM LVNTLVDYYL
60 70 80 90 100
ETSSQPALHI LTTLQEPHDK HLLDRINEYV GKAATRLSIL SLLGHVIRLQ
110 120 130 140 150
PSWKHKLSQA PLLPSLLKCL KMDTDVVVLT TGVLVLITML PMIPQSGKQH
160 170 180 190 200
LLDFFDIFGR LSSWCLKKPG HVAEVYLVHL HASVYALFHR LYGMYPCNFV
210 220 230 240 250
SFLRSHYSMK ENLETFEEVV KPMMEHVRIH PELVTGSKDH ELDPRRWKRL
260 270 280 290 300
ETHDVVIECA KISLDPTEAS YEDGYSVSHQ ISARFPHRSA DVTTSPYADT
310 320 330 340 350
QNSYGCATST PYSTSRLMLL NMPGQLPQTL SSPSTRLITE PPQATLWSPS
360 370 380 390 400
MVCGMTTPPT SPGNVPPDLS HPYSKVFGTT AGGKGTPLGT PATSPPPAPL
410 420 430 440 450
CHSDDYVHIS LPQATVTPPR KEERMDSARP CLHRQHHLLN DRGSEEPPGS
460 470 480 490 500
KGSVTLSDLP GFLGDLASEE DSIEKDKEEA AISRELSEIT TAEAEPVVPR
510 520 530 540 550
GGFDSPFYRD SLPGSQRKTH SAASSSQGAS VNPEPLHSSL DKLGPDTPKQ
560 570 580 590 600
AFTPIDLPCG SADESPAGDR ECQTSLETSI FTPSPCKIPP PTRVGFGSGQ
610 620 630 640 650
PPPYDHLFEV ALPKTAHHFV IRKTEELLKK AKGNTEEDGV PSTSPMEVLD
660 670 680 690 700
RLIQQGADAH SKELNKLPLP SKSVDWTHFG GSPPSDEIRT LRDQLLLLHN
710 720 730 740 750
QLLYERFKRQ QHALRNRRLL RKVIKAAALE EHNAAMKDQL KLQEKDIQMW
760 770 780 790 800
KVSLQKEQAR YNQLQEQRDT MVTKLHSQIR QLQHDREEFY NQSQELQTKL
810 820 830 840 850
EDCRNMIAEL RIELKKANNK VCHTELLLSQ VSQKLSNSES VQQQMEFLNR
860 870 880 890 900
QLLVLGEVNE LYLEQLQNKH SDTTKEVEMM KAAYRKELEK NRSHVLQQTQ
910 920 930 940 950
RLDTSQKRIL ELESHLAKKD HLLLEQKKYL EDVKLQARGQ LQAAESRYEA
960 970 980 990 1000
QKRITQVFEL EILDLYGRLE KDGLLKKLEE EKAEAAEAAE ERLDCCNDGC
1010 1020 1030 1040 1050
SDSMVGHNEE ASGHNGETKT PRPSSARGSS GSRGGGGSSS SSSELSTPEK
1060 1070 1080 1090 1100
PPHQRAGPFS SRWETTMGEA SASIPTTVGS LPSSKSFLGM KARELFRNKS
1110 1120 1130 1140 1150
ESQCDEDGMT SSLSESLKTE LGKDLGVEAK IPLNLDGPHP SPPTPDSVGQ
1160
LHIMDYNETH HEHS
Length:1,164
Mass (Da):129,767
Last modified:November 1, 1998 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEF15509385C7AACC
GO
Isoform 2 (identifier: Q92574-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     70-120: Missing.

Note: No experimental confirmation available.
Show »
Length:1,113
Mass (Da):124,015
Checksum:i6EA012443870A73C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 22 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y5M3A0A2R8Y5M3_HUMAN
Hamartin
TSC1
203Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5S3A0A2R8Y5S3_HUMAN
Hamartin
TSC1
1,163Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YFV7A0A2R8YFV7_HUMAN
Hamartin
TSC1
1,158Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5N2A0A2R8Y5N2_HUMAN
Hamartin
TSC1
1,159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6S1A0A2R8Y6S1_HUMAN
Hamartin
TSC1
729Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q86WV8Q86WV8_HUMAN
Hamartin
TSC1
366Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q59IT9Q59IT9_HUMAN
Hamartin
TSC1
454Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6W1A0A2R8Y6W1_HUMAN
Hamartin
TSC1
453Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YGL0A0A2R8YGL0_HUMAN
Hamartin
TSC1
224Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7E9A0A2R8Y7E9_HUMAN
Hamartin
TSC1
381Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07884422R → W in FCORD2; somatic mutation; decreased interaction with TSC2; decreased function in negative regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs749030456EnsemblClinVar.1
Natural variantiVAR_00939751E → D in TSC1; unknown pathological significance. Corresponds to variant dbSNP:rs118203342EnsemblClinVar.1
Natural variantiVAR_07063661L → R in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203345EnsemblClinVar.1
Natural variantiVAR_05438668H → R in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2. 1 PublicationCorresponds to variant dbSNP:rs118203347EnsemblClinVar.1
Natural variantiVAR_05438772L → P in TSC1. 1 PublicationCorresponds to variant dbSNP:rs118203354EnsemblClinVar.1
Natural variantiVAR_070637117L → P in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling. 3 PublicationsCorresponds to variant dbSNP:rs118203368EnsemblClinVar.1
Natural variantiVAR_070638126V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514843EnsemblClinVar.1
Natural variantiVAR_070639128Missing in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication1
Natural variantiVAR_070640132G → D in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514784EnsemblClinVar.1
Natural variantiVAR_070641133V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203381EnsemblClinVar.1
Natural variantiVAR_054388158F → C in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2. 1 PublicationCorresponds to variant dbSNP:rs118203385EnsemblClinVar.1
Natural variantiVAR_070642158F → S Found in a patient suspected of having tuberous sclerosis; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203385EnsemblClinVar.1
Natural variantiVAR_078845165 – 1164Missing in TSC1. 1 PublicationAdd BLAST1000
Natural variantiVAR_070643180L → P in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203396EnsemblClinVar.1
Natural variantiVAR_009398190R → S. 1
Natural variantiVAR_009399191L → H in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203403EnsemblClinVar.1
Natural variantiVAR_009400198 – 199NF → I in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling. 1 Publication2
Natural variantiVAR_078846204R → C in FCORD2; somatic mutation; decreased interaction with TSC2; decreased function in negative regulation of TOR signaling. 1 PublicationCorresponds to variant dbSNP:rs1060505021Ensembl.1
Natural variantiVAR_070644204R → P Found in a patient suspected of having tuberous sclerosis; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514834EnsemblClinVar.1
Natural variantiVAR_054389206H → D in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2. 1 Publication1
Natural variantiVAR_054390216F → L in a bladder tumor; diffuse punctate cytoplasmic distribution in aminoacid-starved conditions; does not affect interaction with TSC2. 1 PublicationCorresponds to variant dbSNP:rs1323541164Ensembl.1
Natural variantiVAR_009401224M → R in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203426EnsemblClinVar.1
Natural variantiVAR_070645246R → K in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203436EnsemblClinVar.1
Natural variantiVAR_070646305G → R in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203468EnsemblClinVar.1
Natural variantiVAR_070647305G → W in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203468EnsemblClinVar.1
Natural variantiVAR_009402322M → T5 PublicationsCorresponds to variant dbSNP:rs1073123EnsemblClinVar.1
Natural variantiVAR_070648336R → Q in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514808EnsemblClinVar.1
Natural variantiVAR_070649362P → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514864EnsemblClinVar.1
Natural variantiVAR_070650411L → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514840EnsemblClinVar.1
Natural variantiVAR_009403417T → I in TSC1; unknown pathological significance; does not affect interaction with TSC2. 3 PublicationsCorresponds to variant dbSNP:rs77464996EnsemblClinVar.1
Natural variantiVAR_070651448P → S Rare polymorphism; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203518EnsemblClinVar.1
Natural variantiVAR_054391500R → Q in TSC1. 1 PublicationCorresponds to variant dbSNP:rs118203538EnsemblClinVar.1
Natural variantiVAR_070652509R → Q Rare polymorphism; no effect on expression; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203543EnsemblClinVar.1
Natural variantiVAR_070653523A → P in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203548EnsemblClinVar.1
Natural variantiVAR_070654567A → V Rare polymorphism; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514880EnsemblClinVar.1
Natural variantiVAR_009404577E → D1 PublicationCorresponds to variant dbSNP:rs118203571EnsemblClinVar.1
Natural variantiVAR_009405586 – 589CKIP → S in TSC1. 4
Natural variantiVAR_009406587K → R2 PublicationsCorresponds to variant dbSNP:rs118203576EnsemblClinVar.1
Natural variantiVAR_009407654Q → E in TSC1. 1 PublicationCorresponds to variant dbSNP:rs75820036EnsemblClinVar.1
Natural variantiVAR_070655693D → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514800EnsemblClinVar.1
Natural variantiVAR_070656698L → R in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514802EnsemblClinVar.1
Natural variantiVAR_070657701Q → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203639EnsemblClinVar.1
Natural variantiVAR_009408726A → E in TSC1. 1 PublicationCorresponds to variant dbSNP:rs118203655EnsemblClinVar.1
Natural variantiVAR_009409732H → Y Rare polymorphism; might be associated with susceptibility to focal cortical dysplasia of the Taylor balloon cell type. 4 PublicationsCorresponds to variant dbSNP:rs118203657EnsemblClinVar.1
Natural variantiVAR_070658762N → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203670EnsemblClinVar.1
Natural variantiVAR_009410809E → Q1 PublicationCorresponds to variant dbSNP:rs118203692EnsemblClinVar.1
Natural variantiVAR_070659811R → G in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514814EnsemblClinVar.1
Natural variantiVAR_009411829S → R1 PublicationCorresponds to variant dbSNP:rs118203699EnsemblClinVar.1
Natural variantiVAR_070660883A → T in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203721EnsemblClinVar.1
Natural variantiVAR_009412899T → S in TSC1. 1 PublicationCorresponds to variant dbSNP:rs76801599EnsemblClinVar.1
Natural variantiVAR_070661978L → V in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514859EnsemblClinVar.1
Natural variantiVAR_0094131035G → S Rare polymorphism; no effect on expression; no effect on inhibition of TORC1 signaling. 3 PublicationsCorresponds to variant dbSNP:rs118203742EnsemblClinVar.1
Natural variantiVAR_0706621043Missing in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication1
Natural variantiVAR_0706631097R → H Rare polymorphism; no effect on expression; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs118203750EnsemblClinVar.1
Natural variantiVAR_0094141108G → S1 PublicationCorresponds to variant dbSNP:rs118203753EnsemblClinVar.1
Natural variantiVAR_0706641146D → Y in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 PublicationCorresponds to variant dbSNP:rs397514806EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04289070 – 120Missing in isoform 2. 1 PublicationAdd BLAST51

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF013168 mRNA Translation: AAC51674.1
AK303030 mRNA Translation: BAH13883.1
AL445645 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88021.1
AC002096 Genomic DNA No translation available.
D87683 mRNA Translation: BAA13436.1
AF234185 Genomic DNA Translation: AAF61948.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS55350.1 [Q92574-2]
CCDS6956.1 [Q92574-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T03814

NCBI Reference Sequences

More...
RefSeqi
NP_000359.1, NM_000368.4 [Q92574-1]
NP_001155898.1, NM_001162426.1
NP_001155899.1, NM_001162427.1 [Q92574-2]
XP_005272268.1, XM_005272211.1 [Q92574-1]
XP_006717334.1, XM_006717271.1 [Q92574-1]
XP_011517281.1, XM_011518979.2 [Q92574-1]
XP_016870585.1, XM_017015096.1 [Q92574-1]
XP_016870586.1, XM_017015097.1 [Q92574-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.370854

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000298552; ENSP00000298552; ENSG00000165699 [Q92574-1]
ENST00000440111; ENSP00000394524; ENSG00000165699 [Q92574-1]
ENST00000545250; ENSP00000444017; ENSG00000165699 [Q92574-2]
ENST00000643072; ENSP00000496691; ENSG00000165699 [Q92574-2]
ENST00000643875; ENSP00000495158; ENSG00000165699 [Q92574-1]
ENST00000646625; ENSP00000496263; ENSG00000165699 [Q92574-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
7248

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7248

UCSC genome browser

More...
UCSCi
uc064wss.1 human [Q92574-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Tuberous sclerosis database Tuberous sclerosis 1 (TSC1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF013168 mRNA Translation: AAC51674.1
AK303030 mRNA Translation: BAH13883.1
AL445645 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW88021.1
AC002096 Genomic DNA No translation available.
D87683 mRNA Translation: BAA13436.1
AF234185 Genomic DNA Translation: AAF61948.1
CCDSiCCDS55350.1 [Q92574-2]
CCDS6956.1 [Q92574-1]
PIRiT03814
RefSeqiNP_000359.1, NM_000368.4 [Q92574-1]
NP_001155898.1, NM_001162426.1
NP_001155899.1, NM_001162427.1 [Q92574-2]
XP_005272268.1, XM_005272211.1 [Q92574-1]
XP_006717334.1, XM_006717271.1 [Q92574-1]
XP_011517281.1, XM_011518979.2 [Q92574-1]
XP_016870585.1, XM_017015096.1 [Q92574-1]
XP_016870586.1, XM_017015097.1 [Q92574-1]
UniGeneiHs.370854

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4Z6YX-ray2.81C/D/F/H938-993[»]
5EJCX-ray3.10C/D/E/F939-992[»]
ProteinModelPortaliQ92574
SMRiQ92574
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113099, 76 interactors
CORUMiQ92574
IntActiQ92574, 43 interactors
MINTiQ92574
STRINGi9606.ENSP00000298552

PTM databases

CarbonylDBiQ92574
iPTMnetiQ92574
PhosphoSitePlusiQ92574

Polymorphism and mutation databases

BioMutaiTSC1
DMDMi9297077

Proteomic databases

EPDiQ92574
jPOSTiQ92574
PaxDbiQ92574
PeptideAtlasiQ92574
PRIDEiQ92574
ProteomicsDBi75334
75335 [Q92574-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
7248
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298552; ENSP00000298552; ENSG00000165699 [Q92574-1]
ENST00000440111; ENSP00000394524; ENSG00000165699 [Q92574-1]
ENST00000545250; ENSP00000444017; ENSG00000165699 [Q92574-2]
ENST00000643072; ENSP00000496691; ENSG00000165699 [Q92574-2]
ENST00000643875; ENSP00000495158; ENSG00000165699 [Q92574-1]
ENST00000646625; ENSP00000496263; ENSG00000165699 [Q92574-1]
GeneIDi7248
KEGGihsa:7248
UCSCiuc064wss.1 human [Q92574-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
7248
DisGeNETi7248
EuPathDBiHostDB:ENSG00000165699.13

GeneCards: human genes, protein and diseases

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GeneCardsi
TSC1
GeneReviewsiTSC1
HGNCiHGNC:12362 TSC1
HPAiCAB011568
CAB012481
HPA074132
MalaCardsiTSC1
MIMi191100 phenotype
605284 gene
606690 phenotype
607341 phenotype
neXtProtiNX_Q92574
OpenTargetsiENSG00000165699
Orphaneti210159 Adult hepatocellular carcinoma
269008 Isolated focal cortical dysplasia type IIb
538 Lymphangioleiomyomatosis
805 Tuberous sclerosis complex
PharmGKBiPA37034

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IG36 Eukaryota
ENOG411020J LUCA
GeneTreeiENSGT00390000014148
HOGENOMiHOG000232119
HOVERGENiHBG012559
InParanoidiQ92574
KOiK07206
OMAiIDLPCGG
OrthoDBi1386217at2759
PhylomeDBiQ92574
TreeFamiTF325466

Enzyme and pathway databases

ReactomeiR-HSA-1632852 Macroautophagy
R-HSA-165181 Inhibition of TSC complex formation by PKB
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-8854214 TBC/RABGAPs
SABIO-RKiQ92574
SignaLinkiQ92574
SIGNORiQ92574

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TSC1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
TSC1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
7248

Protein Ontology

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PROi
PR:Q92574

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000165699 Expressed in 245 organ(s), highest expression level in cerebellum
ExpressionAtlasiQ92574 baseline and differential
GenevisibleiQ92574 HS

Family and domain databases

InterProiView protein in InterPro
IPR007483 Hamartin
PANTHERiPTHR15154 PTHR15154, 1 hit
PfamiView protein in Pfam
PF04388 Hamartin, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTSC1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92574
Secondary accession number(s): B7Z897, Q5VVN5
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1998
Last modified: February 13, 2019
This is version 187 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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