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UniProtKB - Q9EP53 (TSC1_MOUSE)

Entry version 130 (12 Aug 2020)
Sequence version 1 (01 Mar 2001)
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Protein

Hamartin

Gene

Tsc1

Organism
Mus musculus (Mouse)
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 (By similarity). Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling (PubMed:16707451). 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 (By similarity). Recruits TSC2 to HSP90AA1 and stabilizes TSC2 by preventing the interaction between TSC2 and ubiquitin ligase HERC1 (By similarity).By similarity2 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

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

<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%5Fand%5Ftaxonomy%5Fsection">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 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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>OrganismiMus musculus (Mouse)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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 identifieri10090 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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
  • UP000000589 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">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 2

Organism-specific databases

Mouse genome database (MGD) from Mouse Genome Informatics (MGI)

More...MGIi		MGI:1929183, Tsc1

<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 & Seán O’Donoghue; 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 describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypei

Conditional knockout in glia causes an increase in HSP90AA1 ATPase activity and a down-regulation of ULK1, ERBB2, ESR1 and NR3C1 protein levels in the brain.1 Publication

Keywords - Diseasei

Tumor suppressor

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003799221 – 1161HamartinAdd BLAST1161

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 residuei484PhosphoserineBy similarity1
Modified residuei502PhosphoserineCombined sources1
Modified residuei508PhosphoserineBy similarity1
Modified residuei518PhosphoserineBy similarity1
Modified residuei592PhosphoserineCombined sources1
Modified residuei595PhosphoserineBy similarity1
Modified residuei1094PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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-502 does not affect interaction with TSC2.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9EP53

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

More...PaxDbi		Q9EP53

PeptideAtlas

More...PeptideAtlasi		Q9EP53

PRoteomics IDEntifications database

More...PRIDEi		Q9EP53

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9EP53

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

More...PhosphoSitePlusi		Q9EP53

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSMUSG00000026812, Expressed in ventromedial nucleus of hypothalamus and 311 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9EP53, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9EP53, MM

<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%5Fsection">'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%5Fsection">'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 (By similarity).

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 (By similarity).

Forms a complex containing HSP90AA1, TSC1 and TSC2; TSC1 is required to recruit TCS2 to the complex (By similarity).

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 (By similarity).

Interacts with DOCK7 (By similarity).

Interacts with FBXW5 (By similarity).

Interacts with TBC1D7 (By similarity).

Interacts with WDR45B (By similarity).

Interacts with RPAP3 and URI1 (By similarity).

By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		211115, 125 interactors

Protein interaction database and analysis system

More...IntActi		Q9EP53, 120 interactors

Molecular INTeraction database

More...MINTi		Q9EP53

STRING: functional protein association networks

More...STRINGi		10090.ENSMUSP00000109500

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9EP53, protein

<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

3D structure databases

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

More...SMRi		Q9EP53

Database of comparative protein structure models

More...ModBasei		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 – 784Mediates interaction with WDR45BBy similarityAdd BLAST382

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 – 849Sequence analysisAdd BLAST129
Coiled coili879 – 917Sequence analysisAdd BLAST39
Coiled coili967 – 991Sequence analysisAdd BLAST25

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 biasi312 – 315Poly-Ser4
Compositional biasi692 – 695Poly-Leu4
Compositional biasi1035 – 1040Poly-Ser6
Compositional biasi1106 – 1111Poly-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 putative coiled-coil domain is necessary for interaction with TSC2.By similarity

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QQPT, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000014148

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_011546_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9EP53

KEGG Orthology (KO)

More...KOi		K07206

Identification of Orthologs from Complete Genome Data

More...OMAi		CGMATPP

Database of Orthologous Groups

More...OrthoDBi		131264at2759

TreeFam database of animal gene trees

More...TreeFami		TF325466

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016024, ARM-type_fold
IPR007483, Hamartin

The PANTHER Classification System

More...PANTHERi		PTHR15154, PTHR15154, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04388, Hamartin, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371, SSF48371, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 4 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9EP53-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAQLANIGEL LSMLDSSTLG VRDDVTAIFK ESLNSERGPM LVNTLVDYYL 
        60         70         80         90        100
ETNSQPVLHI LTTLQEPHDK HLLDKINEYV GKAATRLSIL SLLGHVVRLQ 
       110        120        130        140        150
PSWKHKLSQA PLLPSLLKCL KMDTDVVVLT TGVLVLITML PMIPQSGKQH 
       160        170        180        190        200
LLDFFDIFGR LSSWCLKKPG HVTEVYLVHL HASVYALFHR LYGMYPCNFV 
       210        220        230        240        250
SFLRSHYSMK ENVETFEEVV KPMMEHVRIH PELVTGSKDH ELDPRRWKTL 
       260        270        280        290        300
ETHDVVIECA KISLDPTEAS YEDGYSVSHQ LSACFPYRSA DVTTSPYVDT 
       310        320        330        340        350
QNSYGGSTST PSSSSRLMLF SPPGQLPQSL SSPSTRLLPE PLQASLWSPS 
       360        370        380        390        400
AVCGMTTPPT SPGNVPADLS HPYSKAFGTT AGGKGTPSGT PATSPPPAPP 
       410        420        430        440        450
CPQDDCVHGS AAQASATAPR KEERADSSRP YLHRQSNDRG LEDPPGSKGS 
       460        470        480        490        500
VTLRNLPDFL GDLASEEDSI EKDKEEAAIS KELSEITTAE ADPVVPRGGF 
       510        520        530        540        550
DSPFYRDSLS GSQRKTHSAA SGTQGSSVNP EPLHSSLDKH GPDTPKQAFT 
       560        570        580        590        600
PIDPPSGSAD VSPAGDRDRQ TSLETSILTP SPCKIPPQRG VSFGSGQLPP 
       610        620        630        640        650
YDHLFEVALP KTACHFVSKK TEELLKKVKG NPEEDCVPST SPMEVLDRLI 
       660        670        680        690        700
EQGAGAHSKE LSRLSLPSKS VDWTHFGGSP PSDELRTLRD QLLLLHNQLL 
       710        720        730        740        750
YERFKRQQHA LRNRRLLRKV IRAAALEEHN AAMKDQLKLQ EKDIQMWKVS 
       760        770        780        790        800
LQKEQARYSQ LQEQRDTMVT QLHSQIRQLQ HDREEFYNQS QELQTKLEDC 
       810        820        830        840        850
RNMIAELRVE LKKANNKVCH TELLLSQVSQ KLSNSESVQQ QMEFLNRQLL 
       860        870        880        890        900
VLGEVNELYL EQLQSKHPDT TKEVEMMKTA YRKELEKNRS HLLQQNQRLD 
       910        920        930        940        950
ASQRRVLELE SLLAKKDHLL LEQKKYLEDV KSQASGQLLA AESRYEAQRK 
       960        970        980        990       1000
ITRVLELEIL DLYGRLEKDG RLRKLEEDRA EAAEAAEERL DCCSDGCTDS 
      1010       1020       1030       1040       1050
LVGHNEEASG HNGETRTSRP GGTRASCGGR VTGGSSSSSS ELSTPEKPPS 
      1060       1070       1080       1090       1100
QRFSSRWEPA LGEPSSSIPT TVGSLPSSKS FLGMKARELF RNKSESQCDE 
      1110       1120       1130       1140       1150
DSVTMSSSSL SETLKTELGK DSGTENKTSL SLDAPHPSSP NSDNVGQLHI 
      1160 
MDYNETHPEH S
Length:1,161
Mass (Da):128,746
Last modified:March 1, 2001 - v1
<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:iF80ACF8492007801
GO
Isoform 2 (identifier: Q9EP53-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     381-381: Missing.

Show »
Length:1,160
Mass (Da):128,675
Checksum:i3D47312F1393101A
GO
Isoform 3 (identifier: Q9EP53-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     381-381: Missing.
     678-682: Missing.

Show »
Length:1,155
Mass (Da):128,249
Checksum:iED4C4AE278DFECED
GO
Isoform 4 (identifier: Q9EP53-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     381-381: Missing.
     1056-1067: Missing.

Show »
Length:1,148
Mass (Da):127,377
Checksum:i3E6EB98C8A3DC42E
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F2Z3X2F2Z3X2_MOUSE
Hamartin
Tsc1
459Annotation 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>
F2Z3W0F2Z3W0_MOUSE
Hamartin
Tsc1
368Annotation 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>

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_037747381Missing in isoform 2, isoform 3 and isoform 4. 4 Publications1
Alternative sequenceiVSP_037748678 – 682Missing in isoform 3. 2 Publications5
Alternative sequenceiVSP_0377491056 – 1067Missing in isoform 4. 1 PublicationAdd BLAST12

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
AJ271911 Genomic DNA Translation: CAC20676.1
AJ271912 mRNA Translation: CAC20677.1
AK147428 mRNA Translation: BAE27905.1
AB047561 mRNA Translation: BAB60810.1
AL731851 Genomic DNA No translation available.
CH466542 Genomic DNA Translation: EDL08392.1
BC052399 mRNA Translation: AAH52399.1
AK122229 mRNA Translation: BAC65511.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS15844.1 [Q9EP53-2]
CCDS71013.1 [Q9EP53-3]
CCDS79762.1 [Q9EP53-1]

NCBI Reference Sequences

More...RefSeqi		NP_001276504.1, NM_001289575.1 [Q9EP53-1]
NP_001276505.1, NM_001289576.1 [Q9EP53-3]
NP_075025.2, NM_022887.4 [Q9EP53-2]
XP_011237446.1, XM_011239144.1 [Q9EP53-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENSMUST00000028155; ENSMUSP00000028155; ENSMUSG00000026812 [Q9EP53-2]
ENSMUST00000113867; ENSMUSP00000109498; ENSMUSG00000026812 [Q9EP53-3]
ENSMUST00000113869; ENSMUSP00000109500; ENSMUSG00000026812 [Q9EP53-1]
ENSMUST00000113870; ENSMUSP00000109501; ENSMUSG00000026812 [Q9EP53-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		64930

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		mmu:64930

UCSC genome browser

More...UCSCi		uc008iyw.2, mouse [Q9EP53-1]
uc008iyx.2, mouse [Q9EP53-3]
uc008iyz.2, mouse [Q9EP53-2]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ271911 Genomic DNA Translation: CAC20676.1
AJ271912 mRNA Translation: CAC20677.1
AK147428 mRNA Translation: BAE27905.1
AB047561 mRNA Translation: BAB60810.1
AL731851 Genomic DNA No translation available.
CH466542 Genomic DNA Translation: EDL08392.1
BC052399 mRNA Translation: AAH52399.1
AK122229 mRNA Translation: BAC65511.1
CCDSiCCDS15844.1 [Q9EP53-2]
CCDS71013.1 [Q9EP53-3]
CCDS79762.1 [Q9EP53-1]
RefSeqiNP_001276504.1, NM_001289575.1 [Q9EP53-1]
NP_001276505.1, NM_001289576.1 [Q9EP53-3]
NP_075025.2, NM_022887.4 [Q9EP53-2]
XP_011237446.1, XM_011239144.1 [Q9EP53-2]

3D structure databases

SMRiQ9EP53
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi211115, 125 interactors
IntActiQ9EP53, 120 interactors
MINTiQ9EP53
STRINGi10090.ENSMUSP00000109500

PTM databases

iPTMnetiQ9EP53
PhosphoSitePlusiQ9EP53

Proteomic databases

jPOSTiQ9EP53
PaxDbiQ9EP53
PeptideAtlasiQ9EP53
PRIDEiQ9EP53

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3164, 1838 antibodies

Genome annotation databases

EnsembliENSMUST00000028155; ENSMUSP00000028155; ENSMUSG00000026812 [Q9EP53-2]
ENSMUST00000113867; ENSMUSP00000109498; ENSMUSG00000026812 [Q9EP53-3]
ENSMUST00000113869; ENSMUSP00000109500; ENSMUSG00000026812 [Q9EP53-1]
ENSMUST00000113870; ENSMUSP00000109501; ENSMUSG00000026812 [Q9EP53-2]
GeneIDi64930
KEGGimmu:64930
UCSCiuc008iyw.2, mouse [Q9EP53-1]
uc008iyx.2, mouse [Q9EP53-3]
uc008iyz.2, mouse [Q9EP53-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7248
MGIiMGI:1929183, Tsc1

Rodent Unidentified Gene-Encoded large proteins database

More...Rougei		Search...

Phylogenomic databases

eggNOGiENOG502QQPT, Eukaryota
GeneTreeiENSGT00390000014148
HOGENOMiCLU_011546_0_0_1
InParanoidiQ9EP53
KOiK07206
OMAiCGMATPP
OrthoDBi131264at2759
TreeFamiTF325466

Enzyme and pathway databases

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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		64930, 11 hits in 27 CRISPR screens

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

More...ChiTaRSi		Tsc1, mouse

Protein Ontology

More...PROi		PR:Q9EP53
RNActiQ9EP53, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSMUSG00000026812, Expressed in ventromedial nucleus of hypothalamus and 311 other tissues
ExpressionAtlasiQ9EP53, baseline and differential
GenevisibleiQ9EP53, MM

Family and domain databases

InterProiView protein in InterPro
IPR016024, ARM-type_fold
IPR007483, Hamartin
PANTHERiPTHR15154, PTHR15154, 1 hit
PfamiView protein in Pfam
PF04388, Hamartin, 1 hit
SUPFAMiSSF48371, SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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_MOUSE
<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: Q9EP53
Secondary accession number(s): A2AHW1
, Q3UHF2, Q7TS92, Q80U55, Q924U7
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 28, 2009
Last sequence update: March 1, 2001
Last modified: August 12, 2020
This is version 130 of the entry and version 1 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

<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

Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
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