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Entry version 122 (10 Apr 2019)
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

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-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_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 homolog
<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
<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>OrganismiMus musculus (Mouse)
<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 identifieri10090 [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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
<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
  • UP000000589 <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 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.<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_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-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 294 organ(s), highest expression level in ventromedial nucleus of hypothalamus

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9EP53 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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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_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 (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).By similarity1 Publication

<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

WithEntry#Exp.IntActNotes
Tsc2Q610376EBI-1202690,EBI-7924402

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
211115, 123 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

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q9EP53

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

More...
SMRi
Q9EP53

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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 – 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
ENOG410IG36 Eukaryota
ENOG411020J LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000014148

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000232119

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9EP53

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
131264at2759

TreeFam database of animal gene trees

More...
TreeFami
TF325466

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016024 ARM-type_fold
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

Superfamily database of structural and functional annotation

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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_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 (4+)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 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.<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 '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
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
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>
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>

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

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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 Translation: CAM22294.1
AL731851 Genomic DNA Translation: CAM22295.1
AL731851 Genomic DNA Translation: CAM22296.2
CH466542 Genomic DNA Translation: EDL08392.1
BC052399 mRNA Translation: AAH52399.1
AK122229 mRNA Translation: BAC65511.1

The Consensus CDS (CCDS) project

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

NCBI Reference Sequences

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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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Mm.224354

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

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GeneIDi
64930

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
mmu:64930

UCSC genome browser

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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 Translation: CAM22294.1
AL731851 Genomic DNA Translation: CAM22295.1
AL731851 Genomic DNA Translation: CAM22296.2
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]
UniGeneiMm.224354

3D structure databases

ProteinModelPortaliQ9EP53
SMRiQ9EP53
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi211115, 123 interactors
IntActiQ9EP53, 120 interactors
MINTiQ9EP53
STRINGi10090.ENSMUSP00000109500

PTM databases

iPTMnetiQ9EP53
PhosphoSitePlusiQ9EP53

Proteomic databases

jPOSTiQ9EP53
PaxDbiQ9EP53
PeptideAtlasiQ9EP53
PRIDEiQ9EP53

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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

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Rougei
Search...

Phylogenomic databases

eggNOGiENOG410IG36 Eukaryota
ENOG411020J LUCA
GeneTreeiENSGT00390000014148
HOGENOMiHOG000232119
InParanoidiQ9EP53
KOiK07206
OMAiIDLPCGG
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

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

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ChiTaRSi
Tsc1 mouse

Protein Ontology

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PROi
PR:Q9EP53

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSMUSG00000026812 Expressed in 294 organ(s), highest expression level in ventromedial nucleus of hypothalamus
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

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ProtoNeti
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_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: July 28, 2009
Last sequence update: March 1, 2001
Last modified: April 10, 2019
This is version 122 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

Complete proteome, Reference proteome

Documents

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