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Entry version 134 (07 Apr 2021)
Sequence version 1 (01 Jun 2003)
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Protein
Submitted name:

Hamartin

Gene

TSC1

Organism
Homo sapiens (Human)
Status
Unreviewed-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 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
Submitted name:
HamartinImported
Submitted name:
Tuberous sclerosis 1Imported
<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:TSC1Imported
<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>OrganismiHomo sapiens (Human)Imported
<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 identifieri9606 [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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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
  • UP000005640 <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 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12362, TSC1

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000165699.13

<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

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000165699

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37034

<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

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q86WV8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
70212

<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
ENSG00000165699, Expressed in cerebellum and 258 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q86WV8, baseline and differential

<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 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

Q86WV8
With#Exp.IntAct
ACRV1 [P26436]3EBI-12806590,EBI-25884472
AQP1 [P29972]3EBI-12806590,EBI-745213
ARID5A [Q03989]3EBI-12806590,EBI-948603
ASCL4 [Q6XD76]3EBI-12806590,EBI-10254793
ATL1 [Q8WXF7]3EBI-12806590,EBI-2410266
ATXN1 [P54253]3EBI-12806590,EBI-930964
BAG3 [O95817]3EBI-12806590,EBI-747185
BAG6 - isoform 2 [P46379-2]5EBI-12806590,EBI-10988864
BAK1 [Q16611]3EBI-12806590,EBI-519866
C12orf74 [Q32Q52]3EBI-12806590,EBI-12891828
C1orf94 [Q6P1W5]3EBI-12806590,EBI-946029
C8orf48 [Q96LL4]3EBI-12806590,EBI-751596
CAPG [P40121]3EBI-12806590,EBI-4291044
CCDC120 [Q96HB5]3EBI-12806590,EBI-744556
CCDC158 - isoform 2 [Q5M9N0-2]3EBI-12806590,EBI-21796846
CCL28 [Q9NRJ3]3EBI-12806590,EBI-7783254
CDS2 [O95674]3EBI-12806590,EBI-3913685
CHCHD2 [Q9Y6H1]3EBI-12806590,EBI-2321769
COL26A1 - isoform 2 [Q96A83-2]3EBI-12806590,EBI-21553822
CRLF3 [Q8IUI8]3EBI-12806590,EBI-2872414
CSTF2 [P33240]3EBI-12806590,EBI-711360
CXorf38 [Q8TB03]3EBI-12806590,EBI-12024320
DCAF8 - isoform 2 [Q5TAQ9-2]3EBI-12806590,EBI-25842815
DMRT3 [Q9NQL9]3EBI-12806590,EBI-9679045
DMWD [G5E9A7]3EBI-12806590,EBI-10976677
DNALI1 [O14645]3EBI-12806590,EBI-395638
DNTTIP1 [Q9H147]3EBI-12806590,EBI-2795449
ENKD1 [Q9H0I2]3EBI-12806590,EBI-744099
EXOC5 [O00471]3EBI-12806590,EBI-949824
FAM110A [Q9BQ89]3EBI-12806590,EBI-1752811
FAM222B [Q8WU58]3EBI-12806590,EBI-2807642
FAM98C [Q17RN3]3EBI-12806590,EBI-5461838
FOXH1 [O75593]5EBI-12806590,EBI-1759806
FOXR1 [Q6PIV2]3EBI-12806590,EBI-10253815
FRS3 [O43559]3EBI-12806590,EBI-725515
GFOD1 [Q9NXC2]3EBI-12806590,EBI-8799578
GLIS2 [Q9BZE0]3EBI-12806590,EBI-7251368
GMCL2 [Q8NEA9]3EBI-12806590,EBI-745707
GPANK1 [O95872]5EBI-12806590,EBI-751540
GPATCH2L - isoform 2 [Q9NWQ4-1]3EBI-12806590,EBI-11959863
HAND1 [O96004]3EBI-12806590,EBI-11320290
HID1 [Q8IV36]3EBI-12806590,EBI-743438
HMG20B [Q9P0W2]3EBI-12806590,EBI-713401
HOXC4 [P09017]3EBI-12806590,EBI-3923226
HOXC8 [P31273]3EBI-12806590,EBI-1752118
HR [O43593]3EBI-12806590,EBI-2880706
HSPB1 [P04792]3EBI-12806590,EBI-352682
IGFN1 - isoform 5 [Q86VF2-5]3EBI-12806590,EBI-11955401
KIF1B - isoform 2 [O60333-2]3EBI-12806590,EBI-10975473
KLF11 [O14901]3EBI-12806590,EBI-948266
KLHL20 [Q9Y2M5]3EBI-12806590,EBI-714379
LENG1 [Q96BZ8]3EBI-12806590,EBI-726510
LHX5 [Q9H2C1]3EBI-12806590,EBI-25835523
LHX8 [Q68G74]3EBI-12806590,EBI-8474075
LMO2 - isoform 3 [P25791-3]3EBI-12806590,EBI-11959475
LNX1 [Q8TBB1]3EBI-12806590,EBI-739832
LOC401296 [A2RU56]3EBI-12806590,EBI-9088215
LONRF2 [Q1L5Z9]3EBI-12806590,EBI-2510853
MAGEC2 [Q9UBF1]3EBI-12806590,EBI-5651487
MRFAP1 [Q9Y605]3EBI-12806590,EBI-995714
MSX2 [P35548]3EBI-12806590,EBI-6447480
MYLIP [Q8WY64]6EBI-12806590,EBI-6952711
MYOZ3 [Q8TDC0]3EBI-12806590,EBI-5662487
NEFL [I6L9F6]3EBI-12806590,EBI-10178578
NFX1 [Q12986]3EBI-12806590,EBI-2130062
NR1D2 [Q14995]3EBI-12806590,EBI-6144053
NUP58 [Q9BVL2]3EBI-12806590,EBI-2811583
OTUB1 [Q96FW1]3EBI-12806590,EBI-1058491
OTUD7B - isoform 2 [Q6GQQ9-2]3EBI-12806590,EBI-25830200
PARP11 - isoform 4 [Q9NR21-5]3EBI-12806590,EBI-17159452
PATL1 [Q86TB9]3EBI-12806590,EBI-2562092
PATZ1 - isoform 4 [Q9HBE1-4]3EBI-12806590,EBI-11022007
PITX1 [P78337]3EBI-12806590,EBI-748265
POGZ [Q7Z3K3]3EBI-12806590,EBI-1389308
POU6F2 [P78424]5EBI-12806590,EBI-12029004
PPP1R18 [Q6NYC8]3EBI-12806590,EBI-2557469
PPP1R32 - isoform 2 [Q7Z5V6-2]3EBI-12806590,EBI-12000762
PRPS1 [P60891]3EBI-12806590,EBI-749195
RAB11B [Q15907]3EBI-12806590,EBI-722234
RBFOX1 - isoform 5 [Q9NWB1-5]3EBI-12806590,EBI-12123390
RBPMS - isoform C [Q93062-3]3EBI-12806590,EBI-740343
RGR - isoform 3 [P47804-3]3EBI-12806590,EBI-25834767
RIN1 [Q13671]3EBI-12806590,EBI-366017
RNF11 [Q9Y3C5]3EBI-12806590,EBI-396669
RNF138 [Q8WVD3]3EBI-12806590,EBI-749039
RNF183 [Q96D59]3EBI-12806590,EBI-743938
RUFY4 [Q6ZNE9]3EBI-12806590,EBI-10181525
RXRG [P48443]3EBI-12806590,EBI-712405
SAMD11 [Q96NU1]3EBI-12806590,EBI-14067109
SAMD7 [Q7Z3H4]3EBI-12806590,EBI-12148649
SDCBP [O00560]3EBI-12806590,EBI-727004
SHC3 [Q92529]5EBI-12806590,EBI-79084
SLFN12 [Q8IYM2]3EBI-12806590,EBI-2822550
SMG9 [Q9H0W8]3EBI-12806590,EBI-2872322
SPAG8 - isoform 2 [Q99932-2]6EBI-12806590,EBI-11959123
SPATA24 - isoform 2 [Q86W54-2]3EBI-12806590,EBI-12041693
SPRED1 [Q7Z699]3EBI-12806590,EBI-5235340
STUB1 [Q9UNE7]3EBI-12806590,EBI-357085
SUOX [P51687]3EBI-12806590,EBI-3921347
TBX6 [O95947]3EBI-12806590,EBI-2824328
TCF7L2 - isoform 10 [Q9NQB0-10]3EBI-12806590,EBI-11746252
TFAP2D [Q7Z6R9]3EBI-12806590,EBI-11952651
TGM2 - isoform 2 [P21980-2]3EBI-12806590,EBI-25842075
TLE5 - isoform 2 [Q08117-2]3EBI-12806590,EBI-11741437
TMEM61 [Q8N0U2]3EBI-12806590,EBI-25830583
TMUB2 - isoform 4 [Q71RG4-4]3EBI-12806590,EBI-25831574
TRIM69 - isoform 2 [Q86WT6-2]3EBI-12806590,EBI-11525489
TSGA10IP [Q3SY00]3EBI-12806590,EBI-10241197
TSHZ3 [Q63HK5]3EBI-12806590,EBI-9053916
USP54 - isoform 6 [Q70EL1-9]3EBI-12806590,EBI-11975223
VENTX [O95231]3EBI-12806590,EBI-10191303
VEZF1 [Q14119]3EBI-12806590,EBI-11980193
VGLL3 - isoform 2 [A8MV65-2]3EBI-12806590,EBI-11957216
VPS37A [Q8NEZ2]3EBI-12806590,EBI-2850578
VPS37C [A5D8V6]3EBI-12806590,EBI-2559305
WFS1 [O76024]3EBI-12806590,EBI-720609
ZBTB24 - isoform 2 [O43167-2]3EBI-12806590,EBI-25842419
ZFP2 [Q6ZN57]3EBI-12806590,EBI-7236323
ZIC1 [Q15915]3EBI-12806590,EBI-11963196
ZNF345 [Q14585]3EBI-12806590,EBI-2818408
ZNF366 [Q8N895]3EBI-12806590,EBI-2813661
ZNF417 [Q8TAU3]3EBI-12806590,EBI-740727
ZNF444 - isoform 2 [Q8N0Y2-2]3EBI-12806590,EBI-12010736
ZNF488 - isoform 2 [Q96MN9-2]3EBI-12806590,EBI-25831733
ZNF587 [Q96SQ5]3EBI-12806590,EBI-6427977
ZNF765 - isoform 2 [Q7L2R6-2]3EBI-12806590,EBI-12834294

Protein-protein interaction databases

Protein interaction database and analysis system

More...
IntActi
Q86WV8, 126 interactors

<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

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000014148

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_047836_0_0_1

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>Sequence (1+)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 has 1 described isoform and 22 potential isoforms that are computationally mapped.Show allAlign All

Q86WV8-1 [UniParc]FASTAAdd to basket
« 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 PPQVWCQLVC
360
LLSPLLSGEA DPLGQI
Length:366
Mass (Da):41,155
Last modified:June 1, 2003 - 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:i9DBE1D9A25B83618
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
Q92574TSC1_HUMAN
Hamartin
TSC1 KIAA0243, TSC
1,164Annotation 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>
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>
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>
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>
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>
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>
A0A2R8YGX7A0A2R8YGX7_HUMAN
Hamartin
TSC1
346Annotation 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>
A0A2R8YEH9A0A2R8YEH9_HUMAN
Hamartin
TSC1
177Annotation 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>
A0A2R8YD74A0A2R8YD74_HUMAN
Hamartin
TSC1
347Annotation 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>
There are more potential isoformsShow all

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AL445645 Genomic DNA No translation available.
BC047772 mRNA Translation: AAH47772.1
BC070032 mRNA Translation: AAH70032.1

NCBI Reference Sequences

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RefSeqi
NP_000359.1, NM_000368.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000403810; ENSP00000386093; ENSG00000165699

Database of genes from NCBI RefSeq genomes

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GeneIDi
7248

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:7248

UCSC genome browser

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UCSCi
uc004cce.2, human

<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
AL445645 Genomic DNA No translation available.
BC047772 mRNA Translation: AAH47772.1
BC070032 mRNA Translation: AAH70032.1
RefSeqiNP_000359.1, NM_000368.4

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

IntActiQ86WV8, 126 interactors

Proteomic databases

MaxQBiQ86WV8
ProteomicsDBi70212

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
3164, 1855 antibodies

The DNASU plasmid repository

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DNASUi
7248

Genome annotation databases

EnsembliENST00000403810; ENSP00000386093; ENSG00000165699
GeneIDi7248
KEGGihsa:7248
UCSCiuc004cce.2, human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
7248
HGNCiHGNC:12362, TSC1
OpenTargetsiENSG00000165699
PharmGKBiPA37034
VEuPathDBiHostDB:ENSG00000165699.13

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

GeneTreeiENSGT00390000014148
HOGENOMiCLU_047836_0_0_1

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
7248, 73 hits in 1012 CRISPR screens

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

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ChiTaRSi
TSC1, human

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

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GenomeRNAii
7248

Gene expression databases

BgeeiENSG00000165699, Expressed in cerebellum and 258 other tissues
ExpressionAtlasiQ86WV8, baseline and differential

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
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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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 nameiQ86WV8_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: Q86WV8
<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/TrEMBL: June 1, 2003
Last sequence update: June 1, 2003
Last modified: April 7, 2021
This is version 134 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 statusiUnreviewed (UniProtKB/TrEMBL)
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

<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>Keywords - Technical termi

Proteomics identificationCombined sources, Reference proteomeImported
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