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UniProtKB - H3BMQ0 (H3BMQ0_HUMAN)
Protein
Submitted name:
Tuberin
Gene
TSC2
Organism
Homo sapiens (Human)
Status
Functioni
GO - Molecular functioni
- GTPase activator activity Source: UniProtKB-UniRule
GO - Biological processi
- negative regulation of TOR signaling Source: InterPro
- positive regulation of GTPase activity Source: InterPro
- regulation of small GTPase mediated signal transduction Source: InterPro
Keywordsi
Molecular function | GTPase activationPROSITE-ProRule annotationARBA annotation |
Names & Taxonomyi
Protein namesi | Submitted name: Tuberin |
Gene namesi | Name:TSC2 |
Organismi | Homo sapiens (Human)Imported |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12363, TSC2 |
VEuPathDBi | HostDB:ENSG00000103197 |
Subcellular locationi
Cytosol
- cytosol Source: HPA
- TSC1-TSC2 complex Source: InterPro
Nucleus
- nucleus Source: InterPro
PTM / Processingi
Proteomic databases
MaxQBi | H3BMQ0 |
PeptideAtlasi | H3BMQ0 |
PRIDEi | H3BMQ0 |
ProteomicsDBi | 40970 |
Expressioni
Gene expression databases
Bgeei | ENSG00000103197, Expressed in right hemisphere of cerebellum and 223 other tissues |
ExpressionAtlasi | H3BMQ0, baseline and differential |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1475 – 1702 | Rap-GAPInterPro annotationAdd BLAST | 228 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 666 – 687 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 941 – 965 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 1050 – 1099 | DisorderedSequence analysisAdd BLAST | 50 | |
Regioni | 1116 – 1141 | DisorderedSequence analysisAdd BLAST | 26 | |
Regioni | 1275 – 1296 | DisorderedSequence analysisAdd BLAST | 22 | |
Regioni | 1308 – 1432 | DisorderedSequence analysisAdd BLAST | 125 | |
Regioni | 1709 – 1737 | DisorderedSequence analysisAdd BLAST | 29 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1050 – 1069 | Polar residuesSequence analysisAdd BLAST | 20 | |
Compositional biasi | 1314 – 1338 | Polar residuesSequence analysisAdd BLAST | 25 | |
Compositional biasi | 1413 – 1428 | Basic and acidic residuesSequence analysisAdd BLAST | 16 |
Phylogenomic databases
GeneTreei | ENSGT00950000183139 |
OrthoDBi | 341431at2759 |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit 3.40.50.11210, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR035974, Rap/Ran-GAP_sf IPR000331, Rap/Ran_GAP_dom IPR003913, Tuberin IPR018515, Tuberin-type_domain IPR027107, Tuberin/Ral-act_asu IPR024584, Tuberin_N |
PANTHERi | PTHR10063, PTHR10063, 3 hits |
Pfami | View protein in Pfam PF11864, DUF3384, 1 hit PF02145, Rap_GAP, 1 hit PF03542, Tuberin, 1 hit |
PRINTSi | PR01431, TUBERIN |
SUPFAMi | SSF111347, SSF111347, 1 hit SSF48371, SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS50085, RAPGAP, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 23 potential isoforms that are computationally mapped.Show allAlign All
H3BMQ0-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MEGFSGASWS TMAKPTSKDS GLKEKFKILL GLGTPRPNPR SAEGKQTEFI
60 70 80 90 100
ITAEILRELS MECGLNNRIR MIGQICEVAK TKKFEEHAVE ALWKAVADLL
110 120 130 140 150
QPERPLEARH AVLALLKAIV QGQGERLGVL RALFFKVIKD YPSNEDLHER
160 170 180 190 200
LEVFKALTDN GRHITYLEEE LADFVLQWMD VGLSSEFLLV LVNLVKFNSC
210 220 230 240 250
YLDEYIARMV QMICLLCVRT ASSVDIEVSL QVLDAVVCYN CLPAESLPLF
260 270 280 290 300
IVTLCRTINV KELCEPCWKL MRNLLGTHLG HSAIYNMCHL MEDRAYMEDA
310 320 330 340 350
PLLRGAVFFV GMALWGAHRL YSLRNSPTSV LPSFYQAMAC PNEVVSYEIV
360 370 380 390 400
LSITRLIKKY RKELQVVAWD ILLNIIERLL QQLQTLDSPE LRTIVHDLLT
410 420 430 440 450
TVEELCDQNE FHGSQERYFE LVERCADQRP ESSLLNLISY RAQSIHPAKD
460 470 480 490 500
GWIQNLQALM ERFFRSESRG AVRIKVLDVL SFVLLINRQF YEEELINSVV
510 520 530 540 550
ISQLSHIPED KDHQVRKLAT QLLVDLAEGC HTHHFNSLLD IIEKVMARSL
560 570 580 590 600
SPPPELEERD VAAYSASLED VKTAVLGLLV ILQTKLYTLP ASHATRVYEM
610 620 630 640 650
LVSHIQLHYK HSYTLPIASS IRLQAFDFLL LLRADSLHRL GLPNKDGVVR
660 670 680 690 700
FSPYCVCDYM EPERGSEKKT SGPLSPPTGP PGPAPAGPAV RLGSVPYSLL
710 720 730 740 750
FRVLLQCLKQ ESDWKVLKLV LGRLPESLRY KVLIFTSPCS VDQLCSALCS
760 770 780 790 800
MLSGPKTLER LRGAPEGFSR TDLHLAVVPV LTALISYHNY LDKTKQREMV
810 820 830 840 850
YCLEQGLIHR CASQCVVALS ICSVEMPDII IKALPVLVVK LTHISATASM
860 870 880 890 900
AVPLLEFLST LARLPHLYRN FAAEQYASVF AISLPYTNPS KFNQYIVCLA
910 920 930 940 950
HHVIAMWFIR CRLPFRKDFV PFITKGLRSN VLLSFDDTPE KDSFRARSTS
960 970 980 990 1000
LNERPKRIQT SLTSASLGSA DENSVAQADD SLKNLHLELT ETCLDMMARY
1010 1020 1030 1040 1050
VFSNFTAVPK RSPVGEFLLA GGRTKTWLVG NKLVTVTTSV GTGTRSLLGL
1060 1070 1080 1090 1100
DSGELQSGPE SSSSPGVHVR QTKEAPAKLE SQAGQQVSRG ARDRVRSMSG
1110 1120 1130 1140 1150
GHGLRVGALD VPASQFLGSA TSPGPRTAPA AKPEKASAGT RVPVQEKTNL
1160 1170 1180 1190 1200
AAYVPLLTQG WAEILVRRPT GNTSWLMSLE NPLSPFSSDI NNMPLQELSN
1210 1220 1230 1240 1250
ALMAAERFKE HRDTALYKSL SVPAASTAKP PPLPRSNTDS AVVMEEGSPG
1260 1270 1280 1290 1300
EVPVLVEPPG LEDVEAALGM DRRTDAYSRS SSVSSQEEKS LHAEELVGRG
1310 1320 1330 1340 1350
IPIERVVSSE GGRPSVDLSF QPSQPLSKSS SSPELQTLQD ILGDPGDKAD
1360 1370 1380 1390 1400
VGRLSPEVKA RSQSGTLDGE SAAWSASGED SRGQPEGPLP SSSPRSPSGL
1410 1420 1430 1440 1450
RPRGYTISDS APSRRGKRVE RDALKSRATA SNAEKVPGIN PSFVFLQLYH
1460 1470 1480 1490 1500
SPFFGDESNK PILLPNESQS FERSVQLLDQ IPSYDTHKIA VLYVGEGQSN
1510 1520 1530 1540 1550
SELAILSNEH GSYRYTEFLT GLGRLIELKD CQPDKVYLGG LDVCGEDGQF
1560 1570 1580 1590 1600
TYCWHDDIMQ AVFHIATLMP TKDVDKHRCD KKRHLGNDFV SIVYNDSGED
1610 1620 1630 1640 1650
FKLGTIKGQF NFVHVIVTPL DYECNLVSLQ CRKDMEGLVD TSVAKIVSDR
1660 1670 1680 1690 1700
NLPFVARQMA LHANMASQVH HSRSNPTDIY PSKWIARLRH IKRLRQRICE
1710 1720 1730 1740 1750
EAAYSNPSLP LVHPPSHSKA PAQTPAEPTP GYEVGQRKRL ISSVEDFTEF
V
Computationally mapped potential isoform sequencesi
There are 23 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketP49815 | TSC2_HUMAN | Tuberin | TSC2 TSC4 | 1,807 | Annotation score: | ||
X5D2U8 | X5D2U8_HUMAN | Tuberin | TSC2 | 1,741 | Annotation score: | ||
A0A2R8Y5F1 | A0A2R8Y5F1_HUMAN | Tuberin | TSC2 | 1,738 | Annotation score: | ||
A0A2R8Y7C8 | A0A2R8Y7C8_HUMAN | Tuberin | TSC2 | 1,782 | Annotation score: | ||
A0A2R8Y7X5 | A0A2R8Y7X5_HUMAN | Tuberin | TSC2 | 1,769 | Annotation score: | ||
A0A2R8YDZ2 | A0A2R8YDZ2_HUMAN | Tuberin | TSC2 | 1,760 | Annotation score: | ||
A0A2R8YGD6 | A0A2R8YGD6_HUMAN | Tuberin | TSC2 | 1,805 | Annotation score: | ||
A0A2R8YGU4 | A0A2R8YGU4_HUMAN | Tuberin | TSC2 | 1,739 | Annotation score: | ||
A0A2R8Y6C9 | A0A2R8Y6C9_HUMAN | Tuberin | TSC2 | 1,359 | Annotation score: | ||
A0A2R8YDR3 | A0A2R8YDR3_HUMAN | Tuberin | TSC2 | 1,781 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC093513 Genomic DNA No translation available. |
RefSeqi | NP_001305761.1, NM_001318832.1 |
Genome annotation databases
Ensembli | ENST00000568454.6; ENSP00000454487.1; ENSG00000103197.18 |
GeneIDi | 7249 |
UCSCi | uc059pfs.1, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC093513 Genomic DNA No translation available. |
RefSeqi | NP_001305761.1, NM_001318832.1 |
3D structure databases
SMRi | H3BMQ0 |
ModBasei | Search... |
Proteomic databases
MaxQBi | H3BMQ0 |
PeptideAtlasi | H3BMQ0 |
PRIDEi | H3BMQ0 |
ProteomicsDBi | 40970 |
Protocols and materials databases
Antibodypediai | 3702, 2059 antibodies from 45 providers |
DNASUi | 7249 |
Genome annotation databases
Ensembli | ENST00000568454.6; ENSP00000454487.1; ENSG00000103197.18 |
GeneIDi | 7249 |
UCSCi | uc059pfs.1, human |
Organism-specific databases
CTDi | 7249 |
HGNCi | HGNC:12363, TSC2 |
OpenTargetsi | ENSG00000103197 |
VEuPathDBi | HostDB:ENSG00000103197 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00950000183139 |
OrthoDBi | 341431at2759 |
Miscellaneous databases
BioGRID-ORCSi | 7249, 142 hits in 1104 CRISPR screens |
ChiTaRSi | TSC2, human |
GenomeRNAii | 7249 |
Gene expression databases
Bgeei | ENSG00000103197, Expressed in right hemisphere of cerebellum and 223 other tissues |
ExpressionAtlasi | H3BMQ0, baseline and differential |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit 3.40.50.11210, 1 hit |
InterProi | View protein in InterPro IPR011989, ARM-like IPR016024, ARM-type_fold IPR035974, Rap/Ran-GAP_sf IPR000331, Rap/Ran_GAP_dom IPR003913, Tuberin IPR018515, Tuberin-type_domain IPR027107, Tuberin/Ral-act_asu IPR024584, Tuberin_N |
PANTHERi | PTHR10063, PTHR10063, 3 hits |
Pfami | View protein in Pfam PF11864, DUF3384, 1 hit PF02145, Rap_GAP, 1 hit PF03542, Tuberin, 1 hit |
PRINTSi | PR01431, TUBERIN |
SUPFAMi | SSF111347, SSF111347, 1 hit SSF48371, SSF48371, 1 hit |
PROSITEi | View protein in PROSITE PS50085, RAPGAP, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | H3BMQ0_HUMAN | |
Accessioni | H3BMQ0Primary (citable) accession number: H3BMQ0 | |
Entry historyi | Integrated into UniProtKB/TrEMBL: | April 18, 2012 |
Last sequence update: | April 18, 2012 | |
Last modified: | May 25, 2022 | |
This is version 77 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Unreviewed (UniProtKB/TrEMBL) | |
Disclaimer | Any 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. |