UniProtKB - Q86WV8 (Q86WV8_HUMAN)
Protein
Submitted name:
Hamartin
Gene
TSC1
Organism
Homo sapiens (Human)
Status
Names & Taxonomyi
Protein namesi | Submitted name: HamartinImportedSubmitted name: Tuberous sclerosis 1Imported |
Gene namesi | Name:TSC1Imported |
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:12362, TSC1 |
VEuPathDBi | HostDB:ENSG00000165699.13 |
Expressioni
Gene expression databases
Bgeei | ENSG00000165699, Expressed in cerebellum and 258 other tissues |
ExpressionAtlasi | Q86WV8, baseline and differential |
Interactioni
Binary interactionsi
Q86WV8
Protein-protein interaction databases
IntActi | Q86WV8, 126 interactors |
Family & Domainsi
Phylogenomic databases
GeneTreei | ENSGT00390000014148 |
HOGENOMi | CLU_047836_0_0_1 |
Family and domain databases
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR007483, Hamartin |
PANTHERi | PTHR15154, PTHR15154, 1 hit |
Pfami | View protein in Pfam PF04388, Hamartin, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
(1+)i Sequence
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
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
Computationally mapped potential isoform sequencesi
There are 22 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketQ92574 | TSC1_HUMAN | Hamartin | TSC1 KIAA0243, TSC | 1,164 | Annotation score: | ||
A0A2R8Y5S3 | A0A2R8Y5S3_HUMAN | Hamartin | TSC1 | 1,163 | Annotation score: | ||
A0A2R8Y5N2 | A0A2R8Y5N2_HUMAN | Hamartin | TSC1 | 1,159 | Annotation score: | ||
A0A2R8Y6S1 | A0A2R8Y6S1_HUMAN | Hamartin | TSC1 | 729 | Annotation score: | ||
A0A2R8YFV7 | A0A2R8YFV7_HUMAN | Hamartin | TSC1 | 1,158 | Annotation score: | ||
A0A2R8Y5M3 | A0A2R8Y5M3_HUMAN | Hamartin | TSC1 | 203 | Annotation score: | ||
A0A2R8YGX7 | A0A2R8YGX7_HUMAN | Hamartin | TSC1 | 346 | Annotation score: | ||
A0A2R8YEH9 | A0A2R8YEH9_HUMAN | Hamartin | TSC1 | 177 | Annotation score: | ||
A0A2R8YD74 | A0A2R8YD74_HUMAN | Hamartin | TSC1 | 347 | Annotation score: | ||
Q59IT9 | Q59IT9_HUMAN | Hamartin | TSC1 | 454 | Annotation score: | ||
There are more potential isoformsShow all |
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 |
RefSeqi | NP_000359.1, NM_000368.4 |
Genome annotation databases
Ensembli | ENST00000403810; ENSP00000386093; ENSG00000165699 |
GeneIDi | 7248 |
KEGGi | hsa:7248 |
UCSCi | uc004cce.2, human |
Similar proteinsi
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 |
RefSeqi | NP_000359.1, NM_000368.4 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
IntActi | Q86WV8, 126 interactors |
Proteomic databases
MaxQBi | Q86WV8 |
ProteomicsDBi | 70212 |
Protocols and materials databases
Antibodypediai | 3164, 1838 antibodies |
DNASUi | 7248 |
Genome annotation databases
Ensembli | ENST00000403810; ENSP00000386093; ENSG00000165699 |
GeneIDi | 7248 |
KEGGi | hsa:7248 |
UCSCi | uc004cce.2, human |
Organism-specific databases
CTDi | 7248 |
HGNCi | HGNC:12362, TSC1 |
OpenTargetsi | ENSG00000165699 |
PharmGKBi | PA37034 |
VEuPathDBi | HostDB:ENSG00000165699.13 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00390000014148 |
HOGENOMi | CLU_047836_0_0_1 |
Miscellaneous databases
BioGRID-ORCSi | 7248, 48 hits in 889 CRISPR screens |
ChiTaRSi | TSC1, human |
GenomeRNAii | 7248 |
Gene expression databases
Bgeei | ENSG00000165699, Expressed in cerebellum and 258 other tissues |
ExpressionAtlasi | Q86WV8, baseline and differential |
Family and domain databases
InterProi | View protein in InterPro IPR016024, ARM-type_fold IPR007483, Hamartin |
PANTHERi | PTHR15154, PTHR15154, 1 hit |
Pfami | View protein in Pfam PF04388, Hamartin, 1 hit |
SUPFAMi | SSF48371, SSF48371, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | Q86WV8_HUMAN | |
Accessioni | Q86WV8Primary (citable) accession number: Q86WV8 | |
Entry historyi | Integrated into UniProtKB/TrEMBL: | June 1, 2003 |
Last sequence update: | June 1, 2003 | |
Last modified: | February 10, 2021 | |
This is version 133 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. |