TSC1

GENE INFORMATION

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Gene name

TSC1 (HGNC Symbol)

Synonyms

hamartin, KIAA0243, LAM, TSC

Description

Tuberous sclerosis 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]

Chromosome

9

Cytoband

q34.13

Chromosome location (bp)

132891348 - 132944633

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000165699 (version 78.38)

Entrez gene

7248

UniProt

Q92574 (UniProt - Evidence at protein level)

neXtProt

NX_Q92574

Antibodypedia

TSC1 antibodies
 

PROTEIN VIEW

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TSC1-001
 
TSC1-003
 
TSC1-201
 
TSC1-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

TSC1-001 ENSP00000298552
ENST00000298552
Q92574
Show all »
Show » Show » 1164 129.8 No 2
TSC1-003 ENSP00000386093
ENST00000403810
Q86WV8
Show all »
Show » Show » 366 41.2 No 2
TSC1-201 ENSP00000394524
ENST00000440111
Q92574
Show all »
Show » Show » 1164 129.8 No 2
TSC1-202 ENSP00000444017
ENST00000545250
Q92574
Show all »
Show » Show » 1113 124 No 1