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TSC1 Gene

protein-coding GIFtS: 75

GC09M134756

tuberous sclerosis 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: TSC)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
KIAA0243 ^¹, ², ³
LAM ^¹, ², ⁵
MGC86987 ^²
OTTHUMP00000022439 ^²
TSC ^², ³
hamartin ^¹, ²

Descriptions
Tuberous sclerosis 1 protein ^², ³
tuberous sclerosis 1 ^²
tumor suppressor ^²

External Ids
HGNC: 12362¹
Entrez Gene: 7248²
UniProtKB: Q92574³
Ensembl: ENSG00000165699⁷

Search outside databases for aliases for TSC1 gene

Previous GC identifers: GC09M126791 GC09M127323 GC09M129120 GC09M131042 GC09M132796

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574

Function: Implicated as a tumor suppressor. May have a function in vesicular transport. Interaction

between TSC1 and TSC2 may facilitate vesicular docking

Gene Wiki entry for TSC1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the TSC1 gene

Entrez Gene cytogenetic band: 9q34 Ensembl cytogenetic band: 9q34.13 HGNC cytogenetic band: 9q34

TSC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M134756: (about GC identifiers)

Start:	134,756,557 bp from pter
End:	134,809,841 bp from pter
Size:	53,285 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000009.10 NT_035014.4

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574 (See protein sequence)

Recommended Name: Hamartin

Size: 1164 amino acids; 129767 Da

Subunit: Interacts with TSC2, leading to stabilize TSC2. In the absence of TSC2, TSC1

self-aggregates. Interacts with DOCK7

Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state found

in association with membranes

Post-translational modifications:

Phosphorylation at Ser-505 does not affect interaction with TSC2¹

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000359.1 NP_001008567.1

ENSEMBL proteins:

ENSP00000298552 ENSP00000386093

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich CompoZr ZFN for TSC1
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Hamartin)
	Human Recombinant Proteins from Abnova (TSC1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	IDA	16636147
GO:0005737	cytoplasm	IDA	9580671
GO:0005829	cytosol	IDA	10585443
GO:0005884	colocalizes with actin filament	IDA	10806479
GO:0005938	cell cortex	IDA	10806479

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Antibodies for TSC1:

	Invitrogen Antibodies for TSC1
	Millipore Mono- and Polyclonal Antibodies for the study of TSC1
	Sigma-Aldrich Antibodies for TSC1
	R&D Systems Antibodies for TSC1
	Cell Signaling Technology (CST) Antibodies for TSC1
	Antibodies from Abcam (Hamartin), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (TSC1)
	Novus Biologicals Antibodies for TSC1

Assays for TSC1:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of TSC1
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry Q92574

ProtoNet protein and cluster: Q92574

1 Blocks protein family: IPB007483 Hamartin

UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574

Domain: The C-terminal putative coiled-coil domain is necessary for interaction with TSC2

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TSC1)
		Millipore RNAi Products for the Analysis of TSC1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (TSC1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001008567

Applied Biosystems Silencer® siRNAs for TSC1

Sigma-Aldrich siRNA for TSC1

Sigma-Aldrich shRNA Panels and shRNA for TSC1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000368
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000368
untagged cDNA clones in CMV expression vector (see all 2): NM_000368

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000368

UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574

Function: Implicated as a tumor suppressor. May have a function in vesicular transport. Interaction

between TSC1 and TSC2 may facilitate vesicular docking

Genatlas biochemistry entry for TSC1:

hamartin,130kDa,widely expressed,homolog of a yeast protein of unknown function,putative growth

suppressor gene,interacting with tuberin (TBR) through its coiled coil domain,localized to

cytoplasmic vesicles,expressed in neuroglial cells of TSC tubers

15/17 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Tsc1) (see all 17 ):

	behavior/neurological	craniofacial	embryogenesis	growth/size
hearing/vestibular/ear	homeostasis/metabolism	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging
liver/biliary system	muscle	nervous system	renal/urinary system	skeleton

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0047485	protein N-terminus binding	IPI	10806479 12226091
GO:0051087	chaperone binding	IPI	10585443

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for TSC1 (Your Favorite Gene powered by Ingenuity)

Insulin Receptor Signaling
14-3-3-mediated Signaling
PI3K/AKT Signaling

GeneDecks TSC1 for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for TSC1

5/56 Interacting proteins for TSC1 (Q92574^{1, 2} ENSP00000298552³) via UniProtKB, MINT, and/or STRING (see all 56 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IKBKB	O14920¹, ENSP00000339151³	EBI-1386638, EBI-81266 STRING (score=.977)
NGFRAP1	Q00994¹, ENSP00000361718³	EBI-1386638, EBI-741753 STRING (score=.93)
TSC2	P49815¹^,², ENSP00000219476³	EBI-1386638, EBI-396587 MINT-16238 EBI-1386638, EBI-396587 MINT-16238 STRING (score=.999)
TSC2	P49815¹^,², ENSP00000219476³	EBI-1386638, EBI-396587 MINT-16238 EBI-1386638, EBI-396587 MINT-16238 STRING (score=.999)
YWHAB	P31946²	MINT-50948

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5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001952	regulation of cell-matrix adhesion	IMP	10806479
GO:0006407	rRNA export from nucleus	IMP	17308101
GO:0008285	negative regulation of cell proliferation	IMP	10915759
GO:0017148	negative regulation of translation	IMP	17308101
GO:0031397	negative regulation of protein ubiquitination	IDA	11175345

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for TSC1
7 Novoseek chemical compound relationships for TSC1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
phosphoinositide	41.37	4	12773160 (1), 16231158 (1), 12773161 (1), 12773163 (1)
phosphatidylinositol	27.62	4	17013611 (1), 16459993 (1), 17910583 (1), 15809346 (1)
glucose	1.60	3	17948886 (2), 18650261 (1)
guanosine	0.00	1	14668532 (1)
threonine	0.00	2	14993219 (1), 18067639 (1)
glycogen	0.00	1	12511557 (1)
tyrosine	0.00	1	11741832 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (TSC1)
		Millipore RNAi Products for the Analysis of TSC1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (TSC1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001008567

Sigma-Aldrich siRNA for TSC1

Sigma-Aldrich shRNA Panels and shRNA for TSC1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000368 NM_001008567

REFSEQ mRNAs for TSC1 gene (2 alternative transcripts):

NM_000368.3 NM_001008567.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000368 NM_001008567

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000368
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000368
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000368

Additional cDNA sequence:

AB190910.1 AF013168.1 AK297326.1 AK299654.1 AK303030.1 AK308412.1 BC047772.2 BC070032.1

BC108668.1 BC121000.2 CR622174.1 D87683.1

8 DOTS entries:

DT.215668 DT.100650171 DT.92465972 DT.92432512 DT.121207875 DT.121207866 DT.91699779 DT.121207872

24/194 AceView cDNA sequences (see all 194 ):

BM706039 BU742107 BF475361 AU279606 AU133424 CN478627 BU735244 BM717889

BM674124 AI972371 BC047772 BM701217 AA455968 AW204605 BQ712409 CB161451

BE223028 BF927782 CA489296 D87683 BM818698 AW135340 BE221490 CD673619

highest scoring ESTs for TSC1:

AF013168 AU279606 BI463204 BQ440277 BU162008 AA019928 AA215977 AA279329 AA279895 AA343088

Unigene Cluster for TSC1:

Tuberous sclerosis 1

Hs.370854 [show with all ESTs]

Unigene Representative Sequence: NM_000368

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TSC1 (see all 11 )

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2	^	3	^	4	^	5	^	6a	·	6b	^	7a	·	7b	^	8a	·	8b	^	9	^	10	^	11a	·	11b	^	12	^	13a	·	13b	^	14	^	15a	·	15b	^	16a	·
SP1:													-										-																				-
SP2:													-										-																				-
SP3:													-										-
SP4:													-										-
SP5:									-				-										-

ExUns:	16b	^	17	^	18	^	19	^	20	^	21	^	22a	·	22b	^	23
SP1:
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for TSC1

2 Ensembl transcripts including schematic representations:

ENST00000298552 ENST00000403810

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

TSC1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for TSC1

¹ / ² / ³

6 probe-sets matching TSC1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
32599_at²^{, 3}	U95-A	1	1.00	1.00	0.44	0.94	AF013168	1.00	1.00	1.00	1
55939_at²^{, 3}	U95-B	2	0.56	0.94	0.29	1.07	AI732454	0.40	1.00	0.76	1
209390_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF013168	1.00	1.00	1.00	1
233570_at²^{, 3}	U133-B	1	0.46	1.00	--	--	AJ011377	0.20	1.00	0.72	1
209390_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
233570_at²	U133Plus2	1	0.46	1.00	--	--	--	--	--	--	--

GeneDecks TSC1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TCAACAATCC

SOURCE GeneReport for Unigene cluster: Hs.370854
Expression variation in blood from EXPOLDB for TSC1
UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574
Tissue specificity: Highly expressed in skeletal muscle, followed by heart, brain, placenta,
pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for TSC1 gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	TSC1¹	--	tuberous sclerosis 1	88.23(n) 89.69(a)	480688 XM_537808.2 XP_537808.2
chimpanzee (Pan troglodytes)	TSC1¹	--	tuberous sclerosis 1	99.68(n) 99.66(a)	464818 XM_001168992.1 XP_001168992.1
cow (Bos taurus)	TSC1¹	--	tuberous sclerosis 1	88.24(n) 91.18(a)	533440 NM_001075992.1 NP_001069460.1
rat (Rattus norvegicus)	Tsc1¹	--	tuberous sclerosis 1	85.44(n) 86.65(a)	60445 NM_021854.1 NP_068626.1
mouse (Mus musculus)	Tsc1^{1, 5}	2⁵	tuberous sclerosis 1^{1, 5}	85.97(n)¹ 87.73(a)¹	64930¹ NM_022887.3¹ NP_075025.2¹ AB047561⁵ AI837319⁵ (see all 15)

About this table Species with no ortholog for TSC1

ENSEMBL Gene Tree for TSC1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/242 NCBI SNPs in TSC1 are shown (see all 242 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 98)

AB	SNP ID	Valid	Chr 9 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2809243^1,2	A,C,F,H,O	134760121(+)	`CTAGCA/C/G/T TTTCT`	1	--	ut3¹		17	NS EU EA WA NA	1140
	rs739441^1,2	A,C,F,H,O	134759936(-)	`GCAGAA/GAGAAT`	1	--	ut3¹ ese³		9	MN EU EA WA NA	816
	rs2809244^1,2	A,C,F,H,O	134760168(+)	`TGCCAA/CTTTTC`	1	--	ut3¹		12	EU EA WA NA	1052
	rs11243940^1,2	A,C,F,H	134811193(+)	`TGAAAA/GGGCCC`	2	--	ng3¹		8	EU EA WA	838
	rs6597586^1,2	A,C,F,H	134775933(+)	`AACACT/CGAGCC`	2	--	int¹ ng5¹		8	EU EA WA NA	628
	rs4962225^1,2	A,C,F,H	134810552(+)	`GCCCTA/CATAGG`	2	--	ng3¹		7	EU EA WA NA	554
	rs4962083^1,2	A,C,F,H	134810429(+)	`CAGCCC/TTCCTT`	2	--	ng3¹ trp³		4	EU EA WA	412
	rs1073123^1,2	C,F,H,O	134776725(+)	`CTGGCA/GTATTT`	2	M/T	mis¹ ese³		22	NS MN EU EA WA NA	1752
	rs739442^1,2	A,C,F,H	134759955(-)	`GTGCCC/TACGGA`	1	--	ut3¹ ese³		17	EA NA EU WA	2674
--	rs1050700^1,2	A,C,F,H	134757764(-)	`GATGGA/GGTGCC`	1	--	ut3¹		12	MN NA EU EA WA	1162

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HapMap Linkage Disequilibrium images for TSC1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 605284 disorders: 191100 606690 607341

UniProtKB/Swiss-Prot: TSC1_HUMAN, Q92574

Defects in TSC1 are the cause of tuberous sclerosis complex (TSC) [MIM:191100]. The

molecular basis of TSC is a functional impairement of the hamartin-tuberin complex. TSC is an

autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and

skin. TSC is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue

type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue

combination). Clinical symptoms can range from benign hypopigmented macules of the skin to

profound mental retardation with intractable seizures to premature death from a variety of

disease-associated causes

Defects in TSC1 may be a cause of focal cortical dysplasia of Taylor balloon cell type

(FCDBC) [MIM:607341]. FCDBC is a subtype of cortical displasias linked to chronic intractable

epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to

result from changes in proliferation, migration, differentiation, and apoptosis of neuronal

precursors and neurons during cortical development

10/79 Novoseek disease relationships for TSC1 gene (see all 79 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tuberous sclerosis	98.67	639	11307618 (4), 9803264 (3), 15072102 (3), 16095035 (3) (see all 99)
lymphangioleiomyomatosis	91.83	25	15257730 (2), 7791386 (1), 16424383 (1), 17592551 (1) (see all 19)
hamartoma	91.12	119	18292222 (3), 11468687 (2), 8950679 (2), 10806479 (2) (see all 81)
angiomyolipoma	89.95	60	10349994 (5), 19265534 (3), 15856327 (2), 18310401 (2) (see all 33)
astrocytoma subependymal giant cell	89.81	22	15072102 (4), 15624760 (2), 8928613 (1), 18673443 (1) (see all 14)
angiofibroma	86.47	30	12641776 (6), 10372905 (3), 18292222 (1), 10534239 (1) (see all 16)
kidney angiomyolipoma	83.65	6	17932460 (2), 11355103 (1), 19265534 (1)
lymphangiomyomatosis	81.87	3	18414839 (1), 16382052 (1), 11208653 (1)
rhabdomyoma	79.28	15	18414839 (2), 17357805 (2), 16877242 (2), 16095035 (1) (see all 10)
phakomatosis	78.59	17	15936480 (3), 17681840 (1), 17357805 (1), 19155728 (1) (see all 14)

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Genatlas disease: TSC1

tuberous sclerosis 1,characterized by the development of hamartomas in cerebral cortex responsible

of seizures retardation and mental disorder including autism,cortical tuber,hamartomas in other

organs,including subependymal nodules,facial angiofibromas,subungual fibromas,forehead

plaques,shagreen patches,cardiac rhabdomyomas and renal angiomyololipomas

GeneTests: TSC1

Tuberous Sclerosis Complex

Human Gene Mutation Database: TSC1
Genetic Association Database: TSC1
Human Genome Epidemiology Navigator: TSC1 (10 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

Second Gene Responsible for Tuberous Sclerosis Complex Identified

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/469 PubMed articles for TSC1 gene (see all 469 ):

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. (PubMed id 9242607)^{1, 2, 3, 4} van Slegtenhorst M.A....Kwiatkowski D.J. (1997)
Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. (PubMed id 9924605)^{3, 4, 6} Kwiatkowska J.... Kwiatkowski D.J. (1998)
The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. (PubMed id 10806479)^{1, 2, 3} Lamb R.F....Hall A. (2000)
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. (PubMed id 10533067)^{1, 3, 4} Niida Y.... Ozelius L. (1999)
Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. (PubMed id 9328481)^{1, 3, 4} Jones A.C.... Cheadle J.P. (1997)
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. (PubMed id 15798777)^{1, 3, 6} Sancak O....van den Ouweland A. (2005)
[Analysis of gene mutation in patients with tuberous sclerosis complex with polymerase chain reaction-single strand conformation polymorphism] (PubMed id 14756965)^{1, 3, 6} Feng J.H....Yang C.W. (2003)
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. (PubMed id 9580671)^{1, 3, 4} van Slegtenhorst M.A.... van der Sluijs P. (1998)
Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations. (PubMed id 10607950)^{1, 3, 4} Yamashita Y.... Hino O. (2000)
Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin. (PubMed id 10585443)^{1, 3, 4} Nellist M.... van der Sluijs P. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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Disorders
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 7248	HGNC: 12362	AceView: TSC1	Ensembl:ENSG00000165699	euGenes: HUgn7248
ECgene: TSC1	H-InvDB: TSC1

(According to HUGE)
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HUGE: KIAA0243

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for TSC1	Genetics and Cytogenetics in Oncology and Haematology
TSC variation database	http://zk.bwh.harvard.edu/ts/
GeneReviews	http://www.genetests.org/query?gene=TSC1

Licensable Technologies for TSC1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for TSC1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for TSC1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for TSC1		Antibodies for TSC1
	Explore super-pooled esiRNAs		Proteins for TSC1
	Lentivirus-delivered shRNAs for TSC1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (TSC1)
	Antibodies (TSC1)
	Chimera RNAi (TSC1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for TSC1

	Recombinant Proteins (Hamartin)
	Antibodies (Hamartin)

Search OriGene for TSC1

Search Tocris compounds for TSC1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for TSC1

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
TSC1 Gene at Home site.
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TSC1 Gene

protein-coding GIFtS: 75

Aliases &
Descriptions
for TSC1

Summaries
for TSC1

Genomic Location
for TSC1

Proteins
for TSC1

Protein Domains/
Families
for TSC1

Gene Function
for TSC1

Pathways & Interactions
for TSC1

Drugs & Compounds
for TSC1

Transcripts
for TSC1

Expression
for TSC1

Orthologs
for TSC1

Paralogs
for TSC1

SNPs/Variants
for TSC1

Disorders & Mutations
for TSC1

Medical News
for TSC1

Publications
for TSC1

Search for TSC1

Genome Databases showing TSC1

Other Databases showing TSC1

Specialized Databases showing TSC1

Licensable Technologies
for TSC1

Services
for TSC1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

TSC1 Gene

protein-coding GIFtS: 75

Aliases & Descriptionsfor TSC1

Summariesfor TSC1

Genomic Locationfor TSC1

Proteinsfor TSC1

Protein Domains/Familiesfor TSC1

Gene Functionfor TSC1

Pathways & Interactionsfor TSC1

Drugs & Compoundsfor TSC1

Transcriptsfor TSC1

Expression for TSC1

Orthologsfor TSC1

Paralogsfor TSC1

SNPs/Variantsfor TSC1

Disorders & Mutationsfor TSC1

Medical Newsfor TSC1

Publicationsfor TSC1

Search for TSC1

Genome Databases showing TSC1

Other Databases showing TSC1

Specialized Databases showing TSC1

Licensable Technologiesfor TSC1

Servicesfor TSC1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for TSC1

Summaries
for TSC1

Genomic Location
for TSC1

Proteins
for TSC1

Protein Domains/
Families
for TSC1

Gene Function
for TSC1

Pathways & Interactions
for TSC1

Drugs & Compounds
for TSC1

Transcripts
for TSC1

Expression
for TSC1

Orthologs
for TSC1

Paralogs
for TSC1

SNPs/Variants
for TSC1

Disorders & Mutations
for TSC1

Medical News
for TSC1

Publications
for TSC1

Licensable Technologies
for TSC1

Services
for TSC1