Tsc1 TSC complex subunit 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Tsc1provided by RGD
Official Full Name: TSC complex subunit 1provided by RGD
Primary source: RGD:620124
See related: EnsemblRapid:ENSRNOG00000011470 AllianceGenome:RGD:620124
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable ATPase inhibitor activity; heat shock protein binding activity; and protein folding chaperone. Involved in several processes, including negative regulation of GTPase activity; positive regulation of stress fiber assembly; and regulation of macroautophagy. Located in growth cone; nucleus; and perinuclear region of cytoplasm. Used to study obesity. Human ortholog(s) of this gene implicated in intellectual disability; lymphangioleiomyomatosis; tuberous sclerosis; and tuberous sclerosis 1. Orthologous to human TSC1 (TSC complex subunit 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Kidney (RPKM 55.2), Muscle (RPKM 46.2) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 3p12

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	3	NC_086021.1 (32367434..32416565)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	3	NC_051338.1 (11969547..12018591)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	3	NC_005102.4 (7219955..7269063)

Chromosome 3 - NC_086021.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

miR-27a-3p promotes inflammatory response in infectious endophthalmitis via targeting TSC1.
Title: miR-27a-3p promotes inflammatory response in infectious endophthalmitis via targeting TSC1.
Tuberous sclerosis complex-1 (TSC1) contributes to selective neuronal vulnerability in Alzheimer's disease.
Title: Tuberous sclerosis complex-1 (TSC1) contributes to selective neuronal vulnerability in Alzheimer's disease.
Tuberous sclerosis 1 (Tsc1) mediated mTORC1 activation promotes glycolysis in tubular epithelial cells in kidney fibrosis.
Title: Tuberous sclerosis 1 (Tsc1) mediated mTORC1 activation promotes glycolysis in tubular epithelial cells in kidney fibrosis.
TSC1 is selectively induced by ischemia in hippocampal CA3 neurons; in CA1 neurons, TSC1 was unaffected by ischemia but was upregulated by ischemic preconditioning preceding ischemia; overexpression of TSC1 increased resistance to oxygen glucose deprivation by inducing productive autophagy
Title: Tsc1 (hamartin) confers neuroprotection against ischemia by inducing autophagy.
Hamartin-Hsp70 plays a crucial role as a scaffolding protein that transfers the Akt signal to tuberin.
Title: Hamartin-Hsp70 interaction is necessary for Akt-dependent tuberin phosphorylation during heat shock.
findings show that endoplasmic reticulum (ER) stress regulates TSC1/TSC2 complex to limit mTOR activity
Title: Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner.
These data strongly suggest the effects of Akt/TSC1-TSC2/mTOR signal pathway on hepatocyte growth, protein synthesis and cell cycle, and prove its contribution to liver regeneration.
Title: The variation of AkT/TSC1-TSC1/mTOR signal pathway in hepatocytes after partial hepatectomy in rats.
the TSC1.TSC2 complex is regulated by pam and its ortholog highwire
Title: Pam and its ortholog highwire interact with and may negatively regulate the TSC1.TSC2 complex.
hamartin may anchor neuronal intermediate filaments to the actin cytoskeleton, which may be critical for some of the CNS functions of the hamartin-tuberin complex
Title: The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton.
The complex of this protein with tuberin negatively regulates beta-catenin signaling activity.
Title: The tuberin-hamartin complex negatively regulates beta-catenin signaling activity.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables ATPase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables ATPase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables Hsp70 protein binding	IEA Inferred from Electronic Annotation more info
enables Hsp70 protein binding	ISO Inferred from Sequence Orthology more info
enables Hsp90 protein binding	IEA Inferred from Electronic Annotation more info
enables Hsp90 protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	IEA Inferred from Electronic Annotation more info
enables protein folding chaperone	ISO Inferred from Sequence Orthology more info
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in D-glucose import	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within D-glucose import	ISO Inferred from Sequence Orthology more info
involved_in activation of GTPase activity	ISO Inferred from Sequence Orthology more info
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within adaptive immune response	ISO Inferred from Sequence Orthology more info
involved_in adult locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in associative learning	IEA Inferred from Electronic Annotation more info
involved_in associative learning	ISO Inferred from Sequence Orthology more info
involved_in cardiac muscle cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cardiac muscle cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in cell population proliferation	IEA Inferred from Electronic Annotation more info
acts_upstream_of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell projection organization	ISO Inferred from Sequence Orthology more info
involved_in cell-matrix adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in cellular response to decreased oxygen levels	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to starvation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to starvation	ISO Inferred from Sequence Orthology more info
involved_in cellular response to starvation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cerebral cortex development	ISO Inferred from Sequence Orthology more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within hippocampus development	ISO Inferred from Sequence Orthology more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within kidney development	ISO Inferred from Sequence Orthology more info
involved_in memory T cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within memory T cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in myelination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within myelination	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of ATP-dependent activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of GTPase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of TOR signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of TOR signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TORC1 signaling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TORC1 signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell size	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of cell size	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cellular response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of macroautophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nervous system development	ISO Inferred from Sequence Orthology more info
involved_in neural tube closure	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within neural tube closure	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of focal adhesion assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of focal adhesion assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of macroautophagy	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within potassium ion transport	ISO Inferred from Sequence Orthology more info
involved_in protein folding	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	IEA Inferred from Electronic Annotation more info
involved_in protein stabilization	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in regulation of focal adhesion assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of protein kinase activity	ISO Inferred from Sequence Orthology more info
involved_in regulation of stress fiber assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	ISO Inferred from Sequence Orthology more info
involved_in response to nutrient levels	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to peptide	IEP Inferred from Expression Pattern more info	PubMed
involved_in synapse organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within synapse organization	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of TSC1-TSC2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of TSC1-TSC2 complex	IEA Inferred from Electronic Annotation more info
part_of TSC1-TSC2 complex	ISO Inferred from Sequence Orthology more info
part_of TSC1-TSC2 complex	ISS Inferred from Sequence or Structural Similarity more info
located_in actin filament	IEA Inferred from Electronic Annotation more info
located_in actin filament	ISO Inferred from Sequence Orthology more info
located_in cell cortex	IEA Inferred from Electronic Annotation more info
located_in cell cortex	ISO Inferred from Sequence Orthology more info
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	IEA Inferred from Electronic Annotation more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
is_active_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
is_active_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info
part_of protein folding chaperone complex	IEA Inferred from Electronic Annotation more info
part_of protein folding chaperone complex	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: hamartin

Names: tuberous sclerosis 1 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_021854.3 → NP_068626.1 hamartin

See identical proteins and their annotated locations for NP_068626.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000003

UniProtKB/Swiss-Prot

Q9Z136

UniProtKB/TrEMBL

A0A8L2Q989, A6JTP4

Related

ENSRNOP00000016904.2, ENSRNOT00000016904.5

Conserved Domains (2) summary

COG1196
Location:705 → 971

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam04388
Location:7 → 719

Hamartin; Hamartin protein

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086021.1 Reference GRCr8

Range

32367434..32416565

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006233844.4 → XP_006233906.1 hamartin isoform X3

See identical proteins and their annotated locations for XP_006233906.1

UniProtKB/Swiss-Prot

Q9Z136

UniProtKB/TrEMBL

A0A8L2Q989, A6JTP4

Conserved Domains (2) summary

COG1196
Location:705 → 971

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam04388
Location:7 → 719

Hamartin; Hamartin protein
XM_063284474.1 → XP_063140544.1 hamartin isoform X2
XM_063284467.1 → XP_063140537.1 hamartin isoform X1
XM_063284468.1 → XP_063140538.1 hamartin isoform X1
XM_006233849.4 → XP_006233911.1 hamartin isoform X4

UniProtKB/TrEMBL

A0A8L2Q989

Conserved Domains (2) summary

pfam04388
Location:7 → 714

Hamartin; Hamartin protein

pfam15905
Location:700 → 972

HMMR_N; Hyaluronan mediated motility receptor N-terminal
XM_063284476.1 → XP_063140546.1 hamartin isoform X4
XM_006233845.4 → XP_006233907.1 hamartin isoform X3

See identical proteins and their annotated locations for XP_006233907.1

UniProtKB/Swiss-Prot

Q9Z136

UniProtKB/TrEMBL

A0A8L2Q989, A6JTP4

Conserved Domains (2) summary

COG1196
Location:705 → 971

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam04388
Location:7 → 719

Hamartin; Hamartin protein
XM_063284475.1 → XP_063140545.1 hamartin isoform X3

UniProtKB/Swiss-Prot

Q9Z136

UniProtKB/TrEMBL

A6JTP4
XM_063284472.1 → XP_063140542.1 hamartin isoform X1
XM_063284470.1 → XP_063140540.1 hamartin isoform X1
XM_063284469.1 → XP_063140539.1 hamartin isoform X1
XM_006233847.5 → XP_006233909.1 hamartin isoform X3

See identical proteins and their annotated locations for XP_006233909.1

UniProtKB/Swiss-Prot

Q9Z136

UniProtKB/TrEMBL

A0A8L2Q989, A6JTP4

Conserved Domains (2) summary

COG1196
Location:705 → 971

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam04388
Location:7 → 719

Hamartin; Hamartin protein
XM_039105772.2 → XP_038961700.1 hamartin isoform X3

UniProtKB/Swiss-Prot

Q9Z136

UniProtKB/TrEMBL

A0A8L2Q989, A6JTP4

Conserved Domains (2) summary

COG1196
Location:705 → 971

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam04388
Location:7 → 719

Hamartin; Hamartin protein
XM_063284471.1 → XP_063140541.1 hamartin isoform X1
XM_006233846.4 → XP_006233908.1 hamartin isoform X3

See identical proteins and their annotated locations for XP_006233908.1

UniProtKB/Swiss-Prot

Q9Z136

UniProtKB/TrEMBL

A0A8L2Q989, A6JTP4

Conserved Domains (2) summary

COG1196
Location:705 → 971

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam04388
Location:7 → 719

Hamartin; Hamartin protein
XM_063284477.1 → XP_063140547.1 hamartin isoform X5