Tsc1 TSC complex subunit 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tsc1provided by MGI
Official Full Name: TSC complex subunit 1provided by MGI
Primary source: MGI:MGI:1929183
See related: Ensembl:ENSMUSG00000026812 AllianceGenome:MGI:1929183
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables ATPase inhibitor activity and protein N-terminus binding activity. Involved in associative learning; negative regulation of ATPase activity; and protein stabilization. Acts upstream of or within several processes, including animal organ development; negative regulation of cell size; and nervous system development. Located in cytoplasm. Is active in postsynaptic density. Is expressed in several structures, including central nervous system; genitourinary system; hepatic primordium; liver; and retina. Used to study anterior segment dysgenesis; autism spectrum disorder; autosomal recessive polycystic kidney disease; and tuberous sclerosis. 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, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 10.9), whole brain E14.5 (RPKM 9.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 19.38 cM

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (28531005..28581183)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (28640993..28691172)

Chromosome 2 - NC_000068.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function.
Title: The mTOR pathway genes MTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function.
Persistent mTORC1 activation due to loss of liver tuberous sclerosis complex 1 promotes liver injury in alcoholic hepatitis.
Title: Persistent mTORC1 activation due to loss of liver tuberous sclerosis complex 1 promotes liver injury in alcoholic hepatitis.
miR-926-3p influences myocardial injury in septic mice through regulation of mTOR signaling pathway by targeting TSC1.
Title: miR-926-3p influences myocardial injury in septic mice through regulation of mTOR signaling pathway by targeting TSC1.
Off-target activity of the 8 kb Dmp1-Cre results in the deletion of Tsc1 gene in mouse intestinal mesenchyme.
Title: Off-target activity of the 8 kb Dmp1-Cre results in the deletion of Tsc1 gene in mouse intestinal mesenchyme.
Activation of eIF4E-binding-protein-1 rescues mTORC1-induced sarcopenia by expanding lysosomal degradation capacity.
Title: Activation of eIF4E-binding-protein-1 rescues mTORC1-induced sarcopenia by expanding lysosomal degradation capacity.
Simultaneous loss of TSC1 and DEPDC5 in skeletal and cardiac muscles produces early-onset myopathy and cardiac dysfunction associated with oxidative damage and SQSTM1/p62 accumulation.
Title: Simultaneous loss of TSC1 and DEPDC5 in skeletal and cardiac muscles produces early-onset myopathy and cardiac dysfunction associated with oxidative damage and SQSTM1/p62 accumulation.
Possible Involvement of DNA Methylation in TSC1 Gene Expression in Neuroprotection Induced by Hypoxic Preconditioning.
Title: Possible Involvement of DNA Methylation in TSC1 Gene Expression in Neuroprotection Induced by Hypoxic Preconditioning.
The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth.
Title: The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth.
Deep phenotyping reveals movement phenotypes in mouse neurodevelopmental models.
Title: Deep phenotyping reveals movement phenotypes in mouse neurodevelopmental models.
Loss of Tsc1 from striatal direct pathway neurons impairs endocannabinoid-LTD and enhances motor routine learning.
Title: Loss of Tsc1 from striatal direct pathway neurons impairs endocannabinoid-LTD and enhances motor routine learning.

Submit: New GeneRIF Correction See all GeneRIFs (168)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ATPase inhibitor activity	ISO Inferred from Sequence Orthology more info
enables Hsp70 protein binding	ISO Inferred from Sequence Orthology 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 binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adaptive immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in adult locomotory behavior	ISO Inferred from Sequence Orthology more info
involved_in associative learning	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cardiac muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell projection organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion	ISO Inferred from Sequence Orthology more info
involved_in cellular response to decreased oxygen levels	ISO Inferred from Sequence Orthology more info
involved_in cellular response to starvation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebral cortex development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryo development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glucose import	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hippocampus development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within memory T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within myelination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ATP-dependent activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of ATP-dependent activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TOR signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of TOR signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of TORC1 signaling	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell population proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of cell size	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of cell size	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cellular response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of macroautophagy	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of translation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neural tube closure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of focal adhesion assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of macroautophagy	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within potassium ion transport	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within potassium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein stabilization	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in regulation of phosphoprotein phosphatase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of protein kinase activity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of stress fiber assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of translation	ISO Inferred from Sequence Orthology more info
involved_in response to insulin	ISO Inferred from Sequence Orthology more info
involved_in ribosomal subunit export from nucleus	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within synapse organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of TSC1-TSC2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of TSC1-TSC2 complex	ISO Inferred from Sequence Orthology more info
colocalizes_with actin filament	ISO Inferred from Sequence Orthology more info
located_in cell cortex	ISO Inferred from Sequence Orthology more info
located_in cell projection	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	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 growth cone	ISO Inferred from Sequence Orthology more info
located_in lamellipodium	ISO Inferred from Sequence Orthology more info
located_in lipid droplet	ISO Inferred from Sequence Orthology more info
is_active_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density	EXP Inferred from Experiment more info	PubMed
is_active_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
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_001289575.2 → NP_001276504.1 hamartin isoform 1

See identical proteins and their annotated locations for NP_001276504.1

Status: VALIDATED

Source sequence(s)

AL731851

Consensus CDS

CCDS79762.1

UniProtKB/Swiss-Prot

A2AHW1, Q3UHF2, Q7TS92, Q80U55, Q924U7, Q9EP53

Related

ENSMUSP00000109500.2, ENSMUST00000113869.8

Conserved Domains (4) summary

pfam04388
Location:7 → 716

Hamartin; Hamartin protein

pfam11180
Location:701 → 780

DUF2968; Protein of unknown function (DUF2968)

pfam14988
Location:763 → 929

DUF4515; Domain of unknown function (DUF4515)

cl21588
Location:776 → 878

Snf7; Snf7
NM_001289576.2 → NP_001276505.1 hamartin isoform 3

See identical proteins and their annotated locations for NP_001276505.1

Status: VALIDATED

Source sequence(s)

AL731851

Consensus CDS

CCDS71013.1

UniProtKB/Swiss-Prot

Q9EP53

Related

ENSMUSP00000109498.3, ENSMUST00000113867.9

Conserved Domains (2) summary

COG1196
Location:696 → 962

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

pfam04388
Location:7 → 710

Hamartin; Hamartin protein
NM_001421615.1 → NP_001408544.1 hamartin isoform 2

Status: VALIDATED

Source sequence(s)

AL731851
NM_001421616.1 → NP_001408545.1 hamartin isoform 3

Status: VALIDATED

Source sequence(s)

AL731851
NM_022887.5 → NP_075025.2 hamartin isoform 2

See identical proteins and their annotated locations for NP_075025.2

Status: VALIDATED

Source sequence(s)

AL731851

Consensus CDS

CCDS15844.1

UniProtKB/Swiss-Prot

Q9EP53

Related

ENSMUSP00000028155.6, ENSMUST00000028155.12

Conserved Domains (2) summary

COG1196
Location:701 → 967

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

pfam04388
Location:7 → 715

Hamartin; Hamartin protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

28531005..28581183

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498221.4 → XP_006498284.1 hamartin isoform X1

See identical proteins and their annotated locations for XP_006498284.1

Conserved Domains (2) summary

COG1196
Location:715 → 981

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

pfam04388
Location:7 → 729

Hamartin; Hamartin protein
XM_006498220.2 → XP_006498283.1 hamartin isoform X1

See identical proteins and their annotated locations for XP_006498283.1

Conserved Domains (2) summary

COG1196
Location:715 → 981

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

pfam04388
Location:7 → 729

Hamartin; Hamartin protein
XM_006498223.3 → XP_006498286.1 hamartin isoform X2

Conserved Domains (2) summary

COG1196
Location:710 → 976

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

pfam04388
Location:7 → 724

Hamartin; Hamartin protein
XM_011239143.4 → XP_011237445.1 hamartin isoform X1

See identical proteins and their annotated locations for XP_011237445.1

Conserved Domains (2) summary

COG1196
Location:715 → 981

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

pfam04388
Location:7 → 729

Hamartin; Hamartin protein
XM_006498222.4 → XP_006498285.1 hamartin isoform X1

See identical proteins and their annotated locations for XP_006498285.1

Conserved Domains (2) summary

COG1196
Location:715 → 981

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

pfam04388
Location:7 → 729

Hamartin; Hamartin protein
XM_030251935.1 → XP_030107795.1 hamartin isoform X3

Conserved Domains (2) summary

COG1196
Location:701 → 967

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

pfam04388
Location:7 → 715

Hamartin; Hamartin protein
XM_011239142.4 → XP_011237444.1 hamartin isoform X1

See identical proteins and their annotated locations for XP_011237444.1

Conserved Domains (2) summary

COG1196
Location:715 → 981

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

pfam04388
Location:7 → 729

Hamartin; Hamartin protein
XM_030251936.2 → XP_030107796.1 hamartin isoform X3

Conserved Domains (2) summary

COG1196
Location:701 → 967

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

pfam04388
Location:7 → 715

Hamartin; Hamartin protein