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TSC1 TSC complex subunit 1 [ Homo sapiens (human) ]

Gene ID: 7248, updated on 16-Sep-2018

Summary

Official Symbol
TSC1provided by HGNC
Official Full Name
TSC complex subunit 1provided by HGNC
Primary source
HGNC:HGNC:12362
See related
Ensembl:ENSG00000165699 MIM:605284; Vega:OTTHUMG00000020844
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAM; TSC
Summary
This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]
Expression
Ubiquitous expression in testis (RPKM 9.2), brain (RPKM 8.5) and 25 other tissues See more
Orthologs

Genomic context

See TSC1 in Genome Data Viewer
Location:
9q34.13
Exon count:
25
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (132891348..132945269, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135766735..135820094, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene DEAD-box helicase 31 Neighboring gene general transcription factor IIIC subunit 4 Neighboring gene adenylate kinase 8 Neighboring gene sperm acrosome associated 9 Neighboring gene microRNA 548aw Neighboring gene growth factor independent 1B transcriptional repressor Neighboring gene ribosomal protein L39 pseudogene 24

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TSC1 that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Focal cortical dysplasia type II
MedGen: C1846385 OMIM: 607341 GeneReviews: Not available
Compare labs
Lymphangiomyomatosis
MedGen: C0751674 OMIM: 606690 GeneReviews: Not available
Compare labs
Tuberous sclerosis 1
MedGen: C1854465 OMIM: 191100 GeneReviews: Tuberous Sclerosis Complex
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-19)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-19)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
NHGRI GWA Catalog
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
NHGRI GWA Catalog

Pathways from BioSystems

  • 4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression, organism-specific biosystem (from WikiPathways)
    4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression, organism-specific biosystemThis pathway is modeled after Figure 7 in the article ''Upstream molecular signaling pathways of p27(Kip1) expression: effects of 4-hydroxytamoxifen, dexamethasone, and retinoic acids'' (See Bibliogr...
  • AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystem (from WikiPathways)
    AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystem (from WikiPathways)
    Angiopoietin Like Protein 8 Regulatory Pathway, organism-specific biosystemThe hepatic ANGPTL8 (Angiopoietin Like Protein 8) regulatory pathway represents an up-to-date curated interactive pathway for all of the interactions from the known regulators of ANGPTL8 and updated ...
  • Autophagy - animal, organism-specific biosystem (from KEGG)
    Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Autophagy - animal, conserved biosystem (from KEGG)
    Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • BDNF-TrkB Signaling, organism-specific biosystem (from WikiPathways)
    BDNF-TrkB Signaling, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is an important neurotrophin for the regulation of synaptic activity. BDNF-TrkB signaling, TrkB being the receptor of BDNF, is involved in transcription, tran...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Choline metabolism in cancer, organism-specific biosystem (from KEGG)
    Choline metabolism in cancer, organism-specific biosystemAbnormal choline metabolism is emerging as a metabolic hallmark that is associated with oncogenesis and tumour progression. Following transformation, oncogenic signalling via pathways such as the RAS...
  • Choline metabolism in cancer, conserved biosystem (from KEGG)
    Choline metabolism in cancer, conserved biosystemAbnormal choline metabolism is emerging as a metabolic hallmark that is associated with oncogenesis and tumour progression. Following transformation, oncogenic signalling via pathways such as the RAS...
  • Energy dependent regulation of mTOR by LKB1-AMPK, organism-specific biosystem (from REACTOME)
    Energy dependent regulation of mTOR by LKB1-AMPK, organism-specific biosystemUpon formation of a trimeric LKB1:STRAD:MO25 complex, LKB1 phosphorylates and activates AMPK. This phosphorylation is immediately removed in basal conditions by PP2C, but if the cellular AMP:ATP rati...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
    Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
  • IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
    IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
  • IRS-mediated signalling, organism-specific biosystem (from REACTOME)
    IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
  • IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
    IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
  • Inhibition of TSC complex formation by PKB, organism-specific biosystem (from REACTOME)
    Inhibition of TSC complex formation by PKB, organism-specific biosystemPhosphorylation of TSC2 by PKB disrupts TSC1/TSC2 heterodimer formation (Hay & Sonenberg 2004). TSC2 function is affected in at least two ways: first, phosphorylation decreases the activity of TSC2; ...
  • Insulin Signaling, organism-specific biosystem (from WikiPathways)
    Insulin Signaling, organism-specific biosystemInsulin signaling influences energy metabolism as well as growth. The presence of insulin signals the fed state, and this signal is passed via the AKT branch, which leads to the uptake of glucose fro...
  • Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
    Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
  • Insulin signaling pathway, organism-specific biosystem (from KEGG)
    Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Insulin signaling pathway, conserved biosystem (from KEGG)
    Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
  • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
  • LKB1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    LKB1 signaling events, organism-specific biosystem
    LKB1 signaling events
  • Longevity regulating pathway, organism-specific biosystem (from KEGG)
    Longevity regulating pathway, organism-specific biosystemRegulation of longevity depends on genetic and environmental factors. Caloric restriction (CR), that is limiting food intake, is recognized in mammals as the best characterized and most reproducible ...
  • Macroautophagy, organism-specific biosystem (from REACTOME)
    Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Nanoparticle triggered autophagic cell death, organism-specific biosystem (from WikiPathways)
    Nanoparticle triggered autophagic cell death, organism-specific biosystemProgrammed cell death: autophagic cell death. Autophagy (self-eating) is a survival mechanism deployed by cells to cope with conditions of nutrient deprivation. However, unrestrained autophagy can re...
  • PI3K Cascade, organism-specific biosystem (from REACTOME)
    PI3K Cascade, organism-specific biosystem
    PI3K Cascade
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PKB-mediated events, organism-specific biosystem (from REACTOME)
    PKB-mediated events, organism-specific biosystemPKB and PDK1 are activated via membrane-bound PIP3. Activated PDK1 phosphorylates PKB, which in turn phosphorylates PDE3B. The latter hydrolyses cAMP to 5'AMP, depleting cAMP pools.
  • Phospholipase D signaling pathway, organism-specific biosystem (from KEGG)
    Phospholipase D signaling pathway, organism-specific biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
  • Phospholipase D signaling pathway, conserved biosystem (from KEGG)
    Phospholipase D signaling pathway, conserved biosystemPhospholipase D (PLD) is an essential enzyme responsible for the production of the lipid second messenger phosphatidic acid (PA), which is involved in fundamental cellular processes, including membra...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling Pathways in Glioblastoma, organism-specific biosystem (from WikiPathways)
    Signaling Pathways in Glioblastoma, organism-specific biosystemThe most frequently altered genes in glioblastoma. This pathway originally accompanied the 2008 Nature publication on the comprehensive genomic characterization of human glioblastoma genes and core p...
  • Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
    Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
  • Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
  • TBC/RABGAPs, organism-specific biosystem (from REACTOME)
    TBC/RABGAPs, organism-specific biosystemRab GTPases are peripheral membrane proteins involved in membrane trafficking. Often through their indirect interactions with coat components, motors, tethering factors and SNAREs, the Rab GTPases se...
  • TP53 Regulates Metabolic Genes, organism-specific biosystem (from REACTOME)
    TP53 Regulates Metabolic Genes, organism-specific biosystemWhile the p53 tumor suppressor protein (TP53) is known to inhibit cell growth by inducing apoptosis, senescence and cell cycle arrest, recent studies have found that p53 is also able to influence cel...
  • Target Of Rapamycin (TOR) Signaling, organism-specific biosystem (from WikiPathways)
    Target Of Rapamycin (TOR) Signaling, organism-specific biosystemTOR signaling is responsible for a cellular reaction towards nutrient and energy availability and hypoxia/stress. The mammalian Target Of Rapamycin (mTOR), a serine/threonine kinase, is the central r...
  • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
    Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • Wnt Signaling Pathway Netpath, organism-specific biosystem (from WikiPathways)
    Wnt Signaling Pathway Netpath, organism-specific biosystemWNT signal, through the canonical pathway, controls cell fate determination and through the non-canonical pathway controls cell movement and tissue polarity. The name "wnt" is a fusion of two terms, ...
  • mTOR signaling pathway, organism-specific biosystem (from KEGG)
    mTOR signaling pathway, organism-specific biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...
  • mTOR signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    mTOR signaling pathway, organism-specific biosystem
    mTOR signaling pathway
  • mTOR signaling pathway, conserved biosystem (from KEGG)
    mTOR signaling pathway, conserved biosystemThe mammalian (mechanistic) target of rapamycin (mTOR) is a highly conserved serine/threonine protein kinase, which exists in two complexes termed mTOR complex 1 (mTORC1) and 2 (mTORC2). mTORC1 conta...
  • mTOR signalling, organism-specific biosystem (from REACTOME)
    mTOR signalling, organism-specific biosystemTarget of rapamycin (mTOR) is a highly-conserved serine/threonine kinase that regulates cell growth and division in response to energy levels, growth signals, and nutrients (Zoncu et al. 2011). Contr...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0243, MGC86987

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activating protein binding IEA
Inferred from Electronic Annotation
more info
 
Hsp70 protein binding IDA
Inferred from Direct Assay
more info
PubMed 
Hsp90 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
chaperone binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
adult locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
cardiac muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell projection organization IEA
Inferred from Electronic Annotation
more info
 
cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to oxygen-glucose deprivation ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
glucose import IEA
Inferred from Electronic Annotation
more info
 
hippocampus development IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
memory T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
myelination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of TOR signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of TOR signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell size IEA
Inferred from Electronic Annotation
more info
 
negative regulation of insulin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of macroautophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of oxidative stress-induced neuron death IEA
Inferred from Electronic Annotation
more info
 
negative regulation of translation IMP
Inferred from Mutant Phenotype
more info
PubMed 
neural tube closure IEA
Inferred from Electronic Annotation
more info
 
positive regulation of focal adhesion assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of macroautophagy IEA
Inferred from Electronic Annotation
more info
 
positive regulation of stress fiber assembly IEA
Inferred from Electronic Annotation
more info
 
potassium ion transport IEA
Inferred from Electronic Annotation
more info
 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
protein stabilization IDA
Inferred from Direct Assay
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
rRNA export from nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell cycle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell-matrix adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of neuron death ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of phosphoprotein phosphatase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein kinase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
regulation of translation IDA
Inferred from Direct Assay
more info
PubMed 
response to insulin IDA
Inferred from Direct Assay
more info
PubMed 
synapse organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
TSC1-TSC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
TSC1-TSC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with actin filament IDA
Inferred from Direct Assay
more info
PubMed 
cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
chaperone complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
growth cone IEA
Inferred from Electronic Annotation
more info
 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
lipid droplet IDA
Inferred from Direct Assay
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
hamartin
Names
truncated hemartin
tuberous sclerosis 1 protein

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_012386.1 RefSeqGene

    Range
    5001..58286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_486

mRNA and Protein(s)

  1. NM_000368.4NP_000359.1  hamartin isoform 1

    See identical proteins and their annotated locations for NP_000359.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF013168, BC070032, D87683, N63914
    Consensus CDS
    CCDS6956.1
    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    Q86WV8, X5D9D2
    Related
    ENSP00000298552.3, OTTHUMP00000022439, ENST00000298552.8, OTTHUMT00000054799
    Conserved Domains (4) summary
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
    pfam05837
    Location:863957
    CENP-H; Centromere protein H (CENP-H)
    pfam14988
    Location:766932
    DUF4515; Domain of unknown function (DUF4515)
    cl21588
    Location:779881
    Snf7; Snf7
  2. NM_001162426.1NP_001155898.1  hamartin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AF013168, BC108668, D87683, DA726552, N63914
    Consensus CDS
    CCDS87703.1
    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    Q32NF0
    Related
    ENSP00000493773.1, ENST00000642617.1
    Conserved Domains (4) summary
    pfam04388
    Location:7718
    Hamartin; Hamartin protein
    pfam05837
    Location:862956
    CENP-H; Centromere protein H (CENP-H)
    pfam14988
    Location:765931
    DUF4515; Domain of unknown function (DUF4515)
    cl21588
    Location:778880
    Snf7; Snf7
  3. NM_001162427.1NP_001155899.1  hamartin isoform 4

    See identical proteins and their annotated locations for NP_001155899.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AF013168, AK303030, BI463204, D87683, N63914
    Consensus CDS
    CCDS55350.1
    UniProtKB/Swiss-Prot
    Q92574
    Related
    ENSP00000496691.1, ENST00000643072.1
    Conserved Domains (4) summary
    pfam04388
    Location:7668
    Hamartin; Hamartin protein
    pfam05837
    Location:812906
    CENP-H; Centromere protein H (CENP-H)
    pfam14988
    Location:715881
    DUF4515; Domain of unknown function (DUF4515)
    cl21588
    Location:728830
    Snf7; Snf7
  4. NM_001362177.1NP_001349106.1  hamartin isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks a 5' exon which results in the use of a downstream AUG compared to variant 1. The encoded isoform (5) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AL445645, N63914
    Conserved Domains (2) summary
    pfam04388
    Location:16598
    Hamartin; Hamartin protein
    cl25732
    Location:630850
    SMC_N; RecF/RecN/SMC N terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    132891348..132945269 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518979.2XP_011517281.1  hamartin isoform X1

    See identical proteins and their annotated locations for XP_011517281.1

    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    X5D9D2
    Conserved Domains (4) summary
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
    pfam05837
    Location:863957
    CENP-H; Centromere protein H (CENP-H)
    pfam14988
    Location:766932
    DUF4515; Domain of unknown function (DUF4515)
    cl21588
    Location:779881
    Snf7; Snf7
  2. XM_017015101.1XP_016870590.1  hamartin isoform X4

  3. XM_017015100.1XP_016870589.1  hamartin isoform X3

    Conserved Domains (2) summary
    pfam04388
    Location:16598
    Hamartin; Hamartin protein
    cl25732
    Location:630850
    SMC_N; RecF/RecN/SMC N terminal domain
  4. XM_017015099.1XP_016870588.1  hamartin isoform X3

    Conserved Domains (2) summary
    pfam04388
    Location:16598
    Hamartin; Hamartin protein
    cl25732
    Location:630850
    SMC_N; RecF/RecN/SMC N terminal domain
  5. XM_017015097.1XP_016870586.1  hamartin isoform X1

    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    X5D9D2
    Conserved Domains (4) summary
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
    pfam05837
    Location:863957
    CENP-H; Centromere protein H (CENP-H)
    pfam14988
    Location:766932
    DUF4515; Domain of unknown function (DUF4515)
    cl21588
    Location:779881
    Snf7; Snf7
  6. XM_017015096.1XP_016870585.1  hamartin isoform X1

    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    X5D9D2
    Conserved Domains (4) summary
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
    pfam05837
    Location:863957
    CENP-H; Centromere protein H (CENP-H)
    pfam14988
    Location:766932
    DUF4515; Domain of unknown function (DUF4515)
    cl21588
    Location:779881
    Snf7; Snf7
  7. XM_017015098.1XP_016870587.1  hamartin isoform X2

    Related
    ENSP00000494682.1, ENST00000644097.1
    Conserved Domains (4) summary
    pfam04388
    Location:7718
    Hamartin; Hamartin protein
    pfam05837
    Location:862956
    CENP-H; Centromere protein H (CENP-H)
    pfam14988
    Location:765931
    DUF4515; Domain of unknown function (DUF4515)
    cl21588
    Location:778880
    Snf7; Snf7
  8. XM_005272211.1XP_005272268.1  hamartin isoform X1

    See identical proteins and their annotated locations for XP_005272268.1

    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    X5D9D2
    Related
    ENSP00000496263.1, ENST00000646625.1
    Conserved Domains (4) summary
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
    pfam05837
    Location:863957
    CENP-H; Centromere protein H (CENP-H)
    pfam14988
    Location:766932
    DUF4515; Domain of unknown function (DUF4515)
    cl21588
    Location:779881
    Snf7; Snf7
  9. XM_006717271.1XP_006717334.1  hamartin isoform X1

    See identical proteins and their annotated locations for XP_006717334.1

    UniProtKB/Swiss-Prot
    Q92574
    UniProtKB/TrEMBL
    X5D9D2
    Related
    ENSP00000495158.1, ENST00000643875.1
    Conserved Domains (4) summary
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
    pfam05837
    Location:863957
    CENP-H; Centromere protein H (CENP-H)
    pfam14988
    Location:766932
    DUF4515; Domain of unknown function (DUF4515)
    cl21588
    Location:779881
    Snf7; Snf7

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001008567.1: Suppressed sequence

    Description
    NM_001008567.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
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