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

Gene ID: 7248, updated on 10-Dec-2024

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; AllianceGenome:HGNC:12362
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) signaling 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 and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]
Expression
Ubiquitous expression in testis (RPKM 9.2), brain (RPKM 8.5) and 25 other tissues See more
Orthologs
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Genomic context

See TSC1 in Genome Data Viewer
Location:
9q34.13
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132891349..132945378, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145103162..145157190, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135766736..135820003, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene adenylate kinase 8 Neighboring gene U6 spliceosomal RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr9:135729901-135730092 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135731149-135731650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135731651-135732150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135732573-135733346 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135738096-135738827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29223 Neighboring gene sperm acrosome associated 9 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:135778941-135779625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20439 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135819875-135820608 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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
Isolated 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 2020-10-13)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-10-13)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

General gene information

Clone Names

  • KIAA0243, MGC86987

Gene Ontology Provided by GOA

Items 1 - 25 of 37
Process Evidence Code Pubs
involved_in D-glucose import  
involved_in activation of GTPase activity PubMed 
involved_in adaptive immune response  
involved_in adult locomotory behavior  
involved_in associative learning  
involved_in cardiac muscle cell differentiation  
involved_in cell population proliferation  
involved_in cell projection organization  
involved_in cell-matrix adhesion PubMed 
involved_in cellular response to decreased oxygen levels  
involved_in cellular response to starvation PubMed 
involved_in cerebral cortex development  
involved_in hippocampus development  
involved_in kidney development  
involved_in memory T cell differentiation  
involved_in myelination  
involved_in negative regulation of ATP-dependent activity PubMed 
involved_in negative regulation of TOR signaling  
involved_in negative regulation of TOR signaling PubMed 
involved_in negative regulation of TOR signaling PubMed 
involved_in negative regulation of TOR signaling  
involved_in negative regulation of TORC1 signaling PubMed 
involved_in negative regulation of cell population proliferation  
involved_in negative regulation of cell population proliferation PubMed 
involved_in negative regulation of cell size  
involved_in negative regulation of macroautophagy  
involved_in neural tube closure  
involved_in positive regulation of focal adhesion assembly PubMed 
involved_in potassium ion transport  
involved_in protein folding  
involved_in protein stabilization PubMed 
involved_in protein stabilization PubMed 
involved_in regulation of cell cycle  
involved_in regulation of cell-matrix adhesion PubMed 
involved_in regulation of stress fiber assembly PubMed 
involved_in response to insulin PubMed 
involved_in synapse organization  
Items 1 - 25 of 37
Component Evidence Code Pubs
part_of TSC1-TSC2 complex PubMed 
part_of TSC1-TSC2 complex  
part_of TSC1-TSC2 complex PubMed 
part_of TSC1-TSC2 complex PubMed 
colocalizes_with actin filament PubMed 
located_in cell cortex PubMed 
located_in cytoplasm PubMed 
located_in cytosol PubMed 
located_in cytosol  
located_in lamellipodium PubMed 
located_in lipid droplet  
is_active_in lysosomal membrane PubMed 
located_in membrane PubMed 
located_in nucleus  
located_in perinuclear region of cytoplasm  
located_in plasma membrane  
located_in postsynaptic density  
part_of protein folding chaperone complex PubMed 
part_of protein-containing complex PubMed 

General protein information

Preferred Names
hamartin
Names
tuberous sclerosis 1 protein

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.

Genomic

  1. NG_012386.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_000368.5NP_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
    B7Z897, Q5VVN5, Q92574
    UniProtKB/TrEMBL
    A0A2R8YGX7, X5D9D2
    Related
    ENSP00000298552.3, ENST00000298552.9
    Conserved Domains (2) summary
    COG1196
    Location:751971
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7719
    Hamartin; Hamartin protein
  2. NM_001162426.2NP_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, N63914
    Consensus CDS
    CCDS87703.1
    UniProtKB/TrEMBL
    A0A2R8Y5S3, A0A2R8YGL0, A0A2R8YGX7
    Related
    ENSP00000493773.1, ENST00000642617.1
    Conserved Domains (2) summary
    COG1196
    Location:750970
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7718
    Hamartin; Hamartin protein
  3. NM_001162427.2NP_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, D87683, N63914
    Consensus CDS
    CCDS55350.1
    UniProtKB/TrEMBL
    A0A2R8YGX7
    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_001362177.2NP_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
    UniProtKB/TrEMBL
    A0A2R8Y5M3, A0A2R8YGX7
    Conserved Domains (2) summary
    COG1196
    Location:630850
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:16598
    Hamartin; Hamartin protein
  5. NM_001406592.1NP_001393521.1  hamartin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL445645
    Consensus CDS
    CCDS6956.1
    UniProtKB/Swiss-Prot
    B7Z897, Q5VVN5, Q92574
    UniProtKB/TrEMBL
    A0A2R8YGX7, X5D9D2
    Related
    ENSP00000496263.1, ENST00000646625.1
  6. NM_001406593.1NP_001393522.1  hamartin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL445645
    Consensus CDS
    CCDS6956.1
    UniProtKB/Swiss-Prot
    B7Z897, Q5VVN5, Q92574
    UniProtKB/TrEMBL
    A0A2R8YGX7, X5D9D2
    Related
    ENSP00000495158.1, ENST00000643875.1
  7. NM_001406594.1NP_001393523.1  hamartin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL445645
    Consensus CDS
    CCDS6956.1
    UniProtKB/Swiss-Prot
    B7Z897, Q5VVN5, Q92574
    UniProtKB/TrEMBL
    A0A2R8YGX7, X5D9D2
    Related
    ENSP00000495533.2, ENST00000490179.4
  8. NM_001406595.1NP_001393524.1  hamartin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL445645
    Consensus CDS
    CCDS6956.1
    UniProtKB/Swiss-Prot
    B7Z897, Q5VVN5, Q92574
    UniProtKB/TrEMBL
    A0A2R8YGX7, X5D9D2
  9. NM_001406596.1NP_001393525.1  hamartin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/Swiss-Prot
    B7Z897, Q5VVN5, Q92574
    UniProtKB/TrEMBL
    A0A2R8YGX7, X5D9D2
  10. NM_001406597.1NP_001393526.1  hamartin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL445645
    Consensus CDS
    CCDS87703.1
    UniProtKB/TrEMBL
    A0A2R8Y5S3, A0A2R8YGL0, A0A2R8YGX7
    Related
    ENSP00000494682.1, ENST00000644097.1
  11. NM_001406598.1NP_001393527.1  hamartin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL445645
    Consensus CDS
    CCDS87703.1
    UniProtKB/TrEMBL
    A0A2R8Y5S3, A0A2R8YGL0, A0A2R8YGX7
  12. NM_001406599.1NP_001393528.1  hamartin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL445645
    Consensus CDS
    CCDS87703.1
    UniProtKB/TrEMBL
    A0A2R8Y5S3, A0A2R8YGL0, A0A2R8YGX7
  13. NM_001406600.1NP_001393529.1  hamartin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL445645
    Consensus CDS
    CCDS87703.1
    UniProtKB/TrEMBL
    A0A2R8Y5S3, A0A2R8YGL0, A0A2R8YGX7
  14. NM_001406601.1NP_001393530.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5N2, A0A2R8YGX7
    Related
    ENSP00000494685.1, ENST00000643583.1
  15. NM_001406602.1NP_001393531.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5N2, A0A2R8YGX7
  16. NM_001406603.1NP_001393532.1  hamartin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YFV7, A0A2R8YGX7
  17. NM_001406604.1NP_001393533.1  hamartin isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YFV7, A0A2R8YGX7
    Related
    ENSP00000496772.1, ENST00000642627.1
  18. NM_001406605.1NP_001393534.1  hamartin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y6S1, A0A2R8YGX7
    Related
    ENSP00000495428.2, ENST00000644184.2
  19. NM_001406606.1NP_001393535.1  hamartin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y6S1, A0A2R8YGX7
  20. NM_001406607.1NP_001393536.1  hamartin isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y6S1, A0A2R8YGX7
  21. NM_001406608.1NP_001393537.1  hamartin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YGX7
  22. NM_001406609.1NP_001393538.1  hamartin isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YGX7
  23. NM_001406610.1NP_001393539.1  hamartin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YGX7
  24. NM_001406611.1NP_001393540.1  hamartin isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YD74, A0A2R8YGX7
  25. NM_001406612.1NP_001393541.1  hamartin isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YD74, A0A2R8YGX7
    Related
    ENSP00000493639.2, ENST00000645129.2
  26. NM_001406613.1NP_001393542.1  hamartin isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YGX7
  27. NM_001406614.1NP_001393543.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5M3, A0A2R8YGX7
  28. NM_001406615.1NP_001393544.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5M3, A0A2R8YGX7
  29. NM_001406616.1NP_001393545.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5M3, A0A2R8YGX7
  30. NM_001406617.1NP_001393546.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5M3, A0A2R8YGX7
  31. NM_001406618.1NP_001393547.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5M3, A0A2R8YGX7
    Related
    ENSP00000494916.2, ENST00000643691.2
  32. NM_001406619.1NP_001393548.1  hamartin isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8Y5M3, A0A2R8YGX7
  33. NM_001406620.1NP_001393549.1  hamartin isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YGX7
  34. NM_001406621.1NP_001393550.1  hamartin isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YGX7
  35. NM_001406622.1NP_001393551.1  hamartin isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YGX7
    Related
    ENST00000645904.2
  36. NM_001406623.1NP_001393552.1  hamartin isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YGX7
  37. NM_001406624.1NP_001393553.1  hamartin isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YGX7
  38. NM_001406625.1NP_001393554.1  hamartin isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL445645
    UniProtKB/TrEMBL
    A0A2R8YGX7
  39. NM_001406626.1NP_001393555.1  hamartin isoform 14

    Status: REVIEWED

    Source sequence(s)
    AL445645
  40. NM_001406627.1NP_001393556.1  hamartin isoform 15

    Status: REVIEWED

    Source sequence(s)
    AL445645
  41. NM_001406628.1NP_001393557.1  hamartin isoform 15

    Status: REVIEWED

    Source sequence(s)
    AL445645
  42. NM_001406629.1NP_001393558.1  hamartin isoform 16

    Status: REVIEWED

    Source sequence(s)
    AL445645
  43. NM_001406630.1NP_001393559.1  hamartin isoform 16

    Status: REVIEWED

    Source sequence(s)
    AL445645

RNA

  1. NR_176214.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445645
    Related
    ENST00000643625.2
  2. NR_176215.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445645
  3. NR_176216.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445645
  4. NR_176217.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445645
  5. NR_176218.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL445645
    Related
    ENST00000642261.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    132891349..132945378 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518979.3XP_011517281.1  hamartin isoform X1

    See identical proteins and their annotated locations for XP_011517281.1

    UniProtKB/Swiss-Prot
    B7Z897, Q5VVN5, Q92574
    UniProtKB/TrEMBL
    A0A2R8YGX7, X5D9D2
    Related
    ENSP00000495830.2, ENST00000646440.2
    Conserved Domains (2) summary
    COG1196
    Location:751971
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam04388
    Location:7719
    Hamartin; Hamartin protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    145103162..145157190 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363718.1XP_054219693.1  hamartin isoform X1

    UniProtKB/Swiss-Prot
    B7Z897, Q5VVN5, Q92574
    UniProtKB/TrEMBL
    A0A2R8YGX7, X5D9D2

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