KEGG   Homo sapiens (human): 7248Help
Entry
7248              CDS       T01001                                 

Gene name
TSC1, LAM, TSC
Definition
(RefSeq) TSC complex subunit 1
  KO
K07206  tuberous sclerosis 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04072  Phospholipase D signaling pathway
hsa04140  Autophagy - animal
hsa04150  mTOR signaling pathway
hsa04151  PI3K-Akt signaling pathway
hsa04152  AMPK signaling pathway
hsa04211  Longevity regulating pathway
hsa04218  Cellular senescence
hsa04714  Thermogenesis
hsa04910  Insulin signaling pathway
hsa05165  Human papillomavirus infection
hsa05231  Choline metabolism in cancer
Disease
H00896  Lymphangioleiomyomatosis (LAM)
H00915  Tuberous sclerosis complex (TSC)
H01251  Focal cortical dysplasia of Taylor
H01691  Renal angiomyolipoma
H01692  Subependymal giant cell astrocytoma (SEGA)
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04072 Phospholipase D signaling pathway
    7248 (TSC1)
   04151 PI3K-Akt signaling pathway
    7248 (TSC1)
   04152 AMPK signaling pathway
    7248 (TSC1)
   04150 mTOR signaling pathway
    7248 (TSC1)
 Cellular Processes
  Transport and catabolism
   04140 Autophagy - animal
    7248 (TSC1)
  Cell growth and death
   04218 Cellular senescence
    7248 (TSC1)
 Organismal Systems
  Endocrine system
   04910 Insulin signaling pathway
    7248 (TSC1)
  Aging
   04211 Longevity regulating pathway - mammal
    7248 (TSC1)
  Environmental adaptation
   04714 Thermogenesis
    7248 (TSC1)
 Human Diseases
  Cancers
   05231 Choline metabolism in cancer
    7248 (TSC1)
  Infectious diseases
   05163 Human cytomegalovirus infection
    7248 (TSC1)
   05165 Human papillomavirus infection
    7248 (TSC1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Hamartin
Motif
Other DBs
NCBI-GeneID: 7248
NCBI-ProteinID: NP_000359
OMIM: 605284
HGNC: 12362
Ensembl: ENSG00000165699
Vega: OTTHUMG00000020844
Pharos: Q92574(Tbio)
UniProt: Q92574 Q86WV8 X5D9D2
Structure
PDB: 

Position
9q34.13
AA seq 1164 aa AA seqDB search
MAQQANVGELLAMLDSPMLGVRDDVTAVFKENLNSDRGPMLVNTLVDYYLETSSQPALHI
LTTLQEPHDKHLLDRINEYVGKAATRLSILSLLGHVIRLQPSWKHKLSQAPLLPSLLKCL
KMDTDVVVLTTGVLVLITMLPMIPQSGKQHLLDFFDIFGRLSSWCLKKPGHVAEVYLVHL
HASVYALFHRLYGMYPCNFVSFLRSHYSMKENLETFEEVVKPMMEHVRIHPELVTGSKDH
ELDPRRWKRLETHDVVIECAKISLDPTEASYEDGYSVSHQISARFPHRSADVTTSPYADT
QNSYGCATSTPYSTSRLMLLNMPGQLPQTLSSPSTRLITEPPQATLWSPSMVCGMTTPPT
SPGNVPPDLSHPYSKVFGTTAGGKGTPLGTPATSPPPAPLCHSDDYVHISLPQATVTPPR
KEERMDSARPCLHRQHHLLNDRGSEEPPGSKGSVTLSDLPGFLGDLASEEDSIEKDKEEA
AISRELSEITTAEAEPVVPRGGFDSPFYRDSLPGSQRKTHSAASSSQGASVNPEPLHSSL
DKLGPDTPKQAFTPIDLPCGSADESPAGDRECQTSLETSIFTPSPCKIPPPTRVGFGSGQ
PPPYDHLFEVALPKTAHHFVIRKTEELLKKAKGNTEEDGVPSTSPMEVLDRLIQQGADAH
SKELNKLPLPSKSVDWTHFGGSPPSDEIRTLRDQLLLLHNQLLYERFKRQQHALRNRRLL
RKVIKAAALEEHNAAMKDQLKLQEKDIQMWKVSLQKEQARYNQLQEQRDTMVTKLHSQIR
QLQHDREEFYNQSQELQTKLEDCRNMIAELRIELKKANNKVCHTELLLSQVSQKLSNSES
VQQQMEFLNRQLLVLGEVNELYLEQLQNKHSDTTKEVEMMKAAYRKELEKNRSHVLQQTQ
RLDTSQKRILELESHLAKKDHLLLEQKKYLEDVKLQARGQLQAAESRYEAQKRITQVFEL
EILDLYGRLEKDGLLKKLEEEKAEAAEAAEERLDCCNDGCSDSMVGHNEEASGHNGETKT
PRPSSARGSSGSRGGGGSSSSSSELSTPEKPPHQRAGPFSSRWETTMGEASASIPTTVGS
LPSSKSFLGMKARELFRNKSESQCDEDGMTSSLSESLKTELGKDLGVEAKIPLNLDGPHP
SPPTPDSVGQLHIMDYNETHHEHS
NT seq 3495 nt NT seq  +upstreamnt  +downstreamnt
atggcccaacaagcaaatgtcggggagcttcttgccatgctggactcccccatgctgggt
gtgcgggacgacgtgacagctgtctttaaagagaacctcaattctgaccgtggccctatg
cttgtaaacaccttggtggattattacctggaaaccagctctcagccggcattgcacatc
ctgaccaccttgcaagagccacatgacaagcacctcttggacaggattaacgaatatgtg
ggcaaagccgccactcgtttatccatcctctcgttactgggtcatgtcataagactgcag
ccatcttggaagcataagctctctcaagcacctcttttgccttctttactaaaatgtctc
aagatggacactgacgtcgttgtcctcacaacaggcgtcttggtgttgataaccatgcta
ccaatgattccacagtctgggaaacagcatcttcttgatttctttgacatttttggccgt
ctgtcatcatggtgcctgaagaaaccaggccacgtggcggaagtctatctcgtccatctc
catgccagtgtgtacgcactctttcatcgcctttatggaatgtacccttgcaacttcgtc
tcctttttgcgttctcattacagtatgaaagaaaacctggagacttttgaagaagtggtc
aagccaatgatggagcatgtgcgaattcatccggaattagtgactggatccaaggaccat
gaactggaccctcgaaggtggaagagattagaaactcatgatgttgtgatcgagtgtgcc
aaaatctctctggatcccacagaagcctcatatgaagatggctattctgtgtctcaccaa
atctcagcccgctttcctcatcgttcagccgatgtcaccaccagcccttatgctgacaca
cagaatagctatgggtgtgctacttctaccccttactccacgtctcggctgatgttgtta
aatatgccagggcagctacctcagactctgagttccccatcgacacggctgataactgaa
ccaccacaagctactctttggagcccatctatggtttgtggtatgaccactcctccaact
tctcctggaaatgtcccacctgatctgtcacacccttacagtaaagtctttggtacaact
gcaggtggaaaaggaactcctctgggaaccccagcaacctctcctcctccagccccactc
tgtcattcggatgactacgtgcacatttcactcccccaggccacagtcacaccccccagg
aaggaagagagaatggattctgcaagaccatgtctacacagacaacaccatcttctgaat
gacagaggatcagaagagccacctggcagcaaaggttctgtcactctaagtgatcttcca
gggtttttaggtgatctggcctctgaagaagatagtattgaaaaagataaagaagaagct
gcaatatctagagaactttctgagatcaccacagcagaggcagagcctgtggttcctcga
ggaggctttgactctcccttttaccgagacagtctcccaggttctcagcggaagacccac
tcggcagcctccagttctcagggcgccagcgtgaaccctgagcctttacactcctccctg
gacaagcttgggcctgacacaccaaagcaagcctttactcccatagacctgccctgcggc
agtgctgatgaaagccctgcgggagacagggaatgccagacttctttggagaccagtatc
ttcactcccagtccttgtaaaattccacctccgacgagagtgggctttggaagcgggcag
cctcccccgtatgatcatctttttgaggtggcattgccaaagacagcccatcattttgtc
atcaggaagactgaggagctgttaaagaaagcaaaaggaaacacagaggaagatggtgtg
ccctctacctccccaatggaagtgctggacagactgatacagcagggagcagacgcgcac
agcaaggagctgaacaagttgcctttacccagcaagtctgtcgactggacccactttgga
ggctctcctccttcagatgagatccgcaccctccgagaccagttgcttttactgcacaac
cagttactctatgagcgttttaagaggcagcagcatgccctccggaacaggcggctcctc
cgcaaggtgatcaaagcagcagctctggaggaacataatgctgccatgaaagatcagttg
aagttacaagagaaggacatccagatgtggaaggttagtctgcagaaagaacaagctaga
tacaatcagctccaggagcagcgtgacactatggtaaccaagctccacagccagatcaga
cagctgcagcatgaccgagaggaattctacaaccagagccaggaattacagacgaagctg
gaggactgcaggaacatgattgcggagctgcggatagaactgaagaaggccaacaacaag
gtgtgtcacactgagctgctgctcagtcaggtttcccaaaagctctcaaacagtgagtcg
gtccagcagcagatggagttcttgaacaggcagctgttggttcttggggaggtcaacgag
ctctatttggaacaactgcagaacaagcactcagataccacaaaggaagtagaaatgatg
aaagccgcctatcggaaagagctagaaaaaaacagaagccatgttctccagcagactcag
aggcttgatacctcccaaaaacggattttggaactggaatctcacctggccaagaaagac
caccttcttttggaacagaagaaatatctagaggatgtcaaactccaggcaagaggacag
ctgcaggccgcagagagcaggtatgaggctcagaaaaggataacccaggtgtttgaattg
gagatcttagatttatatggcaggttggagaaagatggcctcctgaaaaaacttgaagaa
gaaaaagcagaagcagctgaagcagcagaagaaaggcttgactgttgtaatgacgggtgc
tcagattccatggtagggcacaatgaagaggcatctggccacaacggtgagaccaagacc
cccaggcccagcagcgcccggggcagtagtggaagcagaggtggtggaggcagcagcagc
agcagcagcgagctttctaccccagagaaacccccacaccagagggcaggcccattcagc
agtcggtgggagacgactatgggagaagcgtctgccagcatccccaccactgtgggctca
cttcccagttcaaaaagcttcctgggtatgaaggctcgagagttatttcgtaataagagc
gagagccagtgtgatgaggacggcatgaccagtagcctttctgagagcctaaagacagaa
ctgggcaaagacttgggtgtggaagccaagattcccctgaacctagatggccctcacccg
tctcccccgaccccggacagtgttggacagctacatatcatggactacaatgagactcat
catgaacacagctaa

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