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

Gene name
TSC1, LAM, TSC
Definition
tuberous sclerosis 1
Orthology
K07206  
tuberous sclerosis 1
Organism
hsa  Homo sapiens (human)
Pathway
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Insulin signaling pathway
Disease
H00896  
Lymphangioleiomyomatosis (LAM)
H00915  
Tuberous sclerosis complex (TSC)
H01251  
Focal cortical dysplasia of Taylor
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Environmental Information Processing
  Signal transduction
   04151 PI3K-Akt signaling pathway
    7248 (TSC1)
   04152 AMPK signaling pathway
    7248 (TSC1)
   04150 mTOR signaling pathway
    7248 (TSC1)
 Organismal Systems
  Endocrine system
   04910 Insulin signaling pathway
    7248 (TSC1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: 
Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Position
9q34
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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