KEGG   Homo sapiens (human): 4851Help
Entry
4851              CDS       T01001                                 

Gene name
NOTCH1, AOS5, AOVD1, TAN1, hN1
Definition
(RefSeq) notch 1
  KO
K02599  Notch 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa01522  Endocrine resistance
hsa04330  Notch signaling pathway
hsa04658  Th1 and Th2 cell differentiation
hsa04919  Thyroid hormone signaling pathway
hsa05020  Prion diseases
hsa05165  Human papillomavirus infection
hsa05200  Pathways in cancer
hsa05206  MicroRNAs in cancer
hsa05224  Breast cancer
Module
hsa_M00682  Notch signaling
Network
N00086  Notch signaling pathway
N00087  NOTCH-overexpression to Notch signaling pathway
N00380  HPV E6 to Notch signaling pathway
N00381  HPV E6 to Notch signaling pathway
N00382  HPV E6 to Notch signaling pathway
Disease
H00002  T lymphoblastic leukemia/lymphoma
H00031  Breast cancer
H00554  Bicuspid aortic valve
H01413  Adams-Oliver syndrome
Drug target
Crenigacestat: D11151
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04330 Notch signaling pathway
    4851 (NOTCH1)
 09150 Organismal Systems
  09151 Immune system
   04658 Th1 and Th2 cell differentiation
    4851 (NOTCH1)
  09152 Endocrine system
   04919 Thyroid hormone signaling pathway
    4851 (NOTCH1)
 09160 Human Diseases
  09161 Cancers: Overview
   05200 Pathways in cancer
    4851 (NOTCH1)
   05206 MicroRNAs in cancer
    4851 (NOTCH1)
  09162 Cancers: Specific types
   05224 Breast cancer
    4851 (NOTCH1)
  09164 Neurodegenerative diseases
   05020 Prion diseases
    4851 (NOTCH1)
  09172 Infectious diseases: Viral
   05165 Human papillomavirus infection
    4851 (NOTCH1)
  09176 Drug resistance: Antineoplastic
   01522 Endocrine resistance
    4851 (NOTCH1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: EGF hEGF EGF_CA EGF_2 Ank_2 Notch Ank NOD DUF3454 NODP Ank_5 Ank_4 Ank_3 EGF_3
Motif
Other DBs
NCBI-GeneID: 4851
NCBI-ProteinID: NP_060087
OMIM: 190198
HGNC: 7881
Ensembl: ENSG00000148400
Vega: OTTHUMG00000020935
Pharos: P46531(Tchem)
UniProt: P46531
Structure
PDB: 

Position
9q34.3
AA seq 2555 aa AA seqDB search
MPPLLAPLLCLALLPALAARGPRCSQPGETCLNGGKCEAANGTEACVCGGAFVGPRCQDP
NPCLSTPCKNAGTCHVVDRRGVADYACSCALGFSGPLCLTPLDNACLTNPCRNGGTCDLL
TLTEYKCRCPPGWSGKSCQQADPCASNPCANGGQCLPFEASYICHCPPSFHGPTCRQDVN
ECGQKPGLCRHGGTCHNEVGSYRCVCRATHTGPNCERPYVPCSPSPCQNGGTCRPTGDVT
HECACLPGFTGQNCEENIDDCPGNNCKNGGACVDGVNTYNCRCPPEWTGQYCTEDVDECQ
LMPNACQNGGTCHNTHGGYNCVCVNGWTGEDCSENIDDCASAACFHGATCHDRVASFYCE
CPHGRTGLLCHLNDACISNPCNEGSNCDTNPVNGKAICTCPSGYTGPACSQDVDECSLGA
NPCEHAGKCINTLGSFECQCLQGYTGPRCEIDVNECVSNPCQNDATCLDQIGEFQCICMP
GYEGVHCEVNTDECASSPCLHNGRCLDKINEFQCECPTGFTGHLCQYDVDECASTPCKNG
AKCLDGPNTYTCVCTEGYTGTHCEVDIDECDPDPCHYGSCKDGVATFTCLCRPGYTGHHC
ETNINECSSQPCRHGGTCQDRDNAYLCFCLKGTTGPNCEINLDDCASSPCDSGTCLDKID
GYECACEPGYTGSMCNINIDECAGNPCHNGGTCEDGINGFTCRCPEGYHDPTCLSEVNEC
NSNPCVHGACRDSLNGYKCDCDPGWSGTNCDINNNECESNPCVNGGTCKDMTSGYVCTCR
EGFSGPNCQTNINECASNPCLNQGTCIDDVAGYKCNCLLPYTGATCEVVLAPCAPSPCRN
GGECRQSEDYESFSCVCPTGWQGQTCEVDINECVLSPCRHGASCQNTHGGYRCHCQAGYS
GRNCETDIDDCRPNPCHNGGSCTDGINTAFCDCLPGFRGTFCEEDINECASDPCRNGANC
TDCVDSYTCTCPAGFSGIHCENNTPDCTESSCFNGGTCVDGINSFTCLCPPGFTGSYCQH
DVNECDSQPCLHGGTCQDGCGSYRCTCPQGYTGPNCQNLVHWCDSSPCKNGGKCWQTHTQ
YRCECPSGWTGLYCDVPSVSCEVAAQRQGVDVARLCQHGGLCVDAGNTHHCRCQAGYTGS
YCEDLVDECSPSPCQNGATCTDYLGGYSCKCVAGYHGVNCSEEIDECLSHPCQNGGTCLD
LPNTYKCSCPRGTQGVHCEINVDDCNPPVDPVSRSPKCFNNGTCVDQVGGYSCTCPPGFV
GERCEGDVNECLSNPCDARGTQNCVQRVNDFHCECRAGHTGRRCESVINGCKGKPCKNGG
TCAVASNTARGFICKCPAGFEGATCENDARTCGSLRCLNGGTCISGPRSPTCLCLGPFTG
PECQFPASSPCLGGNPCYNQGTCEPTSESPFYRCLCPAKFNGLLCHILDYSFGGGAGRDI
PPPLIEEACELPECQEDAGNKVCSLQCNNHACGWDGGDCSLNFNDPWKNCTQSLQCWKYF
SDGHCDSQCNSAGCLFDGFDCQRAEGQCNPLYDQYCKDHFSDGHCDQGCNSAECEWDGLD
CAEHVPERLAAGTLVVVVLMPPEQLRNSSFHFLRELSRVLHTNVVFKRDAHGQQMIFPYY
GREEELRKHPIKRAAEGWAAPDALLGQVKASLLPGGSEGGRRRRELDPMDVRGSIVYLEI
DNRQCVQASSQCFQSATDVAAFLGALASLGSLNIPYKIEAVQSETVEPPPPAQLHFMYVA
AAAFVLLFFVGCGVLLSRKRRRQHGQLWFPEGFKVSEASKKKRREPLGEDSVGLKPLKNA
SDGALMDDNQNEWGDEDLETKKFRFEEPVVLPDLDDQTDHRQWTQQHLDAADLRMSAMAP
TPPQGEVDADCMDVNVRGPDGFTPLMIASCSGGGLETGNSEEEEDAPAVISDFIYQGASL
HNQTDRTGETALHLAARYSRSDAAKRLLEASADANIQDNMGRTPLHAAVSADAQGVFQIL
IRNRATDLDARMHDGTTPLILAARLAVEGMLEDLINSHADVNAVDDLGKSALHWAAAVNN
VDAAVVLLKNGANKDMQNNREETPLFLAAREGSYETAKVLLDHFANRDITDHMDRLPRDI
AQERMHHDIVRLLDEYNLVRSPQLHGAPLGGTPTLSPPLCSPNGYLGSLKPGVQGKKVRK
PSSKGLACGSKEAKDLKARRKKSQDGKGCLLDSSGMLSPVDSLESPHGYLSDVASPPLLP
SPFQQSPSVPLNHLPGMPDTHLGIGHLNVAAKPEMAALGGGGRLAFETGPPRLSHLPVAS
GTSTVLGSSSGGALNFTVGGSTSLNGQCEWLSRLQSGMVPNQYNPLRGSVAPGPLSTQAP
SLQHGMVGPLHSSLAASALSQMMSYQGLPSTRLATQPHLVQTQQVQPQNLQMQQQNLQPA
NIQQQQSLQPPPPPPQPHLGVSSAASGHLGRSFLSGEPSQADVQPLGPSSLAVHTILPQE
SPALPTSLPSSLVPPVTAAQFLTPPSQHSYSSPVDNTPSHQLQVPEHPFLTPSPESPDQW
SSSSPHSNVSDWSEGVSSPPTSMQSQIARIPEAFK
NT seq 7668 nt NT seq  +upstreamnt  +downstreamnt
atgccgccgctcctggcgcccctgctctgcctggcgctgctgcccgcgctcgccgcacga
ggcccgcgatgctcccagcccggtgagacctgcctgaatggcgggaagtgtgaagcggcc
aatggcacggaggcctgcgtctgtggcggggccttcgtgggcccgcgatgccaggacccc
aacccgtgcctcagcaccccctgcaagaacgccgggacatgccacgtggtggaccgcaga
ggcgtggcagactatgcctgcagctgtgccctgggcttctctgggcccctctgcctgaca
cccctggacaatgcctgcctcaccaacccctgccgcaacgggggcacctgcgacctgctc
acgctgacggagtacaagtgccgctgcccgcccggctggtcagggaaatcgtgccagcag
gctgacccgtgcgcctccaacccctgcgccaacggtggccagtgcctgcccttcgaggcc
tcctacatctgccactgcccacccagcttccatggccccacctgccggcaggatgtcaac
gagtgtggccagaagcccgggctttgccgccacggaggcacctgccacaacgaggtcggc
tcctaccgctgcgtctgccgcgccacccacactggccccaactgcgagcggccctacgtg
ccctgcagcccctcgccctgccagaacgggggcacctgccgccccacgggcgacgtcacc
cacgagtgtgcctgcctgccaggcttcaccggccagaactgtgaggaaaatatcgacgat
tgtccaggaaacaactgcaagaacgggggtgcctgtgtggacggcgtgaacacctacaac
tgccgctgcccgccagagtggacaggtcagtactgtaccgaggatgtggacgagtgccag
ctgatgccaaatgcctgccagaacggcgggacctgccacaacacccacggtggctacaac
tgcgtgtgtgtcaacggctggactggtgaggactgcagcgagaacattgatgactgtgcc
agcgccgcctgcttccacggcgccacctgccatgaccgtgtggcctccttctactgcgag
tgtccccatggccgcacaggtctgctgtgccacctcaacgacgcatgcatcagcaacccc
tgtaacgagggctccaactgcgacaccaaccctgtcaatggcaaggccatctgcacctgc
ccctcggggtacacgggcccggcctgcagccaggacgtggatgagtgctcgctgggtgcc
aacccctgcgagcatgcgggcaagtgcatcaacacgctgggctccttcgagtgccagtgt
ctgcagggctacacgggcccccgatgcgagatcgacgtcaacgagtgcgtctcgaacccg
tgccagaacgacgccacctgcctggaccagattggggagttccagtgcatctgcatgccc
ggctacgagggtgtgcactgcgaggtcaacacagacgagtgtgccagcagcccctgcctg
cacaatggccgctgcctggacaagatcaatgagttccagtgcgagtgccccacgggcttc
actgggcatctgtgccagtacgatgtggacgagtgtgccagcaccccctgcaagaatggt
gccaagtgcctggacggacccaacacttacacctgtgtgtgcacggaagggtacacgggg
acgcactgcgaggtggacatcgatgagtgcgaccccgacccctgccactacggctcctgc
aaggacggcgtcgccaccttcacctgcctctgccgcccaggctacacgggccaccactgc
gagaccaacatcaacgagtgctccagccagccctgccgccacgggggcacctgccaggac
cgcgacaacgcctacctctgcttctgcctgaaggggaccacaggacccaactgcgagatc
aacctggatgactgtgccagcagcccctgcgactcgggcacctgtctggacaagatcgat
ggctacgagtgtgcctgtgagccgggctacacagggagcatgtgtaacatcaacatcgat
gagtgtgcgggcaacccctgccacaacgggggcacctgcgaggacggcatcaatggcttc
acctgccgctgccccgagggctaccacgaccccacctgcctgtctgaggtcaatgagtgc
aacagcaacccctgcgtccacggggcctgccgggacagcctcaacgggtacaagtgcgac
tgtgaccctgggtggagtgggaccaactgtgacatcaacaacaatgagtgtgaatccaac
ccttgtgtcaacggcggcacctgcaaagacatgaccagtggctacgtgtgcacctgccgg
gagggcttcagcggtcccaactgccagaccaacatcaacgagtgtgcgtccaacccatgt
ctgaaccagggcacgtgtattgacgacgttgccgggtacaagtgcaactgcctgctgccc
tacacaggtgccacgtgtgaggtggtgctggccccgtgtgcccccagcccctgcagaaac
ggcggggagtgcaggcaatccgaggactatgagagcttctcctgtgtctgccccacgggc
tggcaagggcagacctgtgaggtcgacatcaacgagtgcgttctgagcccgtgccggcac
ggcgcatcctgccagaacacccacggcggctaccgctgccactgccaggccggctacagt
gggcgcaactgcgagaccgacatcgacgactgccggcccaacccgtgtcacaacgggggc
tcctgcacagacggcatcaacacggccttctgcgactgcctgcccggcttccggggcact
ttctgtgaggaggacatcaacgagtgtgccagtgacccctgccgcaacggggccaactgc
acggactgcgtggacagctacacgtgcacctgccccgcaggcttcagcgggatccactgt
gagaacaacacgcctgactgcacagagagctcctgcttcaacggtggcacctgcgtggac
ggcatcaactcgttcacctgcctgtgtccacccggcttcacgggcagctactgccagcac
gatgtcaatgagtgcgactcacagccctgcctgcatggcggcacctgtcaggacggctgc
ggctcctacaggtgcacctgcccccagggctacactggccccaactgccagaaccttgtg
cactggtgtgactcctcgccctgcaagaacggcggcaaatgctggcagacccacacccag
taccgctgcgagtgccccagcggctggaccggcctttactgcgacgtgcccagcgtgtcc
tgtgaggtggctgcgcagcgacaaggtgttgacgttgcccgcctgtgccagcatggaggg
ctctgtgtggacgcgggcaacacgcaccactgccgctgccaggcgggctacacaggcagc
tactgtgaggacctggtggacgagtgctcacccagcccctgccagaacggggccacctgc
acggactacctgggcggctactcctgcaagtgcgtggccggctaccacggggtgaactgc
tctgaggagatcgacgagtgcctctcccacccctgccagaacgggggcacctgcctcgac
ctccccaacacctacaagtgctcctgcccacggggcactcagggtgtgcactgtgagatc
aacgtggacgactgcaatccccccgttgaccccgtgtcccggagccccaagtgctttaac
aacggcacctgcgtggaccaggtgggcggctacagctgcacctgcccgccgggcttcgtg
ggtgagcgctgtgagggggatgtcaacgagtgcctgtccaatccctgcgacgcccgtggc
acccagaactgcgtgcagcgcgtcaatgacttccactgcgagtgccgtgctggtcacacc
gggcgccgctgcgagtccgtcatcaatggctgcaaaggcaagccctgcaagaatgggggc
acctgcgccgtggcctccaacaccgcccgcgggttcatctgcaagtgccctgcgggcttc
gagggcgccacgtgtgagaatgacgctcgtacctgcggcagcctgcgctgcctcaacggc
ggcacatgcatctccggcccgcgcagccccacctgcctgtgcctgggccccttcacgggc
cccgaatgccagttcccggccagcagcccctgcctgggcggcaacccctgctacaaccag
gggacctgtgagcccacatccgagagccccttctaccgttgcctgtgccccgccaaattc
aacgggctcttgtgccacatcctggactacagcttcgggggtggggccgggcgcgacatc
cccccgccgctgatcgaggaggcgtgcgagctgcccgagtgccaggaggacgcgggcaac
aaggtctgcagcctgcagtgcaacaaccacgcgtgcggctgggacggcggtgactgctcc
ctcaacttcaatgacccctggaagaactgcacgcagtctctgcagtgctggaagtacttc
agtgacggccactgtgacagccagtgcaactcagccggctgcctcttcgacggctttgac
tgccagcgtgcggaaggccagtgcaaccccctgtacgaccagtactgcaaggaccacttc
agcgacgggcactgcgaccagggctgcaacagcgcggagtgcgagtgggacgggctggac
tgtgcggagcatgtacccgagaggctggcggccggcacgctggtggtggtggtgctgatg
ccgccggagcagctgcgcaacagctccttccacttcctgcgggagctcagccgcgtgctg
cacaccaacgtggtcttcaagcgtgacgcacacggccagcagatgatcttcccctactac
ggccgcgaggaggagctgcgcaagcaccccatcaagcgtgccgccgagggctgggccgca
cctgacgccctgctgggccaggtgaaggcctcgctgctccctggtggcagcgagggtggg
cggcggcggagggagctggaccccatggacgtccgcggctccatcgtctacctggagatt
gacaaccggcagtgtgtgcaggcctcctcgcagtgcttccagagtgccaccgacgtggcc
gcattcctgggagcgctcgcctcgctgggcagcctcaacatcccctacaagatcgaggcc
gtgcagagtgagaccgtggagccgcccccgccggcgcagctgcacttcatgtacgtggcg
gcggccgcctttgtgcttctgttcttcgtgggctgcggggtgctgctgtcccgcaagcgc
cggcggcagcatggccagctctggttccctgagggcttcaaagtgtctgaggccagcaag
aagaagcggcgggagcccctcggcgaggactccgtgggcctcaagcccctgaagaacgct
tcagacggtgccctcatggacgacaaccagaatgagtggggggacgaggacctggagacc
aagaagttccggttcgaggagcccgtggttctgcctgacctggacgaccagacagaccac
cggcagtggactcagcagcacctggatgccgctgacctgcgcatgtctgccatggccccc
acaccgccccagggtgaggttgacgccgactgcatggacgtcaatgtccgcgggcctgat
ggcttcaccccgctcatgatcgcctcctgcagcgggggcggcctggagacgggcaacagc
gaggaagaggaggacgcgccggccgtcatctccgacttcatctaccagggcgccagcctg
cacaaccagacagaccgcacgggcgagaccgccttgcacctggccgcccgctactcacgc
tctgatgccgccaagcgcctgctggaggccagcgcagatgccaacatccaggacaacatg
ggccgcaccccgctgcatgcggctgtgtctgccgacgcacaaggtgtcttccagatcctg
atccggaaccgagccacagacctggatgcccgcatgcatgatggcacgacgccactgatc
ctggctgcccgcctggccgtggagggcatgctggaggacctcatcaactcacacgccgac
gtcaacgccgtagatgacctgggcaagtccgccctgcactgggccgccgccgtgaacaat
gtggatgccgcagttgtgctcctgaagaacggggctaacaaagatatgcagaacaacagg
gaggagacacccctgtttctggccgcccgggagggcagctacgagaccgccaaggtgctg
ctggaccactttgccaaccgggacatcacggatcatatggaccgcctgccgcgcgacatc
gcacaggagcgcatgcatcacgacatcgtgaggctgctggacgagtacaacctggtgcgc
agcccgcagctgcacggagccccgctggggggcacgcccaccctgtcgcccccgctctgc
tcgcccaacggctacctgggcagcctcaagcccggcgtgcagggcaagaaggtccgcaag
cccagcagcaaaggcctggcctgtggaagcaaggaggccaaggacctcaaggcacggagg
aagaagtcccaggacggcaagggctgcctgctggacagctccggcatgctctcgcccgtg
gactccctggagtcaccccatggctacctgtcagacgtggcctcgccgccactgctgccc
tccccgttccagcagtctccgtccgtgcccctcaaccacctgcctgggatgcccgacacc
cacctgggcatcgggcacctgaacgtggcggccaagcccgagatggcggcgctgggtggg
ggcggccggctggcctttgagactggcccacctcgtctctcccacctgcctgtggcctct
ggcaccagcaccgtcctgggctccagcagcggaggggccctgaatttcactgtgggcggg
tccaccagtttgaatggtcaatgcgagtggctgtcccggctgcagagcggcatggtgccg
aaccaatacaaccctctgcgggggagtgtggcaccaggccccctgagcacacaggccccc
tccctgcagcatggcatggtaggcccgctgcacagtagccttgctgccagcgccctgtcc
cagatgatgagctaccagggcctgcccagcacccggctggccacccagcctcacctggtg
cagacccagcaggtgcagccacaaaacttacagatgcagcagcagaacctgcagccagca
aacatccagcagcagcaaagcctgcagccgccaccaccaccaccacagccgcaccttggc
gtgagctcagcagccagcggccacctgggccggagcttcctgagtggagagccgagccag
gcagacgtgcagccactgggccccagcagcctggcggtgcacactattctgccccaggag
agccccgccctgcccacgtcgctgccatcctcgctggtcccacccgtgaccgcagcccag
ttcctgacgcccccctcgcagcacagctactcctcgcctgtggacaacacccccagccac
cagctacaggtgcctgagcaccccttcctcaccccgtcccctgagtcccctgaccagtgg
tccagctcgtccccgcattccaacgtctccgactggtccgagggcgtctccagccctccc
accagcatgcagtcccagatcgcccgcattccggaggccttcaagtaa

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