KEGG   Homo sapiens (human): 4854
Entry
4854              CDS       T01001                                 

Gene name
NOTCH3, CADASIL, CADASIL1, CASIL, IMF2, LMNS
Definition
(RefSeq) notch receptor 3
  KO
K20995  Notch 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa01522  Endocrine resistance
hsa04330  Notch signaling pathway
hsa04371  Apelin signaling pathway
hsa04658  Th1 and Th2 cell differentiation
hsa04919  Thyroid hormone signaling pathway
hsa05165  Human papillomavirus infection
hsa05200  Pathways in cancer
hsa05206  MicroRNAs in cancer
hsa05224  Breast cancer
Network
nt06116  NOTCH signaling (viruses)
nt06166  Human papillomavirus (HPV)
nt06216  NOTCH signaling
nt06270  Breast cancer
  Element
N00086  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
H00536  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
H01893  Lateral meningocele syndrome
H01910  Infantile myofibromatosis
Drug target
Tarextumab: D11775
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04330 Notch signaling pathway
    4854 (NOTCH3)
   04371 Apelin signaling pathway
    4854 (NOTCH3)
 09150 Organismal Systems
  09151 Immune system
   04658 Th1 and Th2 cell differentiation
    4854 (NOTCH3)
  09152 Endocrine system
   04919 Thyroid hormone signaling pathway
    4854 (NOTCH3)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    4854 (NOTCH3)
   05206 MicroRNAs in cancer
    4854 (NOTCH3)
  09162 Cancer: specific types
   05224 Breast cancer
    4854 (NOTCH3)
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    4854 (NOTCH3)
  09176 Drug resistance: antineoplastic
   01522 Endocrine resistance
    4854 (NOTCH3)
SSDB
Motif
Pfam: EGF hEGF EGF_CA EGF_2 Notch Ank Ank_2 NODP Ank_5 NOD DUF3454 Ank_3 Ank_4 cEGF EGF_3
Other DBs
NCBI-GeneID: 4854
NCBI-ProteinID: NP_000426
OMIM: 600276
HGNC: 7883
Ensembl: ENSG00000074181
Vega: OTTHUMG00000183217
Pharos: Q9UM47(Tchem)
UniProt: Q9UM47
Structure
PDB: 
5CZX 4ZLP 5CZV

Position
19p13.12
AA seq 2321 aa
MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLDGSPCANGGRCTQLPS
REAACLCPPGWVGERCQLEDPCHSGPCAGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLP
DPCLSSPCAHGARCSVGPDGRFLCSCPPGYQGRSCRSDVDECRVGEPCRHGGTCLNTPGS
FRCQCPAGYTGPLCENPAVPCAPSPCRNGGTCRQSGDLTYDCACLPGFEGQNCEVNVDDC
PGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVDECQLQPNACHNGGTCFNTLGGHSC
VCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCACPMGKTGLLCHLDDACVSNPC
HEDAICDTNPVNGRAICTCPPGFTGGACDQDVDECSIGANPCEHLGRCVNTQGSFLCQCG
RGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAGFTGTYCEVDIDECQSSPCVN
GGVCKDRVNGFSCTCPSGFSGSTCQLDVDECASTPCRNGAKCVDQPDGYECRCAEGFEGT
LCDRNVDDCSPDPCHHGRCVDGIASFSCACAPGYTGTRCESQVDECRSQPCRHGGKCLDL
VDKYLCRCPSGTTGVNCEVNIDDCASNPCTFGVCRDGINRYDCVCQPGFTGPLCNVEINE
CASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLPPSHPCAHEPCSHGICYDAPGGFRCVC
EPGWSGPRCSQSLARDACESQPCRAGGTCSSDGMGFHCTCPPGVQGRQCELLSPCTPNPC
EHGGRCESAPGQLPVCSCPQGWQGPRCQQDVDECAGPAPCGPHGICTNLAGSFSCTCHGG
YTGPSCDQDINDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGT
CTDHVASFTCTCPPGYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQ
HEADPCLSRPCLHGGVCSAAHPGFRCTCLESFTGPQCQTLVDWCSRQPCQNGGRCVQTGA
YCLCPPGWSGRLCDIRSLPCREAAAQIGVRLEQLCQAGGQCVDEDSSHYCVCPEGRTGSH
CEQEVDPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCEDDVDECASQPCQHGGSCIDL
VARYLCSCPPGTLGVLCEINEDDCGPGPPLDSGPRCLHNGTCVDLVGGFRCTCPPGYTGL
RCEADINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQ
CRPSPGPGGGLTFTCHCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLS
GPSCRSFPGSPPGASNASCAAAPCLHGGSCRPAPLAPFFRCACAQGWTGPRCEAPAAAPE
VSEEPRCPRAACQAKRGDQRCDRECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRLFNNS
RCDPACSSPACLYDNFDCHAGGRERTCNPVYEKYCADHFADGRCDQGCNTEECGWDGLDC
ASEVPALLARGVLVLTVLLPPEELLRSSADFLQRLSAILRTSLRFRLDAHGQAMVFPYHR
PSPGSEPRARRELAPEVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADYLGALSAVERL
DFPYPLRDVRGEPLEPPEPSVPLLPLLVAGAVLLLVILVLGVMVARRKREHSTLWFPEGF
SLHKDVASGHKGRREPVGQDALGMKNMAKGESLMGEVATDWMDTECPEAKRLKVEEPGMG
AEEAVDCRQWTQHHLVAADIRVAPAMALTPPQGDADADGMDVNVRGPDGFTPLMLASFCG
GALEPMPTEEDEADDTSASIISDLICQGAQLGARTDRTGETALHLAARYARADAAKRLLD
AGADTNAQDHSGRTPLHTAVTADAQGVFQILIRNRSTDLDARMADGSTALILAARLAVEG
MVEELIASHADVNAVDELGKSALHWAAAVNNVEATLALLKNGANKDMQDSKEETPLFLAA
REGSYEAAKLLLDHFANREITDHLDRLPRDVAQERLHQDIVRLLDQPSGPRSPPGPHGLG
PLLCPPGAFLPGLKAAQSGSKKSRRPPGKAGLGPQGPRGRGKKLTLACPGPLADSSVTLS
PVDSLDSPRPFGGPPASPGGFPLEGPYAAATATAVSLAQLGGPGRAGLGRQPPGGCVLSL
GLLNPVAVPLDWARLPPPAPPGPSFLLPLAPGPQLLNPGTPVSPQERPPPYLAVPGHGEE
YPAAGAHSSPPKARFLRVPSEHPYLTPSPESPEHWASPSPPSLSDWSESTPSPATATGAM
ATTTGALPAQPLPLSVPSSLAQAQTQLGPQPEVTPKRQVLA
NT seq 6966 nt   +upstreamnt  +downstreamnt
atggggccgggggcccgtggccgccgccgccgccgtcgcccgatgtcgccgccaccgcca
ccgccacccgtgcgggcgctgcccctgctgctgctgctagcggggccgggggctgcagcc
cccccttgcctggacggaagcccgtgtgcaaatggaggtcgttgcacccagctgccctcc
cgggaggctgcctgcctgtgcccgcctggctgggtgggtgagcggtgtcagctggaggac
ccctgtcactcaggcccctgtgctggccgtggtgtctgccagagttcagtggtggctggc
accgcccgattctcatgccggtgcccccgtggcttccgaggccctgactgctccctgcca
gatccctgcctcagcagcccttgtgcccacggtgcccgctgctcagtggggcccgatgga
cgcttcctctgctcctgcccacctggctaccagggccgcagctgccgaagcgacgtggat
gagtgccgggtgggtgagccctgccgccatggtggcacctgcctcaacacacctggctcc
ttccgctgccagtgtccagctggctacacagggccactatgtgagaaccccgcggtgccc
tgtgcaccctcaccatgccgtaacgggggcacctgcaggcagagtggcgacctcacttac
gactgtgcctgtcttcctgggtttgagggtcagaattgtgaagtgaacgtggacgactgt
ccaggacaccgatgtctcaatggggggacatgcgtggatggcgtcaacacctataactgc
cagtgccctcctgagtggacaggccagttctgcacggaggacgtggatgagtgtcagctg
cagcccaacgcctgccacaatgggggtacctgcttcaacacgctgggtggccacagctgc
gtgtgtgtcaatggctggacaggcgagagctgcagtcagaatatcgatgactgtgccaca
gccgtgtgcttccatggggccacctgccatgaccgcgtggcttctttctactgtgcctgc
cccatgggcaagactggcctcctgtgtcacctggatgacgcctgtgtcagcaacccctgc
cacgaggatgctatctgtgacacaaatccggtgaacggccgggccatttgcacctgtcct
cccggcttcacgggtggggcatgtgaccaggatgtggacgagtgctctatcggcgccaac
ccctgcgagcacttgggcaggtgcgtgaacacgcagggctccttcctgtgccagtgcggt
cgtggctacactggacctcgctgtgagaccgatgtcaacgagtgtctgtcggggccctgc
cgaaaccaggccacgtgcctcgaccgcataggccagttcacctgtatctgtatggcaggc
ttcacaggaacctattgcgaggtggacattgacgagtgtcagagtagcccctgtgtcaac
ggtggggtctgcaaggaccgagtcaatggcttcagctgcacctgcccctcgggcttcagc
ggctccacgtgtcagctggacgtggacgaatgcgccagcacgccctgcaggaatggcgcc
aaatgcgtggaccagcccgatggctacgagtgccgctgtgccgagggctttgagggcacg
ctgtgtgatcgcaacgtggacgactgctcccctgacccatgccaccatggtcgctgcgtg
gatggcatcgccagcttctcatgtgcctgtgctcctggctacacgggcacacgctgcgag
agccaggtggacgaatgccgcagccagccctgccgccatggcggcaaatgcctagacctg
gtggacaagtacctctgccgctgcccttctgggaccacaggtgtgaactgcgaagtgaac
attgacgactgtgccagcaacccctgcacctttggagtctgccgtgatggcatcaaccgc
tacgactgtgtctgccaacctggcttcacagggcccctttgtaacgtggagatcaatgag
tgtgcttccagcccatgcggcgagggaggttcctgtgtggatggggaaaatggcttccgc
tgcctctgcccgcctggctccttgcccccactctgcctccccccgagccatccctgtgcc
catgagccctgcagtcacggcatctgctatgatgcacctggcgggttccgctgtgtgtgt
gagcctggctggagtggcccccgctgcagccagagcctggcccgagacgcctgtgagtcc
cagccgtgcagggccggtgggacatgcagcagcgatggaatgggtttccactgcacctgc
ccgcctggtgtccagggacgtcagtgtgaactcctctccccctgcaccccgaacccctgt
gagcatgggggccgctgcgagtctgcccctggccagctgcctgtctgctcctgcccccag
ggctggcaaggcccacgatgccagcaggatgtggacgagtgtgctggccccgcaccctgt
ggccctcatggtatctgcaccaacctggcagggagtttcagctgcacctgccatggaggg
tacactggcccttcctgcgatcaggacatcaatgactgtgaccccaacccatgcctgaac
ggtggctcgtgccaagacggcgtgggctccttttcctgctcctgcctccctggtttcgcc
ggcccacgatgcgcccgcgatgtggatgagtgcctgagcaacccctgcggcccgggcacc
tgtaccgaccacgtggcctccttcacctgcacctgcccgccaggctacggaggcttccac
tgcgaacaggacctgcccgactgcagccccagctcctgcttcaatggcgggacctgtgtg
gacggcgtgaactcgttcagctgcctgtgccgtcccggctacacaggagcccactgccaa
catgaggcagacccctgcctctcgcggccctgcctacacgggggcgtctgcagcgccgcc
caccctggcttccgctgcacctgcctcgagagcttcacgggcccgcagtgccagacgctg
gtggattggtgcagccgccagccttgtcaaaacgggggtcgctgcgtccagactggggcc
tattgcctttgtccccctggatggagcggacgcctctgtgacatccgaagcttgccctgc
agggaggccgcagcccagatcggggtgcggctggagcagctgtgtcaggcgggtgggcag
tgtgtggatgaagacagctcccactactgcgtgtgcccagagggccgtactggtagccac
tgtgagcaggaggtggacccctgcttggcccagccctgccagcatggggggacctgccgt
ggctatatggggggctacatgtgtgagtgtcttcctggctacaatggtgataactgtgag
gacgacgtggacgagtgtgcctcccagccctgccagcacgggggttcatgcattgacctc
gtggcccgctatctctgctcctgtcccccaggaacgctgggggtgctctgcgagattaat
gaggatgactgcggcccaggcccaccgctggactcagggccccggtgcctacacaatggc
acctgcgtggacctggtgggtggtttccgctgcacctgtcccccaggatacactggtttg
cgctgcgaggcagacatcaatgagtgtcgctcaggtgcctgccacgcggcacacacccgg
gactgcctgcaggacccaggcggaggtttccgttgcctttgtcatgctggcttctcaggt
cctcgctgtcagactgtcctgtctccctgcgagtcccagccatgccagcatggaggccag
tgccgtcctagcccgggtcctgggggtgggctgaccttcacctgtcactgtgcccagccg
ttctggggtccgcgttgcgagcgggtggcgcgctcctgccgggagctgcagtgcccggtg
ggcgtcccatgccagcagacgccccgcgggccgcgctgcgcctgccccccagggttgtcg
ggaccctcctgccgcagcttcccggggtcgccgccgggggccagcaacgccagctgcgcg
gccgccccctgtctccacgggggctcctgccgccccgcgccgctcgcgcccttcttccgc
tgcgcttgcgcgcagggctggaccgggccgcgctgcgaggcgcccgccgcggcacccgag
gtctcggaggagccgcggtgcccgcgcgccgcctgccaggccaagcgcggggaccagcgc
tgcgaccgcgagtgcaacagcccaggctgcggctgggacggcggcgactgctcgctgagc
gtgggcgacccctggcggcaatgcgaggcgctgcagtgctggcgcctcttcaacaacagc
cgctgcgaccccgcctgcagctcgcccgcctgcctctacgacaacttcgactgccacgcc
ggtggccgcgagcgcacttgcaacccggtgtacgagaagtactgcgccgaccactttgcc
gacggccgctgcgaccagggctgcaacacggaggagtgcggctgggatgggctggattgt
gccagcgaggtgccggccctgctggcccgcggcgtgctggtgctcacagtgctgctgccg
ccagaggagctactgcgttccagcgccgactttctgcagcggctcagcgccatcctgcgc
acctcgctgcgcttccgcctggacgcgcacggccaggccatggtcttcccttaccaccgg
cctagtcctggctccgaaccccgggcccgtcgggagctggcccccgaggtgatcggctcg
gtagtaatgctggagattgacaaccggctctgcctgcagtcgcctgagaatgatcactgc
ttccccgatgcccagagcgccgctgactacctgggagcgttgtcagcggtggagcgcctg
gacttcccgtacccactgcgggacgtgcggggggagccgctggagcctccagaacccagc
gtcccgctgctgccactgctagtggcgggcgctgtcttgctgctggtcattctcgtcctg
ggtgtcatggtggcccggcgcaagcgcgagcacagcaccctctggttccctgagggcttc
tcactgcacaaggacgtggcctctggtcacaagggccggcgggaacccgtgggccaggac
gcgctgggcatgaagaacatggccaagggtgagagcctgatgggggaggtggccacagac
tggatggacacagagtgcccagaggccaagcggctaaaggtagaggagccaggcatgggg
gctgaggaggctgtggattgccgtcagtggactcaacaccatctggttgctgctgacatc
cgcgtggcaccagccatggcactgacaccaccacagggcgacgcagatgctgatggcatg
gatgtcaatgtgcgtggcccagatggcttcaccccgctaatgctggcttccttctgtggg
ggggctctggagccaatgccaactgaagaggatgaggcagatgacacatcagctagcatc
atctccgacctgatctgccagggggctcagcttggggcacggactgaccgtactggcgag
actgctttgcacctggctgcccgttatgcccgtgctgatgcagccaagcggctgctggat
gctggggcagacaccaatgcccaggaccactcaggccgcactcccctgcacacagctgtc
acagccgatgcccagggtgtcttccagattctcatccgaaaccgctctacagacttggat
gcccgcatggcagatggctcaacggcactgatcctggcggcccgcctggcagtagagggc
atggtggaagagctcatcgccagccatgctgatgtcaatgctgtggatgagcttgggaaa
tcagccttacactgggctgcggctgtgaacaacgtggaagccactttggccctgctcaaa
aatggagccaataaggacatgcaggatagcaaggaggagacccccctattcctggccgcc
cgcgagggcagctatgaggctgccaagctgctgttggaccactttgccaaccgtgagatc
accgaccacctggacaggctgccgcgggacgtagcccaggagagactgcaccaggacatc
gtgcgcttgctggatcaacccagtgggccccgcagcccccccggtccccacggcctgggg
cctctgctctgtcctccaggggccttcctccctggcctcaaagcggcacagtcggggtcc
aagaagagcaggaggccccccgggaaggcggggctggggccgcaggggccccgggggcgg
ggcaagaagctgacgctggcctgcccgggccccctggctgacagctcggtcacgctgtcg
cccgtggactcgctggactccccgcggcctttcggtgggccccctgcttcccctggtggc
ttcccccttgaggggccctatgcagctgccactgccactgcagtgtctctggcacagctt
ggtggcccaggccgggcgggtctagggcgccagccccctggaggatgtgtactcagcctg
ggcctgctgaaccctgtggctgtgcccctcgattgggcccggctgcccccacctgcccct
ccaggcccctcgttcctgctgccactggcgccgggaccccagctgctcaacccagggacc
cccgtctccccgcaggagcggcccccgccttacctggcagtcccaggacatggcgaggag
tacccggcggctggggcacacagcagccccccaaaggcccgcttcctgcgggttcccagt
gagcacccttacctgaccccatcccccgaatcccctgagcactgggccagcccctcacct
ccctccctctcagactggtccgaatccacgcctagcccagccactgccactggggccatg
gccaccaccactggggcactgcctgcccagccacttcccttgtctgttcccagctccctt
gctcaggcccagacccagctggggccccagccggaagttacccccaagaggcaagtgttg
gcctga

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (9)   
   KEGG PATHWAY (9)   
Network (4)   
   KEGG NETWORK (4)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Drug (1)   
   KEGG DRUG (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (146)   
   KEGG ORTHOLOGY (1)   
   RefGene (138)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (14)   
   RefSeq(nuc) (2)   
   GenBank (6)   
   EMBL (6)   
Protein domain (15)   
   Pfam (15)   
All databases (202)   

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