KEGG T01001: 4854

Homo sapiens (human): 4854

Entry

4854 CDS T01001

Gene name

NOTCH3, CADASIL, CASIL

Definition

notch 3

Orthology

K02599

Notch

Organism

hsa Homo sapiens (human)

Pathway

hsa04320	Dorso-ventral axis formation
hsa04330	Notch signaling pathway

Disease

H00536

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)

Class

Environmental Information Processing; Signal transduction; Notch signaling pathway [PATH:hsa04330]
Organismal Systems; Development; Dorso-ventral axis formation [PATH:hsa04320]

SSDB

Motif

Pfam:

EGF EGF_CA Ank_2 hEGF Ank Notch Ank_5 NODP NOD Ank_3 Ank_4 EGF_2 DUF3454 EGF_3 FXa_inhibition

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

19p13.2-p13.1

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

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (3)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (13)   
   RefSeq(nuc) (1)   
   GenBank (6)   
   EMBL (6)   
Protein domain (15)   
   Pfam (15)   
All databases (48)   

Download RDF

DBGET integrated database retrieval system