| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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Gene ID | 4854 |
Name | NOTCH3 |
Synonym | CADASIL|CASIL;notch 3;NOTCH3;notch 3 |
Definition | Notch homolog 3|neurogenic locus notch homolog protein 3 |
Position | 19p13.2-p13.1 |
Gene Type | protein-coding |
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PAH Type |
Description |
PAH | Notch3 signaling promotes the development of pulmonary arterial hypertension. |
PH | Notch3 signaling promotes the development of pulmonary arterial hypertension. |
| More detail of all Human literatures about NOTCH3 | |
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Pathways and Diseases |
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Pathway | Notch signaling pathway;PANTHER;P00045 |
Pathway | Transport of Notch receptor precursor to golgi;PID Reactome;500111 |
Pathway | Mature Notch receptor trafficks to plasma membrane;PID Reactome;500113 |
Pathway | Signaling by Notch;PID Reactome;500110 |
Pathway | Notch receptor binds with a ligand;PID Reactome;500114 |
Pathway | A third proteolytic cleavage releases NICD;PID Reactome;500116 |
Pathway | Alzheimer disease-presenilin pathway;PANTHER;P00004 |
Pathway | Notch signaling pathway;KEGG PATHWAY;hsa04330 |
Pathway | NICD trafficks to nucleus;PID Reactome;500117 |
Pathway | Gene Expression;Reactome;REACT:71 |
Pathway | Signaling by Notch;Reactome;REACT:299 |
Pathway | Notch signaling pathway;PID Curated;200013 |
Pathway | Maturation of Notch precursor via proteolytic cleavage;PID Reactome;500112 |
Pathway | Dorso-ventral axis formation;KEGG PATHWAY;hsa04320 |
Pathway | Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor;PID Reactome;500115 |
Disease | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy;OMIM |
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External Links |
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Links to Entrez Gene | 4854 |
Links to all GeneRIF Items | 4854 |
Links to iHOP | 4854 |
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Sequence Information |
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Nucleotide Sequence |
>4854 : length: 6966 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 |
Protein Sequence |
>4854 : length: 2321 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 |