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Q9UM47 Proteins EGF-like domain Repeats
Uniprot ID:Q9UM47
Protein name: Neurogenic locus notch homolog protein 3
Gene : NOTCH3
Protein Family:NOTCH family
Squence Length : 2321
Sequnce
>Q9UM47 2322 MGPGARGRRRRRRPMSPPPPPPPVRALPLLLLLAGPGAAAPPCLDGSPCANGGRCTQLPSREAACLCPPGWVGERCQLEDPCHSGPCAGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLPDPCLSSPCAHGARCSVGPDGRFLCSCPPGYQGRSCRSDVDECRVGEPCRHGGTCLNTPGSFRCQCPAGYTGPLCENPAVPCAPSPCRNGGTCRQSGDLTYDCACLPGFEGQNCEVNVDDCPGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTEDVDECQLQPNACHNGGTCFNTLGGHSCVCVNGWTGESCSQNIDDCATAVCFHGATCHDRVASFYCACPMGKTGLLCHLDDACVSNPCHEDAICDTNPVNGRAICTCPPGFTGGACDQDVDECSIGANPCEHLGRCVNTQGSFLCQCGRGYTGPRCETDVNECLSGPCRNQATCLDRIGQFTCICMAGFTGTYCEVDIDECQSSPCVNGGVCKDRVNGFSCTCPSGFSGSTCQLDVDECASTPCRNGAKCVDQPDGYECRCAEGFEGTLCDRNVDDCSPDPCHHGRCVDGIASFSCACAPGYTGTRCESQVDECRSQPCRHGGKCLDLVDKYLCRCPSGTTGVNCEVNIDDCASNPCTFGVCRDGINRYDCVCQPGFTGPLCNVEINECASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLPPSHPCAHEPCSHGICYDAPGGFRCVCEPGWSGPRCSQSLARDACESQPCRAGGTCSSDGMGFHCTCPPGVQGRQCELLSPCTPNPCEHGGRCESAPGQLPVCSCPQGWQGPRCQQDVDECAGPAPCGPHGICTNLAGSFSCTCHGGYTGPSCDQDINDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARDVDECLSNPCGPGTCTDHVASFTCTCPPGYGGFHCEQDLPDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQHEADPCLSRPCLHGGVCSAAHPGFRCTCLESFTGPQCQTLVDWCSRQPCQNGGRCVQTGAYCLCPPGWSGRLCDIRSLPCREAAAQIGVRLEQLCQAGGQCVDEDSSHYCVCPEGRTGSHCEQEVDPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCEDDVDECASQPCQHGGSCIDLVARYLCSCPPGTLGVLCEINEDDCGPGPPLDSGPRCLHNGTCVDLVGGFRCTCPPGYTGLRCEADINECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTVLSPCESQPCQHGGQCRPSPGPGGGLTFTCHCAQPFWGPRCERVARSCRELQCPVGVPCQQTPRGPRCACPPGLSGPSCRSFPGSPPGASNASCAAAPCLHGGSCRPAPLAPFFRCACAQGWTGPRCEAPAAAPEVSEEPRCPRAACQAKRGDQRCDRECNSPGCGWDGGDCSLSVGDPWRQCEALQCWRLFNNSRCDPACSSPACLYDNFDCHAGGRERTCNPVYEKYCADHFADGRCDQGCNTEECGWDGLDCASEVPALLARGVLVLTVLLPPEELLRSSADFLQRLSAILRTSLRFRLDAHGQAMVFPYHRPSPGSEPRARRELAPEVIGSVVMLEIDNRLCLQSPENDHCFPDAQSAADYLGALSAVERLDFPYPLRDVRGEPLEPPEPSVPLLPLLVAGAVLLLVILVLGVMVARRKREHSTLWFPEGFSLHKDVASGHKGRREPVGQDALGMKNMAKGESLMGEVATDWMDTECPEAKRLKVEEPGMGAEEAVDCRQWTQHHLVAADIRVAPAMALTPPQGDADADGMDVNVRGPDGFTPLMLASFCGGALEPMPTEEDEADDTSASIISDLICQGAQLGARTDRTGETALHLAARYARADAAKRLLDAGADTNAQDHSGRTPLHTAVTADAQGVFQILIRNRSTDLDARMADGSTALILAARLAVEGMVEELIASHADVNAVDELGKSALHWAAAVNNVEATLALLKNGANKDMQDSKEETPLFLAAREGSYEAAKLLLDHFANREITDHLDRLPRDVAQERLHQDIVRLLDQPSGPRSPPGPHGLGPLLCPPGAFLPGLKAAQSGSKKSRRPPGKAGLGPQGPRGRGKKLTLACPGPLADSSVTLSPVDSLDSPRPFGGPPASPGGFPLEGPYAAATATAVSLAQLGGPGRAGLGRQPPGGCVLSLGLLNPVAVPLDWARLPPPAPPGPSFLLPLAPGPQLLNPGTPVSPQERPPPYLAVPGHGEEYPAAGAHSSPPKARFLRVPSEHPYLTPSPESPEHWASPSPPSLSDWSESTPSPATATGAMATTTGALPAQPLPLSVPSSLAQAQTQLGPQPEVTPKRQVLA
Domains
DOMAIN 40 77 EGF-like 1 DOMAIN 78 118 EGF-like 2 DOMAIN 119 156 EGF-like 3 DOMAIN 158 195 EGF-like 4 calcium-binding DOMAIN 197 234 EGF-like 5 DOMAIN 236 272 EGF-like 6 calcium-binding DOMAIN 274 312 EGF-like 7 DOMAIN 314 350 EGF-like 8 calcium-binding DOMAIN 351 389 EGF-like 9 DOMAIN 391 429 EGF-like 10 calcium-binding DOMAIN 431 467 EGF-like 11 calcium-binding DOMAIN 469 505 EGF-like 12 calcium-binding DOMAIN 507 543 EGF-like 13 calcium-binding DOMAIN 545 580 EGF-like 14 calcium-binding DOMAIN 582 618 EGF-like 15 calcium-binding DOMAIN 620 655 EGF-like 16 calcium-binding DOMAIN 657 693 EGF-like 17 calcium-binding DOMAIN 695 730 EGF-like 18 DOMAIN 734 770 EGF-like 19 DOMAIN 771 808 EGF-like 20 DOMAIN 810 847 EGF-like 21 calcium-binding DOMAIN 849 885 EGF-like 22 calcium-binding DOMAIN 887 922 EGF-like 23 calcium-binding DOMAIN 924 960 EGF-like 24 DOMAIN 962 998 EGF-like 25 DOMAIN 1000 1034 EGF-like 26 DOMAIN 1047 1082 EGF-like 27 DOMAIN 1084 1120 EGF-like 28 DOMAIN 1122 1158 EGF-like 29 calcium-binding DOMAIN 1160 1203 EGF-like 30 calcium-binding DOMAIN 1205 1244 EGF-like 31 DOMAIN 1246 1287 EGF-like 32 DOMAIN 1289 1325 EGF-like 33 DOMAIN 1335 1373 EGF-like 34
EGF-like sequence regions
40 - 77 PCLDGSPCANGGRCTQLPSREAACLCPPGWVGERCQLE 78 - 118 DPCHSGPCAGRGVCQSSVVAGTARFSCRCPRGFRGPDCSLP 119 - 156 DPCLSSPCAHGARCSVGPDGRFLCSCPPGYQGRSCRSD 158 - 195 DECRVGEPCRHGGTCLNTPGSFRCQCPAGYTGPLCENP 197 - 234 VPCAPSPCRNGGTCRQSGDLTYDCACLPGFEGQNCEVN 236 - 272 DDCPGHRCLNGGTCVDGVNTYNCQCPPEWTGQFCTED 274 - 312 DECQLQPNACHNGGTCFNTLGGHSCVCVNGWTGESCSQN 314 - 350 DDCATAVCFHGATCHDRVASFYCACPMGKTGLLCHLD 351 - 389 DACVSNPCHEDAICDTNPVNGRAICTCPPGFTGGACDQD 391 - 429 DECSIGANPCEHLGRCVNTQGSFLCQCGRGYTGPRCETD 431 - 467 NECLSGPCRNQATCLDRIGQFTCICMAGFTGTYCEVD 469 - 505 DECQSSPCVNGGVCKDRVNGFSCTCPSGFSGSTCQLD 507 - 543 DECASTPCRNGAKCVDQPDGYECRCAEGFEGTLCDRN 545 - 580 DDCSPDPCHHGRCVDGIASFSCACAPGYTGTRCESQ 582 - 618 DECRSQPCRHGGKCLDLVDKYLCRCPSGTTGVNCEVN 620 - 655 DDCASNPCTFGVCRDGINRYDCVCQPGFTGPLCNVE 657 - 693 NECASSPCGEGGSCVDGENGFRCLCPPGSLPPLCLPP 695 - 730 HPCAHEPCSHGICYDAPGGFRCVCEPGWSGPRCSQS 734 - 770 DACESQPCRAGGTCSSDGMGFHCTCPPGVQGRQCELL 771 - 808 SPCTPNPCEHGGRCESAPGQLPVCSCPQGWQGPRCQQD 810 - 847 DECAGPAPCGPHGICTNLAGSFSCTCHGGYTGPSCDQD 849 - 885 NDCDPNPCLNGGSCQDGVGSFSCSCLPGFAGPRCARD 887 - 922 DECLSNPCGPGTCTDHVASFTCTCPPGYGGFHCEQD 924 - 960 PDCSPSSCFNGGTCVDGVNSFSCLCRPGYTGAHCQHE 962 - 998 DPCLSRPCLHGGVCSAAHPGFRCTCLESFTGPQCQTL 1000 - 1034 DWCSRQPCQNGGRCVQTGAYCLCPPGWSGRLCDIR 1047 - 1082 VRLEQLCQAGGQCVDEDSSHYCVCPEGRTGSHCEQE 1084 - 1120 DPCLAQPCQHGGTCRGYMGGYMCECLPGYNGDNCEDD 1122 - 1158 DECASQPCQHGGSCIDLVARYLCSCPPGTLGVLCEIN 1160 - 1203 DDCGPGPPLDSGPRCLHNGTCVDLVGGFRCTCPPGYTGLRCEAD 1205 - 1244 NECRSGACHAAHTRDCLQDPGGGFRCLCHAGFSGPRCQTV 1246 - 1287 SPCESQPCQHGGQCRPSPGPGGGLTFTCHCAQPFWGPRCERV 1289 - 1325 RSCRELQCPVGVPCQQTPRGPRCACPPGLSGPSCRSF 1335 - 1373 ASCAAAPCLHGGSCRPAPLAPFFRCACAQGWTGPRCEAP
Function
"Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination (PubMed:15350543). Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity)"
Disease
"DISEASE: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310]: A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Myofibromatosis, infantile 2 (IMF2) [MIM:615293]: A rare mesenchymal disorder characterized by the development of benign tumors in the skin, striated muscles, bones, and, more rarely, visceral organs Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk Skeletal and muscular lesions occur in about half of the patients Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life Visceral lesions are associated with high morbidity and mortality Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Lateral meningocele syndrome (LMNS) [MIM:130720]: A very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis Note=The disease is caused by mutations affecting the gene represented in this entry"