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P46531 Proteins EGF-like domain Repeats
Uniprot ID:P46531
Protein name: Neurogenic locus notch homolog protein 1
Gene : NOTCH1 TAN1
Protein Family:NOTCH family
Squence Length : 2555
Sequnce
>P46531 2556 MPPLLAPLLCLALLPALAARGPRCSQPGETCLNGGKCEAANGTEACVCGGAFVGPRCQDPNPCLSTPCKNAGTCHVVDRRGVADYACSCALGFSGPLCLTPLDNACLTNPCRNGGTCDLLTLTEYKCRCPPGWSGKSCQQADPCASNPCANGGQCLPFEASYICHCPPSFHGPTCRQDVNECGQKPGLCRHGGTCHNEVGSYRCVCRATHTGPNCERPYVPCSPSPCQNGGTCRPTGDVTHECACLPGFTGQNCEENIDDCPGNNCKNGGACVDGVNTYNCRCPPEWTGQYCTEDVDECQLMPNACQNGGTCHNTHGGYNCVCVNGWTGEDCSENIDDCASAACFHGATCHDRVASFYCECPHGRTGLLCHLNDACISNPCNEGSNCDTNPVNGKAICTCPSGYTGPACSQDVDECSLGANPCEHAGKCINTLGSFECQCLQGYTGPRCEIDVNECVSNPCQNDATCLDQIGEFQCICMPGYEGVHCEVNTDECASSPCLHNGRCLDKINEFQCECPTGFTGHLCQYDVDECASTPCKNGAKCLDGPNTYTCVCTEGYTGTHCEVDIDECDPDPCHYGSCKDGVATFTCLCRPGYTGHHCETNINECSSQPCRHGGTCQDRDNAYLCFCLKGTTGPNCEINLDDCASSPCDSGTCLDKIDGYECACEPGYTGSMCNINIDECAGNPCHNGGTCEDGINGFTCRCPEGYHDPTCLSEVNECNSNPCVHGACRDSLNGYKCDCDPGWSGTNCDINNNECESNPCVNGGTCKDMTSGYVCTCREGFSGPNCQTNINECASNPCLNQGTCIDDVAGYKCNCLLPYTGATCEVVLAPCAPSPCRNGGECRQSEDYESFSCVCPTGWQGQTCEVDINECVLSPCRHGASCQNTHGGYRCHCQAGYSGRNCETDIDDCRPNPCHNGGSCTDGINTAFCDCLPGFRGTFCEEDINECASDPCRNGANCTDCVDSYTCTCPAGFSGIHCENNTPDCTESSCFNGGTCVDGINSFTCLCPPGFTGSYCQHDVNECDSQPCLHGGTCQDGCGSYRCTCPQGYTGPNCQNLVHWCDSSPCKNGGKCWQTHTQYRCECPSGWTGLYCDVPSVSCEVAAQRQGVDVARLCQHGGLCVDAGNTHHCRCQAGYTGSYCEDLVDECSPSPCQNGATCTDYLGGYSCKCVAGYHGVNCSEEIDECLSHPCQNGGTCLDLPNTYKCSCPRGTQGVHCEINVDDCNPPVDPVSRSPKCFNNGTCVDQVGGYSCTCPPGFVGERCEGDVNECLSNPCDARGTQNCVQRVNDFHCECRAGHTGRRCESVINGCKGKPCKNGGTCAVASNTARGFICKCPAGFEGATCENDARTCGSLRCLNGGTCISGPRSPTCLCLGPFTGPECQFPASSPCLGGNPCYNQGTCEPTSESPFYRCLCPAKFNGLLCHILDYSFGGGAGRDIPPPLIEEACELPECQEDAGNKVCSLQCNNHACGWDGGDCSLNFNDPWKNCTQSLQCWKYFSDGHCDSQCNSAGCLFDGFDCQRAEGQCNPLYDQYCKDHFSDGHCDQGCNSAECEWDGLDCAEHVPERLAAGTLVVVVLMPPEQLRNSSFHFLRELSRVLHTNVVFKRDAHGQQMIFPYYGREEELRKHPIKRAAEGWAAPDALLGQVKASLLPGGSEGGRRRRELDPMDVRGSIVYLEIDNRQCVQASSQCFQSATDVAAFLGALASLGSLNIPYKIEAVQSETVEPPPPAQLHFMYVAAAAFVLLFFVGCGVLLSRKRRRQHGQLWFPEGFKVSEASKKKRREPLGEDSVGLKPLKNASDGALMDDNQNEWGDEDLETKKFRFEEPVVLPDLDDQTDHRQWTQQHLDAADLRMSAMAPTPPQGEVDADCMDVNVRGPDGFTPLMIASCSGGGLETGNSEEEEDAPAVISDFIYQGASLHNQTDRTGETALHLAARYSRSDAAKRLLEASADANIQDNMGRTPLHAAVSADAQGVFQILIRNRATDLDARMHDGTTPLILAARLAVEGMLEDLINSHADVNAVDDLGKSALHWAAAVNNVDAAVVLLKNGANKDMQNNREETPLFLAAREGSYETAKVLLDHFANRDITDHMDRLPRDIAQERMHHDIVRLLDEYNLVRSPQLHGAPLGGTPTLSPPLCSPNGYLGSLKPGVQGKKVRKPSSKGLACGSKEAKDLKARRKKSQDGKGCLLDSSGMLSPVDSLESPHGYLSDVASPPLLPSPFQQSPSVPLNHLPGMPDTHLGIGHLNVAAKPEMAALGGGGRLAFETGPPRLSHLPVASGTSTVLGSSSGGALNFTVGGSTSLNGQCEWLSRLQSGMVPNQYNPLRGSVAPGPLSTQAPSLQHGMVGPLHSSLAASALSQMMSYQGLPSTRLATQPHLVQTQQVQPQNLQMQQQNLQPANIQQQQSLQPPPPPPQPHLGVSSAASGHLGRSFLSGEPSQADVQPLGPSSLAVHTILPQESPALPTSLPSSLVPPVTAAQFLTPPSQHSYSSPVDNTPSHQLQVPEHPFLTPSPESPDQWSSSSPHSNVSDWSEGVSSPPTSMQSQIARIPEAFK
Domains
DOMAIN 20 58 EGF-like 1 DOMAIN 59 99 EGF-like 2 DOMAIN 102 139 EGF-like 3 DOMAIN 140 176 EGF-like 4 DOMAIN 178 216 EGF-like 5 calcium-binding DOMAIN 218 255 EGF-like 6 DOMAIN 257 293 EGF-like 7 calcium-binding DOMAIN 295 333 EGF-like 8 calcium-binding DOMAIN 335 371 EGF-like 9 calcium-binding DOMAIN 372 410 EGF-like 10 DOMAIN 412 450 EGF-like 11 calcium-binding DOMAIN 452 488 EGF-like 12 calcium-binding DOMAIN 490 526 EGF-like 13 calcium-binding DOMAIN 528 564 EGF-like 14 calcium-binding DOMAIN 566 601 EGF-like 15 calcium-binding DOMAIN 603 639 EGF-like 16 calcium-binding DOMAIN 641 676 EGF-like 17 calcium-binding DOMAIN 678 714 EGF-like 18 calcium-binding DOMAIN 716 751 EGF-like 19 calcium-binding DOMAIN 753 789 EGF-like 20 DOMAIN 791 827 EGF-like 21 calcium-binding DOMAIN 829 867 EGF-like 22 DOMAIN 869 905 EGF-like 23 calcium-binding DOMAIN 907 943 EGF-like 24 DOMAIN 945 981 EGF-like 25 calcium-binding DOMAIN 983 1019 EGF-like 26 DOMAIN 1021 1057 EGF-like 27 DOMAIN 1059 1095 EGF-like 28 DOMAIN 1097 1143 EGF-like 29 DOMAIN 1145 1181 EGF-like 30 DOMAIN 1183 1219 EGF-like 31 calcium-binding DOMAIN 1221 1265 EGF-like 32 calcium-binding DOMAIN 1267 1305 EGF-like 33 DOMAIN 1307 1346 EGF-like 34 DOMAIN 1348 1384 EGF-like 35 DOMAIN 1387 1426 EGF-like 36
EGF-like sequence regions
20 - 58 PRCSQPGETCLNGGKCEAANGTEACVCGGAFVGPRCQDP 59 - 99 NPCLSTPCKNAGTCHVVDRRGVADYACSCALGFSGPLCLTP 102 - 139 NACLTNPCRNGGTCDLLTLTEYKCRCPPGWSGKSCQQA 140 - 176 DPCASNPCANGGQCLPFEASYICHCPPSFHGPTCRQD 178 - 216 NECGQKPGLCRHGGTCHNEVGSYRCVCRATHTGPNCERP 218 - 255 VPCSPSPCQNGGTCRPTGDVTHECACLPGFTGQNCEEN 257 - 293 DDCPGNNCKNGGACVDGVNTYNCRCPPEWTGQYCTED 295 - 333 DECQLMPNACQNGGTCHNTHGGYNCVCVNGWTGEDCSEN 335 - 371 DDCASAACFHGATCHDRVASFYCECPHGRTGLLCHLN 372 - 410 DACISNPCNEGSNCDTNPVNGKAICTCPSGYTGPACSQD 412 - 450 DECSLGANPCEHAGKCINTLGSFECQCLQGYTGPRCEID 452 - 488 NECVSNPCQNDATCLDQIGEFQCICMPGYEGVHCEVN 490 - 526 DECASSPCLHNGRCLDKINEFQCECPTGFTGHLCQYD 528 - 564 DECASTPCKNGAKCLDGPNTYTCVCTEGYTGTHCEVD 566 - 601 DECDPDPCHYGSCKDGVATFTCLCRPGYTGHHCETN 603 - 639 NECSSQPCRHGGTCQDRDNAYLCFCLKGTTGPNCEIN 641 - 676 DDCASSPCDSGTCLDKIDGYECACEPGYTGSMCNIN 678 - 714 DECAGNPCHNGGTCEDGINGFTCRCPEGYHDPTCLSE 716 - 751 NECNSNPCVHGACRDSLNGYKCDCDPGWSGTNCDIN 753 - 789 NECESNPCVNGGTCKDMTSGYVCTCREGFSGPNCQTN 791 - 827 NECASNPCLNQGTCIDDVAGYKCNCLLPYTGATCEVV 829 - 867 APCAPSPCRNGGECRQSEDYESFSCVCPTGWQGQTCEVD 869 - 905 NECVLSPCRHGASCQNTHGGYRCHCQAGYSGRNCETD 907 - 943 DDCRPNPCHNGGSCTDGINTAFCDCLPGFRGTFCEED 945 - 981 NECASDPCRNGANCTDCVDSYTCTCPAGFSGIHCENN 983 - 1019 PDCTESSCFNGGTCVDGINSFTCLCPPGFTGSYCQHD 1021 - 1057 NECDSQPCLHGGTCQDGCGSYRCTCPQGYTGPNCQNL 1059 - 1095 HWCDSSPCKNGGKCWQTHTQYRCECPSGWTGLYCDVP 1097 - 1143 VSCEVAAQRQGVDVARLCQHGGLCVDAGNTHHCRCQAGYTGSYCEDL 1145 - 1181 DECSPSPCQNGATCTDYLGGYSCKCVAGYHGVNCSEE 1183 - 1219 DECLSHPCQNGGTCLDLPNTYKCSCPRGTQGVHCEIN 1221 - 1265 DDCNPPVDPVSRSPKCFNNGTCVDQVGGYSCTCPPGFVGERCEGD 1267 - 1305 NECLSNPCDARGTQNCVQRVNDFHCECRAGHTGRRCESV 1307 - 1346 NGCKGKPCKNGGTCAVASNTARGFICKCPAGFEGATCEND 1348 - 1384 RTCGSLRCLNGGTCISGPRSPTCLCLGPFTGPECQFP 1387 - 1426 SPCLGGNPCYNQGTCEPTSESPFYRCLCPAKFNGLLCHIL
Function
"Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. 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. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4+ and CD8+ cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO)"
Disease
"DISEASE: Aortic valve disease 1 (AOVD1) [MIM:109730]: A common defect in the aortic valve in which two rather than three leaflets are present It is often associated with aortic valve calcification, stenosis and insufficiency In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Adams-Oliver syndrome 5 (AOS5) [MIM:616028]: A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly) Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins Note=The disease is caused by mutations affecting the gene represented in this entry"