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P78504 Proteins EGF-like domain Repeats
Uniprot ID:P78504
Protein name: Protein jagged-1
Gene : JAG1 JAGL1
Protein Family:
Squence Length : 1218
Sequnce
>P78504 1219 MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARNPGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRIVLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGMINPSRQWQTLKQNTGVAHFEYQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPECNRAICRQGCSPKHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCDKDLNYCGTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFECECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKPCVNAKSCKNLIASYYCDCLPGWMGQNCDININDCLGQCQNDASCRDLVNGYRCICPPGYAGDHCERDIDECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLDIDYCEPNPCQNGAQCYNRASDYFCKCPEDYEGKNCSHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCGPHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCESNPCRNGGTCIDGVNSYKCICSDGWEGAYCETNINDCSQNPCHNGGTCRDLVNDFYCDCKNGWKGKTCHSRDSQCDEATCNNGGTCYDEGDAFKCMCPGGWEGTTCNIARNSSCLPNPCHNGGTCVVNGESFTCVCKEGWEGPICAQNTNDCSPHPCYNSGTCVDGDNWYRCECAPGFAGPDCRININECQSSPCAFGATCVDEINGYRCVCPPGHSGAKCQEVSGRPCITMGSVIPDGAKWDDDCNTCQCLNGRIACSKVWCGPRPCLLHKGHSECPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCANITFTFNKEMMSPGLTTEHICSELRNLNILKNVSAEYSIYIACEPSPSANNEIHVAISAEDIRDDGNPIKEITDKIIDLVSKRDGNSSLIAAVAEVRVQRRPLKNRTDFLVPLLSSVLTVAWICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLNQIKNPIEKHGANTVPIKDYENKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQDNRDLESAQSLNRMEYIV
Domains
DOMAIN 185 229 DSL DOMAIN 230 263 EGF-like 1 DOMAIN 264 294 EGF-like 2 atypical DOMAIN 296 334 EGF-like 3 DOMAIN 336 372 EGF-like 4 DOMAIN 374 410 EGF-like 5 calcium-binding DOMAIN 412 448 EGF-like 6 calcium-binding DOMAIN 450 485 EGF-like 7 calcium-binding DOMAIN 487 523 EGF-like 8 calcium-binding DOMAIN 525 561 EGF-like 9 DOMAIN 586 627 EGF-like 10 DOMAIN 629 665 EGF-like 11 calcium-binding DOMAIN 667 703 EGF-like 12 calcium-binding DOMAIN 705 741 EGF-like 13 DOMAIN 744 780 EGF-like 14 DOMAIN 782 818 EGF-like 15 calcium-binding DOMAIN 820 856 EGF-like 16 calcium-binding
EGF-like sequence regions
230 - 263 AICRQGCSPKHGSCKLPGDCRCQYGWQGLYCDKC 264 - 294 IPHPGCVHGICNEPWQCLCETNWGGQLCDKD 296 - 334 NYCGTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIA 336 - 372 HACLSDPCHNRGSCKETSLGFECECSPGWTGPTCSTN 374 - 410 DDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLD 412 - 448 NECEAKPCVNAKSCKNLIASYYCDCLPGWMGQNCDIN 450 - 485 NDCLGQCQNDASCRDLVNGYRCICPPGYAGDHCERD 487 - 523 DECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLD 525 - 561 DYCEPNPCQNGAQCYNRASDYFCKCPEDYEGKNCSHL 586 - 627 PEGVRYISSNVCGPHGKCKSQSGGKFTCDCNKGFTGTYCHEN 629 - 665 NDCESNPCRNGGTCIDGVNSYKCICSDGWEGAYCETN 667 - 703 NDCSQNPCHNGGTCRDLVNDFYCDCKNGWKGKTCHSR 705 - 741 SQCDEATCNNGGTCYDEGDAFKCMCPGGWEGTTCNIA 744 - 780 SSCLPNPCHNGGTCVVNGESFTCVCKEGWEGPICAQN 782 - 818 NDCSPHPCYNSGTCVDGDNWYRCECAPGFAGPDCRIN 820 - 856 NECQSSPCAFGATCVDEINGYRCVCPPGHSGAKCQEV
Function
Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation (By similarity). Enhances fibroblast growth factor-induced angiogenesis (in vitro)
Mutation
207 207 F->A: Strongly reduced NOTCH1 binding
Disease
"DISEASE: Alagille syndrome 1 (ALGS1) [MIM:118450]: A form of Alagille syndrome, an autosomal dominant multisystem disorder It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis Note=The disease is caused by mutations affecting the gene represented in this entry ; DISEASE: Deafness, congenital heart defects, and posterior embryotoxon (DCHE) [MIM:617992]: An autosomal dominant disease characterized by mild to severe combined hearing loss, congenital heart defects, and posterior embryotoxon, a corneal abnormality consisting of a central collagen core surrounded by a thin layer of Descemets membrane and separated from the anterior chamber by a layer of endothelium Congenital heart defects include tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis Note=The disease is caused by mutations affecting the gene represented in this entry"