182

ENST00000254958, ENSP00000254958; ENSG00000101384

SEQUENCE   1218 AA;  133799 MW;  F36EE9FBF64DF162 CRC64;
MRSPRTRGRS GRPLSLLLAL LCALRAKVCG ASGQFELEIL SMQNVNGELQ NGNCCGGARN
PGDRKCTRDE CDTYFKVCLK EYQSRVTAGG PCSFGSGSTP VIGGNTFNLK ASRGNDRNRI
VLPFSFAWPR SYTLLVEAWD SSNDTVQPDS IIEKASHSGM INPSRQWQTL KQNTGVAHFE
YQIRVTCDDY YYGFGCNKFC RPRDDFFGHY ACDQNGNKTC MEGWMGPECN RAICRQGCSP
KHGSCKLPGD CRCQYGWQGL YCDKCIPHPG CVHGICNEPW QCLCETNWGG QLCDKDLNYC
GTHQPCLNGG TCSNTGPDKY QCSCPEGYSG PNCEIAEHAC LSDPCHNRGS CKETSLGFEC
ECSPGWTGPT CSTNIDDCSP NNCSHGGTCQ DLVNGFKCVC PPQWTGKTCQ LDANECEAKP
CVNAKSCKNL IASYYCDCLP GWMGQNCDIN INDCLGQCQN DASCRDLVNG YRCICPPGYA
GDHCERDIDE CASNPCLNGG HCQNEINRFQ CLCPTGFSGN LCQLDIDYCE PNPCQNGAQC
YNRASDYFCK CPEDYEGKNC SHLKDHCRTT PCEVIDSCTV AMASNDTPEG VRYISSNVCG
PHGKCKSQSG GKFTCDCNKG FTGTYCHENI NDCESNPCRN GGTCIDGVNS YKCICSDGWE
GAYCETNIND CSQNPCHNGG TCRDLVNDFY CDCKNGWKGK TCHSRDSQCD EATCNNGGTC
YDEGDAFKCM CPGGWEGTTC NIARNSSCLP NPCHNGGTCV VNGESFTCVC KEGWEGPICA
QNTNDCSPHP CYNSGTCVDG DNWYRCECAP GFAGPDCRIN INECQSSPCA FGATCVDEIN
GYRCVCPPGH SGAKCQEVSG RPCITMGSVI PDGAKWDDDC NTCQCLNGRI ACSKVWCGPR
PCLLHKGHSE CPSGQSCIPI LDDQCFVHPC TGVGECRSSS LQPVKTKCTS DSYYQDNCAN
ITFTFNKEMM SPGLTTEHIC SELRNLNILK NVSAEYSIYI ACEPSPSANN EIHVAISAED
IRDDGNPIKE ITDKIIDLVS KRDGNSSLIA AVAEVRVQRR PLKNRTDFLV PLLSSVLTVA
WICCLVTAFY WCLRKRRKPG SHTHSASEDN TTNNVREQLN QIKNPIEKHG ANTVPIKDYE
NKNSKMSKIR THNSEVEEDD MDKHQQKARF AKQPAYTLVD REEKPPNGTP TKHPNWTNKQ
DNRDLESAQS LNRMEYIV

• "Identification and cloning of the human homolog (JAG1) of the ratJagged1 gene from the Alagille syndrome critical region at 20p12.";,Oda T., Elkahloun A.G., Meltzer P.S., Chandrasekharappa S.C.;,Genomics 43:376-379(1997)., PubMeb:9268641 DOI:10.1006/geno.1997.4820

• "Alagille syndrome is caused by mutations in human Jagged1, whichencodes a ligand for Notch1.";,Li L., Krantz I.D., Deng Y., Genin A., Banta A.B., Collins C.C.,Qi M., Trask B.J., Kuo W.L., Cochran J., Costa T., Pierpont M.E.M.,Rand E.B., Piccoli D.A., Hood L., Spinner N.B.;,Nat. Genet. 16:243-251(1997)., PubMeb:9207788 DOI:10.1038/ng0797-243

• "The human homolog of rat Jagged1 expressed by marrow stroma inhibitsdifferentiation of 32D cells through interaction with Notch1.";,Li L., Milner L.A., Deng Y., Iwata M., Banta A.B., Graf L.,Marcovina S., Friedman C., Trask B.J., Hood L., Torok-Storb B.;,Immunity 8:43-55(1998)., PubMeb:9462510 DOI:10.1016/S1074-7613(00)80457-4

• "Rel/NF-kappaB can trigger the Notch signaling pathway by inducing theexpression of Jagged1, a ligand for Notch receptors.";,Bash J., Zong W.-X., Banga S., Rivera A., Ballard D.W., Ron Y.,Gelinas C.;,EMBO J. 18:2803-2811(1999)., PubMeb:10329626 DOI:10.1093/emboj/18.10.2803

• "Human ligands of the Notch receptor.";,Gray G.E., Mann R.S., Mitsiadis E., Henrique D., Carcangiu M.-L.,Banks A., Leiman J., Ward D., Ish-Horowitz D., Artavanis-Tsakonas S.;,Am. J. Pathol. 154:785-794(1999)., PubMeb:10079256

• "The DNA sequence and comparative analysis of human chromosome 20.";,Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,Rogers J.;,Nature 414:865-871(2001)., PubMeb:11780052 DOI:10.1038/414865a

• "The status, quality, and expansion of the NIH full-length cDNAproject: the Mammalian Gene Collection (MGC).";,Genome Res. 14:2121-2127(2004).,PubMeb:15489334 DOI:10.1101/gr.2596504

• "An antisense oligonucleotide to the notch ligand Jagged enhancesfibroblast growth factor-induced angiogenesis in vitro.";,Zimrin A.B., Pepper M.S., McMahon G.A., Nguyen F., Montesano R.,Maciag T.;,J. Biol. Chem. 271:32499-32502(1996)., PubMeb:8955070 DOI:10.1074/jbc.271.51.32499

• "Mutations in the human Jagged1 gene are responsible for Alagillesyndrome.";,Oda T., Elkahloun A.G., Pike B.L., Okajima K., Krantz I.D., Genin A.,Piccoli D.A., Meltzer P.S., Spinner N.B., Collins F.S.,Chandrasekharappa S.C.;,Nat. Genet. 16:235-242(1997)., PubMeb:9207787 DOI:10.1038/ng0797-235

• "JAGGED1 expression in human embryos: correlation with the Alagillesyndrome phenotype.";,Jones E.A., Clement-Jones M., Wilson D.I.;,J. Med. Genet. 37:658-662(2000)., PubMeb:10978356 DOI:10.1136/jmg.37.9.658

• "A conserved face of the Jagged/Serrate DSL domain is involved inNotch trans-activation and cis-inhibition.";,Cordle J., Johnson S., Tay J.Z., Roversi P., Wilkin M.B.,de Madrid B.H., Shimizu H., Jensen S., Whiteman P., Jin B.,Redfield C., Baron M., Lea S.M., Handford P.A.;,Nat. Struct. Mol. Biol. 15:849-857(2008).,PubMeb:18660822 DOI:10.1038/nsmb.1457

• "Exon 6 of human JAG1 encodes a conserved structural unit.";,Pintar A., Guarnaccia C., Dhir S., Pongor S.;,BMC Struct. Biol. 9:43-43(2009).,PubMeb:19586525 DOI:10.1186/1472-6807-9-43

• "Spectrum and frequency of Jagged1 (JAG1) mutations in Alagillesyndrome patients and their families.";,Krantz I.D., Colliton R.P., Genin A., Rand E.B., Li L., Piccoli D.A.,Spinner N.B.;,Am. J. Hum. Genet. 62:1361-1369(1998)., PubMeb:9585603 DOI:10.1086/301875

• "Mutations in JAGGED1 gene are predominantly sporadic in Alagillesyndrome.";,Crosnier C., Driancourt C., Raynaud N., Dhorne-Pollet S., Pollet N.,Bernard O., Hadchouel M., Meunier-Rotival M.;,Gastroenterology 116:1141-1148(1999)., PubMeb:10220506

• "Jagged-1 mutation analysis in Italian Alagille syndrome patients.";,Pilia G., Uda M., Macis D., Frau F., Crisponi L., Balli F.,Barbera C., Colombo C., Frediani T., Gatti R., Iorio R., Marazzi M.G.,Marcellini M., Musumeci S., Nebbia G., Vajro P., Ruffa G., Zancan L.,Cao A., DeVirgilis S.;,Hum. Mutat. 14:394-400(1999)., PubMeb:10533065DOI:10.1002/(SICI)1098-1004(199911)14:5<394::AID-HUMU5>3.0.CO2-1;

• "Jagged1 (JAG1) mutation detection in an Australian Alagille syndromepopulation.";,Heritage M.L., MacMillan J.C., Colliton R.P., Genin A., Spinner N.B.,Anderson G.J.;,Hum. Mutat. 16:408-416(2000)., PubMeb:11058898DOI:10.1002/1098-1004(200011)16:5<408::AID-HUMU5>3.0.CO2-9;

• "Familial tetralogy of Fallot caused by mutation in the Jagged1gene.";,Eldadah Z.A., Hamosh A., Biery N.J., Montgomery R.A., Duke M.,Elkins R., Dietz H.C.;,Hum. Mol. Genet. 10:163-169(2001)., PubMeb:11152664 DOI:10.1093/hmg/10.2.163

• "Defective intracellular transport and processing of JAG1 missensemutations in Alagille syndrome.";,Morrissette J.J.D., Colliton R.P., Spinner N.B.;,Hum. Mol. Genet. 10:405-413(2001)., PubMeb:11157803 DOI:10.1093/hmg/10.4.405

• "Fifteen novel mutations in the JAGGED1 gene of patients with Alagillesyndrome.";,Crosnier C., Driancourt C., Raynaud N., Hadchouel M.,Meunier-Rotival M.;,Hum. Mutat. 17:72-73(2001)., PubMeb:11139247DOI:10.1002/1098-1004(2001)17:1<72::AID-HUMU11>3.0.CO2-U;

• "Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients.";,Colliton R.P., Bason L., Lu F.-M., Piccoli D.A., Krantz I.D.,Spinner N.B.;,Hum. Mutat. 17:151-152(2001).,PubMeb:11180599DOI:10.1002/1098-1004(200102)17:2<151::AID-HUMU8>3.3.CO2-K;

• "Familial deafness, congenital heart defects, and posteriorembryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of Jagged 1.";,Le Caignec C., Lefevre M., Schott J.J., Chaventre A., Gayet M.,Calais C., Moisan J.P.;,Am. J. Hum. Genet. 71:180-186(2002).,PubMeb:12022040 DOI:10.1086/341327

• "The significance of human Jagged 1 mutations detected in severe casesof extrahepatic biliary atresia.";,Kohsaka T., Yuan Z.-R., Guo S.-X., Tagawa M., Nakamura A., Nakano M.,Kawasasaki H., Inomata Y., Tanaka K., Miyauchi J.;,Hepatology 36:904-912(2002).,PubMeb:12297837 DOI:10.1053/jhep.2002.35820

• "DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutationsin Australian Alagille syndrome patients.";,Heritage M.L., MacMillan J.C., Anderson G.J.;,Hum. Mutat. 20:481-481(2002).,PubMeb:12442286 DOI:10.1002/humu.9095

• "Conditional JAG1 mutation shows the developing heart is moresensitive than developing liver to JAG1 dosage.";,Lu F., Morrissette J.J.D., Spinner N.B.;,Am. J. Hum. Genet. 72:1065-1070(2003).,PubMeb:12649809 DOI:10.1086/374386

• "Identification of 36 novel Jagged1 (JAG1) mutations in patients withAlagille syndrome.";,Roepke A., Kujat A., Graeber M., Giannakudis J., Hansmann I.;,Hum. Mutat. 21:100-100(2003).,PubMeb:12497640 DOI:10.1002/humu.9102

• "Twelve novel JAG1 gene mutations in Polish Alagille syndromepatients.";,Jurkiewicz D., Popowska E., Glaeser C., Hansmann I.,Krajewska-Walasek M.;,Hum. Mutat. 25:321-321(2005).,PubMeb:15712272 DOI:10.1002/humu.9313

• "Jagged1 (JAG1) mutations in Alagille syndrome: increasing themutation detection rate.";,Warthen D.M., Moore E.C., Kamath B.M., Morrissette J.J.D., Sanchez P.,Piccoli D.A., Krantz I.D., Spinner N.B.;,Hum. Mutat. 27:436-443(2006).,PubMeb:16575836 DOI:10.1002/humu.20310