Reviewed, UniProtKB/Swiss-Prot P78504 (JAG1_HUMAN)

Names and origin

Protein names

Recommended name:
    Protein jagged-1
      Short name=Jagged1
      Short name=hJ1
Alternative name(s):
    CD_antigen=CD339

Gene names

Name:	JAG1
Synonyms:	JAGL1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1218 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

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).
Subunit structure	Interacts with NOTCH1, NOTCH2 and NOTCH3 By similarity.
Subcellular location	Membrane; Single-pass type I membrane protein.
Tissue specificity	Widely expressed in adult and fetal tissues. In cervix epithelium expressed in undifferentiated subcolumnar reserve cells and squamous metaplasia. Expression is up-regulated in cervical squamous cell carcinoma. Expressed in bone marrow cell line HS-27a which supports the long-term maintenance of immature progenitor cells.
Developmental stage	Expressed in 32-52 days embryos in the distal cardiac outflow tract and pulmonary artery, major arteries, portal vein, optic vesicle, otocyst, branchial arches, metanephros, pancreas, mesocardium, around the major bronchial branches, and in the neural tube. Ref.10
Involvement in disease	Defects in JAG1 are the cause of Alagille syndrome type 1 (ALGS1) [MIM:118450]. Alagille syndrome is an autosomal dominant multisystem disorder defined clinically 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. Ref.2 Ref.9 Ref.11 Ref.12 Ref.13 Ref.14 Ref.16 Ref.17 Ref.18 Ref.21 Ref.23 Ref.24 Ref.25 Defects in JAG1 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is 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. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent. Ref.9 Ref.15 The mutation Asp-274 is "leaky". Two populations of proteins are produced from this allele. One population is abnormally glycosylated and is retained intracellularly rather than being transported to the cell surface. A second population is normally glycosylated and is transported to the cell surface, where it is able to signal to the Notch receptor. The Asp-274 protein is temperature sensitive, with more abnormally glycosylated (and nonfunctional) molecules produced at higher temperatures. Carriers of this mutation therefore have more than 50% but less than 100% of the normal concentration of molecules on the cell surface. The cardiac-specific phenotype associated with this mutation suggests that the developing heart is more sensitive than the developing liver to decreased dosage of JAG1 protein. Ref.9
Sequence similarities	Contains 1 DSL domain. Contains 15 EGF-like domains.
Sequence caution	The sequence AAC51323.1 differs from that shown. Reason: Frameshift at position 1187.

Ontologies

Keywords
Biological process	Notch signaling pathway
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	EGF-like domain Repeat Signal Transmembrane
Ligand	Calcium
Molecular function	Developmental protein
PTM	Disulfide bond Glycoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	Notch signaling pathway Ref.1 Non-traceable author statement. Source: UniProtKB angiogenesis Ref.8 Non-traceable author statement. Source: UniProtKB cell fate determination Ref.2 Non-traceable author statement. Source: UniProtKB endothelial cell differentiation Ref.4 Non-traceable author statement. Source: UniProtKB hemopoiesis Ref.4 Non-traceable author statement. Source: UniProtKB keratinocyte differentiation Non-traceable author statement. Source: UniProtKB myoblast differentiation Ref.4 Non-traceable author statement. Source: UniProtKB regulation of cell migration Non-traceable author statement. Source: UniProtKB regulation of cell proliferation Ref.4 Non-traceable author statement. Source: UniProtKB
Cellular component	extracellular region Non-traceable author statement. Source: UniProtKB integral to plasma membrane Non-traceable author statement. Source: UniProtKB
Molecular function	Notch binding Ref.1 Non-traceable author statement. Source: UniProtKB calcium ion binding Non-traceable author statement. Source: UniProtKB growth factor activity Non-traceable author statement. Source: UniProtKB structural molecule activity Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 33	33	Potential
	Chain	34 – 1218	1185	Protein jagged-1		PRO_0000007625
Regions
	Topological domain	34 – 1067	1034	Extracellular Potential
	Transmembrane	1068 – 1093	26	Potential
	Topological domain	1094 – 1218	125	Cytoplasmic Potential
	Domain	185 – 229	45	DSL
	Domain	230 – 266	37	EGF-like 1; atypical
	Domain	296 – 334	39	EGF-like 2
	Domain	336 – 372	37	EGF-like 3
	Domain	374 – 410	37	EGF-like 4; calcium-binding Potential
	Domain	412 – 448	37	EGF-like 5; calcium-binding Potential
	Domain	450 – 485	36	EGF-like 6; calcium-binding Potential
	Domain	487 – 523	37	EGF-like 7; calcium-binding Potential
	Domain	525 – 561	37	EGF-like 8
	Domain	574 – 627	54	EGF-like 9
	Domain	629 – 665	37	EGF-like 10; calcium-binding Potential
	Domain	667 – 703	37	EGF-like 11; calcium-binding Potential
	Domain	705 – 741	37	EGF-like 12
	Domain	744 – 780	37	EGF-like 13
	Domain	782 – 818	37	EGF-like 14; calcium-binding Potential
	Domain	820 – 856	37	EGF-like 15; calcium-binding Potential
Amino acid modifications
	Glycosylation	143	1	N-linked (GlcNAc...) Potential
	Glycosylation	217	1	N-linked (GlcNAc...) Potential
	Glycosylation	382	1	N-linked (GlcNAc...) Potential
	Glycosylation	559	1	N-linked (GlcNAc...) Potential
	Glycosylation	745	1	N-linked (GlcNAc...) Potential
	Glycosylation	960	1	N-linked (GlcNAc...) Potential
	Glycosylation	991	1	N-linked (GlcNAc...) Potential
	Glycosylation	1045	1	N-linked (GlcNAc...) Potential
	Glycosylation	1064	1	N-linked (GlcNAc...) Potential
	Disulfide bond	234 ↔ 245		By similarity
	Disulfide bond	238 ↔ 251		By similarity
	Disulfide bond	253 ↔ 262		By similarity
	Disulfide bond	300 ↔ 312		By similarity
	Disulfide bond	306 ↔ 322		By similarity
	Disulfide bond	324 ↔ 333		By similarity
	Disulfide bond	340 ↔ 351		By similarity
	Disulfide bond	345 ↔ 360		By similarity
	Disulfide bond	362 ↔ 371		By similarity
	Disulfide bond	378 ↔ 389		By similarity
	Disulfide bond	383 ↔ 398		By similarity
	Disulfide bond	400 ↔ 409		By similarity
	Disulfide bond	416 ↔ 427		By similarity
	Disulfide bond	421 ↔ 436		By similarity
	Disulfide bond	438 ↔ 447		By similarity
	Disulfide bond	454 ↔ 464		By similarity
	Disulfide bond	458 ↔ 473		By similarity
	Disulfide bond	475 ↔ 484		By similarity
	Disulfide bond	491 ↔ 502		By similarity
	Disulfide bond	496 ↔ 511		By similarity
	Disulfide bond	513 ↔ 522		By similarity
	Disulfide bond	529 ↔ 540		By similarity
	Disulfide bond	534 ↔ 549		By similarity
	Disulfide bond	551 ↔ 560		By similarity
	Disulfide bond	578 ↔ 605		By similarity
	Disulfide bond	599 ↔ 615		By similarity
	Disulfide bond	617 ↔ 626		By similarity
	Disulfide bond	633 ↔ 644		By similarity
	Disulfide bond	638 ↔ 653		By similarity
	Disulfide bond	655 ↔ 664		By similarity
	Disulfide bond	671 ↔ 682		By similarity
	Disulfide bond	676 ↔ 691		By similarity
	Disulfide bond	693 ↔ 702		By similarity
	Disulfide bond	709 ↔ 720		By similarity
	Disulfide bond	714 ↔ 729		By similarity
	Disulfide bond	731 ↔ 740		By similarity
	Disulfide bond	748 ↔ 759		By similarity
	Disulfide bond	753 ↔ 768		By similarity
	Disulfide bond	770 ↔ 779		By similarity
	Disulfide bond	786 ↔ 797		By similarity
	Disulfide bond	791 ↔ 806		By similarity
	Disulfide bond	808 ↔ 817		By similarity
	Disulfide bond	824 ↔ 835		By similarity
	Disulfide bond	829 ↔ 844		By similarity
	Disulfide bond	846 ↔ 855		By similarity
Natural variations
	Natural variant	22 – 25	4	Missing in ALGS1.		VAR_026296
	Natural variant	31	1	A → V in ALGS1. Ref.23		VAR_026297
	Natural variant	33	1	G → D in ALGS1. Ref.18 Ref.25		VAR_026298
	Natural variant	33	1	G → S in ALGS1. Ref.18 Ref.25		VAR_026299
	Natural variant	33	1	G → V in ALGS1. Ref.18 Ref.25		VAR_026300
	Natural variant	37	1	L → S in ALGS1. Ref.16 Ref.18		VAR_013186
	Natural variant	39	1	I → S in ALGS1. Ref.21		VAR_026301
	Natural variant	40	1	L → P in ALGS1. Ref.23 Ref.25		VAR_026302
	Natural variant	45	1	V → L in biliary atresia; extrahepatic. Ref.20		VAR_026303
	Natural variant	53	1	N → D in biliary atresia; extrahepatic. Ref.20		VAR_026304
	Natural variant	65	1	K → M in biliary atresia; extrahepatic. Ref.20		VAR_026305
	Natural variant	75	1	F → S in ALGS1. Ref.23		VAR_026306
	Natural variant	78	1	C → S in ALGS1. Ref.18		VAR_026307
	Natural variant	79	1	L → H in ALGS1. Ref.12		VAR_013187
	Natural variant	92	1	C → R in ALGS1. Ref.25		VAR_026308
	Natural variant	92	1	C → Y in ALGS1. Ref.25		VAR_026309
	Natural variant	120	1	I → N in ALGS1. Ref.24 Ref.25		VAR_026310
	Natural variant	123	1	P → S in ALGS1. Ref.23		VAR_026311
	Natural variant	127	1	A → T in ALGS1. Ref.12		VAR_013188
	Natural variant	129	1	P → R in ALGS1. Ref.12		VAR_013189
	Natural variant	146	1	V → I: dbSNP rs6040067.		VAR_048985
	Natural variant	152	1	I → T in ALGS1. Ref.13		VAR_013190
	Natural variant	155	1	A → P in ALGS1. Ref.25		VAR_026312
	Natural variant	163	1	P → L in ALGS1. Ref.12 Ref.23		VAR_013191
	Natural variant	163	1	P → R in ALGS1. Ref.12 Ref.23		VAR_026313
	Natural variant	181	1	Y → N in ALGS1. Ref.18		VAR_026314
	Natural variant	184	1	R → C in ALGS1. Ref.2 Ref.11 Ref.12 Ref.13 Ref.21		VAR_013192
	Natural variant	184	1	R → G in ALGS1. Ref.2 Ref.11 Ref.12 Ref.13 Ref.21		VAR_013193
	Natural variant	184	1	R → H in ALGS1. Ref.2 Ref.11 Ref.12 Ref.13 Ref.21		VAR_013194
	Natural variant	184	1	R → L in ALGS1. Ref.2 Ref.11 Ref.12 Ref.13 Ref.21		VAR_013195
	Natural variant	187	1	C → S in ALGS1. Ref.12 Ref.24		VAR_013196
	Natural variant	187	1	C → Y in ALGS1. Ref.12 Ref.24		VAR_026315
	Natural variant	203	1	R → K in biliary atresia; extrahepatic. Ref.20		VAR_026316
	Natural variant	220	1	C → F in ALGS1. Ref.17 Ref.25		VAR_013197
	Natural variant	224	1	W → C in ALGS1. Ref.23		VAR_026317
	Natural variant	229	1	C → G in ALGS1. Ref.12 Ref.14		VAR_013198
	Natural variant	229	1	C → Y in ALGS1. Ref.12 Ref.14		VAR_013199
	Natural variant	234	1	C → Y in deafness; with congenital heart defects and posterior embryotoxon. Ref.19		VAR_026318
	Natural variant	252	1	R → G in ALGS1. Ref.25		VAR_026319
	Natural variant	256	1	G → S in ALGS1. Ref.25		VAR_026320
	Natural variant	269	1	P → L in ALGS1. Ref.23		VAR_026321
	Natural variant	271	1	C → R in ALGS1. Ref.25		VAR_026322
	Natural variant	274	1	G → D in TOF; temperature sensitive mutation. Ref.15		VAR_013200
	Natural variant	284	1	C → F in ALGS1. Ref.12		VAR_013201
	Natural variant	288	1	W → C in ALGS1. Ref.12		VAR_013202
	Natural variant	386	1	G → R in ALGS1. Ref.14		VAR_013203
	Natural variant	438	1	C → F in ALGS1. Ref.12		VAR_013204
	Natural variant	504	1	N → S in ALGS1. Ref.25		VAR_026323
	Natural variant	690	1	Y → D in biliary atresia; extrahepatic. Ref.25 Ref.20		VAR_026324
	Natural variant	693	1	C → Y in ALGS1. Ref.25		VAR_026325
	Natural variant	714	1	C → Y in ALGS1. Ref.18		VAR_026326
	Natural variant	731	1	C → S in ALGS1. Ref.12		VAR_013205
	Natural variant	740	1	C → R in ALGS1. Ref.12 Ref.25		VAR_013206
	Natural variant	753	1	C → R in ALGS1. Ref.17		VAR_013207
	Natural variant	818	1	R → K Ref.25		VAR_026327
	Natural variant	871	1	P → R in biliary atresia; extrahepatic; could be a polymorphism. Ref.20		VAR_026328
	Natural variant	889	1	R → Q in ALGS1. Ref.25		VAR_026329
	Natural variant	902	1	C → S in ALGS1. Ref.18		VAR_026330
	Natural variant	908	1	H → Q in biliary atresia; extrahepatic. Ref.20		VAR_026331
	Natural variant	911	1	C → Y in ALGS1. Ref.25		VAR_026332
	Natural variant	913	1	S → R in ALGS1. Ref.21		VAR_026333
	Natural variant	921	1	L → P in biliary atresia; extrahepatic. Ref.20		VAR_026334
	Natural variant	937	1	R → Q in ALGS1. Ref.23		VAR_026335
	Natural variant	1055 – 1056	2	VR → G in ALGS1.		VAR_026336
	Natural variant	1213	1	R → Q in biliary atresia; extrahepatic. Ref.20		VAR_026337
Experimental info
	Sequence conflict	117	1	R → P in AAB39007. Ref.5
	Sequence conflict	227	1	P → R in AAC51731. Ref.1
	Sequence conflict	498	1	N → D in AAC51731. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	P78504-1 [UniParc]. Last modified May 2, 2002. Version 3. Checksum: F36EE9FBF64DF162	FASTA	1,218	133,799
	10 20 30 40 50 60 MRSPRTRGRS GRPLSLLLAL LCALRAKVCG ASGQFELEIL SMQNVNGELQ NGNCCGGARN 70 80 90 100 110 120 PGDRKCTRDE CDTYFKVCLK EYQSRVTAGG PCSFGSGSTP VIGGNTFNLK ASRGNDRNRI 130 140 150 160 170 180 VLPFSFAWPR SYTLLVEAWD SSNDTVQPDS IIEKASHSGM INPSRQWQTL KQNTGVAHFE 190 200 210 220 230 240 YQIRVTCDDY YYGFGCNKFC RPRDDFFGHY ACDQNGNKTC MEGWMGPECN RAICRQGCSP 250 260 270 280 290 300 KHGSCKLPGD CRCQYGWQGL YCDKCIPHPG CVHGICNEPW QCLCETNWGG QLCDKDLNYC 310 320 330 340 350 360 GTHQPCLNGG TCSNTGPDKY QCSCPEGYSG PNCEIAEHAC LSDPCHNRGS CKETSLGFEC 370 380 390 400 410 420 ECSPGWTGPT CSTNIDDCSP NNCSHGGTCQ DLVNGFKCVC PPQWTGKTCQ LDANECEAKP 430 440 450 460 470 480 CVNAKSCKNL IASYYCDCLP GWMGQNCDIN INDCLGQCQN DASCRDLVNG YRCICPPGYA 490 500 510 520 530 540 GDHCERDIDE CASNPCLNGG HCQNEINRFQ CLCPTGFSGN LCQLDIDYCE PNPCQNGAQC 550 560 570 580 590 600 YNRASDYFCK CPEDYEGKNC SHLKDHCRTT PCEVIDSCTV AMASNDTPEG VRYISSNVCG 610 620 630 640 650 660 PHGKCKSQSG GKFTCDCNKG FTGTYCHENI NDCESNPCRN GGTCIDGVNS YKCICSDGWE 670 680 690 700 710 720 GAYCETNIND CSQNPCHNGG TCRDLVNDFY CDCKNGWKGK TCHSRDSQCD EATCNNGGTC 730 740 750 760 770 780 YDEGDAFKCM CPGGWEGTTC NIARNSSCLP NPCHNGGTCV VNGESFTCVC KEGWEGPICA 790 800 810 820 830 840 QNTNDCSPHP CYNSGTCVDG DNWYRCECAP GFAGPDCRIN INECQSSPCA FGATCVDEIN 850 860 870 880 890 900 GYRCVCPPGH SGAKCQEVSG RPCITMGSVI PDGAKWDDDC NTCQCLNGRI ACSKVWCGPR 910 920 930 940 950 960 PCLLHKGHSE CPSGQSCIPI LDDQCFVHPC TGVGECRSSS LQPVKTKCTS DSYYQDNCAN 970 980 990 1000 1010 1020 ITFTFNKEMM SPGLTTEHIC SELRNLNILK NVSAEYSIYI ACEPSPSANN EIHVAISAED 1030 1040 1050 1060 1070 1080 IRDDGNPIKE ITDKIIDLVS KRDGNSSLIA AVAEVRVQRR PLKNRTDFLV PLLSSVLTVA 1090 1100 1110 1120 1130 1140 WICCLVTAFY WCLRKRRKPG SHTHSASEDN TTNNVREQLN QIKNPIEKHG ANTVPIKDYE 1150 1160 1170 1180 1190 1200 NKNSKMSKIR THNSEVEEDD MDKHQQKARF AKQPAYTLVD REEKPPNGTP TKHPNWTNKQ 1210 DNRDLESAQS LNRMEYIV

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and cloning of the human homolog (JAG1) of the rat Jagged1 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) [PubMed: 9268641] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Alagille syndrome is caused by mutations in human Jagged1, which encodes 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) [PubMed: 9207788] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALGS1 CYS-184. Tissue: Bone marrow.
[3]	"The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation 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) [PubMed: 9462510] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
[4]	"Rel/NF-kappaB can trigger the Notch signaling pathway by inducing the expression 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) [PubMed: 10329626] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Cervix carcinoma.
[5]	"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) [PubMed: 10079256] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[6]	"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) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[8]	"An antisense oligonucleotide to the notch ligand Jagged enhances fibroblast 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) [PubMed: 8955070] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 14-1218. Tissue: Umbilical vein endothelial cell.
[9]	"Mutations in the human Jagged1 gene are responsible for Alagille syndrome." 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) [PubMed: 9207787] [Abstract] Cited for: DISEASE.
[10]	"JAGGED1 expression in human embryos: correlation with the Alagille syndrome phenotype." Jones E.A., Clement-Jones M., Wilson D.I. J. Med. Genet. 37:658-662(2000) [PubMed: 10978356] [Abstract] Cited for: DEVELOPMENTAL STAGE.
[11]	"Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome 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) [PubMed: 9585603] [Abstract] Cited for: VARIANTS ALGS1 CYS-184 AND HIS-184.
[12]	"Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome." Crosnier C., Driancourt C., Raynaud N., Dhorne-Pollet S., Pollet N., Bernard O., Hadchouel M., Meunier-Rotival M. Gastroenterology 116:1141-1148(1999) [PubMed: 10220506] [Abstract] Cited for: VARIANTS ALGS1 HIS-79; THR-127; ARG-129; LEU-163; GLY-184; SER-187; GLY-229; PHE-284; CYS-288; PHE-438; SER-731 AND ARG-740.
[13]	"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) [PubMed: 10533065] [Abstract] Cited for: VARIANTS ALGS1 THR-152 AND LEU-184.
[14]	"Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population." Heritage M.L., MacMillan J.C., Colliton R.P., Genin A., Spinner N.B., Anderson G.J. Hum. Mutat. 16:408-416(2000) [PubMed: 11058898] [Abstract] Cited for: VARIANTS ALGS1 TYR-229 AND ARG-386.
[15]	"Familial tetralogy of Fallot caused by mutation in the Jagged1 gene." 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) [PubMed: 11152664] [Abstract] Cited for: VARIANT TOF ASP-274.
[16]	"Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome." Morrissette J.J.D., Colliton R.P., Spinner N.B. Hum. Mol. Genet. 10:405-413(2001) [PubMed: 11157803] [Abstract] Cited for: VARIANT ALGS1 SER-37.
[17]	"Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome." Crosnier C., Driancourt C., Raynaud N., Hadchouel M., Meunier-Rotival M. Hum. Mutat. 17:72-73(2001) [PubMed: 11139247] [Abstract] Cited for: VARIANTS ALGS1 PHE-220 AND ARG-753.
[18]	"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) [PubMed: 11180599] [Abstract] Cited for: VARIANTS ALGS1 ASP-33; SER-37; SER-78; ASN-181; TYR-714 AND SER-902.
[19]	"Familial deafness, congenital heart defects, and posterior embryotoxon 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) [PubMed: 12022040] [Abstract] Cited for: VARIANT DEAFNESS TYR-234.
[20]	"The significance of human Jagged 1 mutations detected in severe cases of 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) [PubMed: 12297837] [Abstract] Cited for: VARIANTS BILIARY ATRESIA LEU-45; ASP-53; MET-65; LYS-203; ASP-690; ARG-871; GLN-908; PRO-921 AND GLN-1213.
[21]	"DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian Alagille syndrome patients." Heritage M.L., MacMillan J.C., Anderson G.J. Hum. Mutat. 20:481-481(2002) [PubMed: 12442286] [Abstract] Cited for: VARIANTS ALGS1 SER-39; HIS-184 AND ARG-913.
[22]	"Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage." Lu F., Morrissette J.J.D., Spinner N.B. Am. J. Hum. Genet. 72:1065-1070(2003) [PubMed: 12649809] [Abstract] Cited for: CHARACTERIZATION OF VARIANT ASP-274.
[23]	"Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome." Roepke A., Kujat A., Graeber M., Giannakudis J., Hansmann I. Hum. Mutat. 21:100-100(2003) [PubMed: 12497640] [Abstract] Cited for: VARIANTS ALGS1 VAL-31; PRO-40; SER-75; SER-123; ARG-163; CYS-224; LEU-269 AND GLN-937.
[24]	"Twelve novel JAG1 gene mutations in Polish Alagille syndrome patients." Jurkiewicz D., Popowska E., Glaeser C., Hansmann I., Krajewska-Walasek M. Hum. Mutat. 25:321-321(2005) [PubMed: 15712272] [Abstract] Cited for: VARIANTS ALGS1 ASN-120 AND TYR-187.
[25]	"Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation 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) [PubMed: 16575836] [Abstract] Cited for: VARIANTS ALGS1 22-CYS--ARG-25 DEL; SER-33; VAL-33; ARG-92; TYR-92; PRO-155; GLY-252; SER-256; ARG-271; SER-504; TYR-693; GLN-889; TYR-911 AND 1055-VAL-ARG-1056 GLY DELINS, VARIANT LYS-818.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

Cross-references

Sequence databases

EMBLGenBankDDBJ

AF003837 mRNA. Translation: AAC51731.1.
U73936 mRNA. Translation: AAC52020.1.
AF028593 mRNA. Translation: AAB84053.1.
U61276 mRNA. Translation: AAB39007.1.
AL035456 Genomic DNA. Translation: CAC07198.1.
BC126205 mRNA. Translation: AAI26206.1.
BC126207 mRNA. Translation: AAI26208.1.
U77720 mRNA. Translation: AAC51323.1. Frameshift.

IPI

IPI00099650.

RefSeq

NP_000205.1.

UniGene

Hs.224012
Hs.714736

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2VJ2	X-ray	2.50	A/B	185-335	[»]

DisProt

DP00418.

ModBase

Search...

PTM databases

PhosphoSite

P78504.

Proteomic databases

PeptideAtlas

P78504.

PRIDE

P78504.

Genome annotation databases

Ensembl

ENSG00000101384. Homo sapiens. [Contig view]

GeneID

182.

KEGG

hsa:182.

Organism-specific databases

GeneCards

GC20M010566.

H-InvDB

HIX0040494.

HGNC

HGNC:6188. JAG1.

HPA

CAB010343.

MIM

118450. phenotype.
187500. phenotype.
601920. gene+phenotype.

Orphanet

52. Alagille syndrome.
3303. Tetralogy of Fallot.

PharmGKB

PA29986.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

P78504.

HOVERGEN

P78504.

OMA

P78504. RYISSNV.

Enzyme and pathway databases

Reactome

REACT_299. Signaling by Notch.

Gene expression databases

ArrayExpress

P78504.

Bgee

P78504.

CleanEx

HS_JAG1.

GermOnline

ENSG00000101384. Homo sapiens.

Family and domain databases

InterPro

IPR001774. DSL.
IPR006209. EGF.
IPR006210. EGF-like.
IPR013032. EGF-like_reg_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_CS.
IPR001438. EGF_2.
IPR000742. EGF_3.
IPR001881. EGF_Ca_bd.
IPR018097. EGF_Ca_bd_CS.
IPR011651. Notch_ligand_N.
IPR001007. VWF_C.
[Graphical view]

Pfam

PF01414. DSL. 1 hit.
PF00008. EGF. 12 hits.
PF07657. MNNL. 1 hit.
[Graphical view]

PRINTS

PR00010. EGFBLOOD.

SMART

SM00051. DSL. 1 hit.
SM00181. EGF. 6 hits.
SM00179. EGF_CA. 10 hits.
SM00214. VWC. 1 hit.
[Graphical view]

PROSITE

PS00010. ASX_HYDROXYL. 10 hits.
PS51051. DSL. 1 hit.
PS00022. EGF_1. 16 hits.
PS01186. EGF_2. 12 hits.
PS50026. EGF_3. 15 hits.
PS01187. EGF_CA. 8 hits.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

744.

SOURCE

Search...

Entry information

Entry name

JAG1_HUMAN

Accession

Primary (citable) accession number: P78504
Secondary accession number(s): A0AV43 , O14902, O15122, Q15816

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2002
Last sequence update:	May 2, 2002
Last modified:	June 16, 2009
This is version 100 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)