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P78504

- JAG1_HUMAN

UniProt

P78504 - JAG1_HUMAN

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Protein

Protein jagged-1

Gene

JAG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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).By similarity2 Publications

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. growth factor activity Source: UniProtKB
  3. Notch binding Source: UniProtKB
  4. structural molecule activity Source: UniProtKB

GO - Biological processi

  1. angiogenesis Source: UniProtKB
  2. aorta morphogenesis Source: BHF-UCL
  3. auditory receptor cell differentiation Source: Ensembl
  4. blood vessel remodeling Source: Ensembl
  5. cardiac neural crest cell development involved in outflow tract morphogenesis Source: BHF-UCL
  6. cardiac right ventricle morphogenesis Source: BHF-UCL
  7. cardiac septum morphogenesis Source: BHF-UCL
  8. cell fate determination Source: UniProtKB
  9. ciliary body morphogenesis Source: Ensembl
  10. distal tubule development Source: Ensembl
  11. endocardial cushion cell development Source: BHF-UCL
  12. endothelial cell differentiation Source: UniProtKB
  13. hemopoiesis Source: UniProtKB
  14. keratinocyte differentiation Source: UniProtKB
  15. loop of Henle development Source: Ensembl
  16. morphogenesis of an epithelial sheet Source: Ensembl
  17. myoblast differentiation Source: UniProtKB
  18. negative regulation of fat cell differentiation Source: Ensembl
  19. negative regulation of neuron differentiation Source: Ensembl
  20. negative regulation of stem cell differentiation Source: UniProtKB
  21. nervous system development Source: UniProtKB
  22. neuronal stem cell maintenance Source: UniProtKB
  23. Notch receptor processing Source: Reactome
  24. Notch signaling involved in heart development Source: BHF-UCL
  25. Notch signaling pathway Source: UniProtKB
  26. positive regulation of myeloid cell differentiation Source: Ensembl
  27. positive regulation of Notch signaling pathway Source: Ensembl
  28. positive regulation of osteoblast differentiation Source: Ensembl
  29. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  30. pulmonary artery morphogenesis Source: BHF-UCL
  31. pulmonary valve morphogenesis Source: BHF-UCL
  32. regulation of cell migration Source: UniProtKB
  33. regulation of cell proliferation Source: UniProtKB
  34. response to muramyl dipeptide Source: Ensembl
  35. T cell mediated immunity Source: UniProt
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Notch signaling pathway

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_118614. Activated NOTCH1 Transmits Signal to the Nucleus.
REACT_118636. Signaling by NOTCH4.
REACT_118862. Signaling by NOTCH3.
REACT_160089. Constitutive Signaling by NOTCH1 HD Domain Mutants.
REACT_160106. Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant.
REACT_160205. NOTCH2 Activation and Transmission of Signal to the Nucleus.
REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
SignaLinkiP78504.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein jagged-1
Short name:
Jagged1
Short name:
hJ1
Alternative name(s):
CD_antigen: CD339
Gene namesi
Name:JAG1
Synonyms:JAGL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 20

Organism-specific databases

HGNCiHGNC:6188. JAG1.

Subcellular locationi

GO - Cellular componenti

  1. apical part of cell Source: Ensembl
  2. extracellular region Source: UniProtKB
  3. integral component of plasma membrane Source: UniProtKB
  4. membrane Source: UniProtKB
  5. plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

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.13 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 254Missing in ALGS1. 1 Publication
VAR_026296
Natural varianti31 – 311A → V in ALGS1. 1 Publication
VAR_026297
Natural varianti33 – 331G → D in ALGS1. 1 Publication
VAR_026298
Natural varianti33 – 331G → S in ALGS1. 1 Publication
VAR_026299
Natural varianti33 – 331G → V in ALGS1. 1 Publication
VAR_026300
Natural varianti37 – 371L → S in ALGS1. 2 Publications
VAR_013186
Natural varianti39 – 391I → S in ALGS1. 1 Publication
VAR_026301
Natural varianti40 – 401L → P in ALGS1. 1 Publication
VAR_026302
Natural varianti75 – 751F → S in ALGS1. 1 Publication
VAR_026306
Natural varianti78 – 781C → S in ALGS1. 1 Publication
VAR_026307
Natural varianti79 – 791L → H in ALGS1. 1 Publication
VAR_013187
Natural varianti92 – 921C → R in ALGS1. 1 Publication
VAR_026308
Natural varianti92 – 921C → Y in ALGS1. 1 Publication
VAR_026309
Natural varianti120 – 1201I → N in ALGS1. 1 Publication
VAR_026310
Natural varianti123 – 1231P → S in ALGS1. 1 Publication
VAR_026311
Natural varianti127 – 1271A → T in ALGS1. 1 Publication
VAR_013188
Natural varianti129 – 1291P → R in ALGS1. 1 Publication
VAR_013189
Natural varianti152 – 1521I → T in ALGS1. 1 Publication
VAR_013190
Natural varianti155 – 1551A → P in ALGS1. 1 Publication
VAR_026312
Natural varianti163 – 1631P → L in ALGS1. 1 Publication
VAR_013191
Natural varianti163 – 1631P → R in ALGS1. 1 Publication
VAR_026313
Natural varianti181 – 1811Y → N in ALGS1. 1 Publication
VAR_026314
Natural varianti184 – 1841R → C in ALGS1. 2 Publications
VAR_013192
Natural varianti184 – 1841R → G in ALGS1. 1 Publication
VAR_013193
Natural varianti184 – 1841R → H in ALGS1. 2 Publications
VAR_013194
Natural varianti184 – 1841R → L in ALGS1. 1 Publication
VAR_013195
Natural varianti187 – 1871C → S in ALGS1. 1 Publication
VAR_013196
Natural varianti187 – 1871C → Y in ALGS1. 1 Publication
VAR_026315
Natural varianti220 – 2201C → F in ALGS1. 1 Publication
VAR_013197
Natural varianti224 – 2241W → C in ALGS1. 1 Publication
VAR_026317
Natural varianti229 – 2291C → G in ALGS1. 1 Publication
VAR_013198
Natural varianti229 – 2291C → Y in ALGS1. 1 Publication
VAR_013199
Natural varianti252 – 2521R → G in ALGS1. 1 Publication
VAR_026319
Natural varianti256 – 2561G → S in ALGS1. 1 Publication
VAR_026320
Natural varianti269 – 2691P → L in ALGS1. 1 Publication
VAR_026321
Natural varianti271 – 2711C → R in ALGS1. 1 Publication
VAR_026322
Natural varianti284 – 2841C → F in ALGS1. 1 Publication
VAR_013201
Natural varianti288 – 2881W → C in ALGS1. 1 Publication
VAR_013202
Natural varianti386 – 3861G → R in ALGS1. 1 Publication
VAR_013203
Natural varianti436 – 4361C → W in ALGS1. 1 Publication
VAR_071513
Natural varianti438 – 4381C → F in ALGS1. 1 Publication
VAR_013204
Natural varianti504 – 5041N → S in ALGS1. 1 Publication
VAR_026323
Natural varianti693 – 6931C → Y in ALGS1. 1 Publication
VAR_026325
Natural varianti714 – 7141C → Y in ALGS1. 1 Publication
VAR_026326
Natural varianti731 – 7311C → S in ALGS1. 1 Publication
VAR_013205
Natural varianti740 – 7401C → R in ALGS1. 1 Publication
VAR_013206
Natural varianti753 – 7531C → R in ALGS1. 1 Publication
VAR_013207
Natural varianti889 – 8891R → Q in ALGS1. 1 Publication
VAR_026329
Natural varianti902 – 9021C → S in ALGS1. 1 Publication
VAR_026330
Natural varianti911 – 9111C → Y in ALGS1. 1 Publication
VAR_026332
Natural varianti913 – 9131S → R in ALGS1. 1 Publication
VAR_026333
Natural varianti937 – 9371R → Q in ALGS1. 1 Publication
Corresponds to variant rs145895196 [ dbSNP | Ensembl ].
VAR_026335
Natural varianti1055 – 10562VR → G in ALGS1.
VAR_026336
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti274 – 2741G → D in TOF; temperature sensitive mutation; the protein is abnormally glycosylated and retained intracellularly. 1 Publication
Corresponds to variant rs28939668 [ dbSNP | Ensembl ].
VAR_013200

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi207 – 2071F → A: Strongly reduced NOTCH1 binding. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi118450. phenotype.
187500. phenotype.
601920. gene+phenotype.
Orphaneti261600. Alagille syndrome due to 20p12 microdeletion.
261619. Alagille syndrome due to a JAG1 point mutation.
3303. Tetralogy of Fallot.
PharmGKBiPA29986.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3333Sequence AnalysisAdd
BLAST
Chaini34 – 12181185Protein jagged-1PRO_0000007625Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi143 – 1431N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi187 ↔ 196
Disulfide bondi200 ↔ 212
Glycosylationi217 – 2171N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi220 ↔ 229
Disulfide bondi234 ↔ 245
Disulfide bondi238 ↔ 251
Disulfide bondi253 ↔ 262
Disulfide bondi265 ↔ 276
Disulfide bondi271 ↔ 282
Disulfide bondi284 ↔ 293
Disulfide bondi300 ↔ 312
Disulfide bondi306 ↔ 322
Disulfide bondi324 ↔ 333
Disulfide bondi340 ↔ 351By similarity
Disulfide bondi345 ↔ 360By similarity
Disulfide bondi362 ↔ 371By similarity
Disulfide bondi378 ↔ 389By similarity
Glycosylationi382 – 3821N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi383 ↔ 398By similarity
Disulfide bondi400 ↔ 409By similarity
Disulfide bondi416 ↔ 427By similarity
Disulfide bondi421 ↔ 436By similarity
Disulfide bondi438 ↔ 447By similarity
Disulfide bondi454 ↔ 464By similarity
Disulfide bondi458 ↔ 473By similarity
Disulfide bondi475 ↔ 484By similarity
Disulfide bondi491 ↔ 502By similarity
Disulfide bondi496 ↔ 511By similarity
Disulfide bondi513 ↔ 522By similarity
Disulfide bondi529 ↔ 540By similarity
Disulfide bondi534 ↔ 549By similarity
Disulfide bondi551 ↔ 560By similarity
Glycosylationi559 – 5591N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi578 ↔ 605By similarity
Disulfide bondi599 ↔ 615By similarity
Disulfide bondi617 ↔ 626By similarity
Disulfide bondi633 ↔ 644By similarity
Disulfide bondi638 ↔ 653By similarity
Disulfide bondi655 ↔ 664By similarity
Disulfide bondi671 ↔ 682By similarity
Disulfide bondi676 ↔ 691By similarity
Disulfide bondi693 ↔ 702By similarity
Disulfide bondi709 ↔ 720By similarity
Disulfide bondi714 ↔ 729By similarity
Disulfide bondi731 ↔ 740By similarity
Glycosylationi745 – 7451N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi748 ↔ 759By similarity
Disulfide bondi753 ↔ 768By similarity
Disulfide bondi770 ↔ 779By similarity
Disulfide bondi786 ↔ 797By similarity
Disulfide bondi791 ↔ 806By similarity
Disulfide bondi808 ↔ 817By similarity
Disulfide bondi824 ↔ 835By similarity
Disulfide bondi829 ↔ 844By similarity
Disulfide bondi846 ↔ 855By similarity
Glycosylationi960 – 9601N-linked (GlcNAc...)Sequence Analysis
Glycosylationi991 – 9911N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1045 – 10451N-linked (GlcNAc...)Sequence Analysis
Glycosylationi1064 – 10641N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiP78504.
PaxDbiP78504.
PeptideAtlasiP78504.
PRIDEiP78504.

PTM databases

PhosphoSiteiP78504.

Expressioni

Tissue specificityi

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 stagei

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.1 Publication

Gene expression databases

BgeeiP78504.
CleanExiHS_JAG1.
ExpressionAtlasiP78504. baseline and differential.
GenevestigatoriP78504.

Organism-specific databases

HPAiCAB010343.
HPA021555.

Interactioni

Subunit structurei

Interacts with NOTCH2 and NOTCH3 (By similarity). Interacts with NOTCH1 (in the presence of calcium ions).By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CD46P155295EBI-2847071,EBI-2623451

Protein-protein interaction databases

BioGridi106689. 9 interactions.
DIPiDIP-46371N.
IntActiP78504. 8 interactions.
MINTiMINT-2804836.
STRINGi9606.ENSP00000254958.

Structurei

Secondary structure

1
1218
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi33 – 4311
Beta strandi52 – 576
Turni61 – 633
Beta strandi73 – 819
Beta strandi88 – 903
Beta strandi95 – 984
Beta strandi103 – 1053
Beta strandi118 – 1247
Beta strandi130 – 14011
Beta strandi143 – 1475
Beta strandi150 – 16011
Beta strandi163 – 17210
Beta strandi174 – 18714
Turni193 – 1964
Beta strandi203 – 2053
Beta strandi208 – 2125
Beta strandi218 – 2203
Turni226 – 2294
Turni240 – 2423
Beta strandi257 – 2593
Turni268 – 2703
Beta strandi273 – 2753
Beta strandi277 – 2804
Beta strandi286 – 2894
Turni290 – 2934
Beta strandi295 – 2973
Helixi299 – 3035
Beta strandi311 – 3166
Beta strandi319 – 3235
Beta strandi328 – 3303

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2KB9NMR-A252-295[»]
2VJ2X-ray2.50A/B185-335[»]
4CBZX-ray2.50A/B32-335[»]
4CC0X-ray2.32A/B32-335[»]
4CC1X-ray2.84A/B32-335[»]
DisProtiDP00418.
ProteinModelPortaliP78504.
SMRiP78504. Positions 32-865.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP78504.

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini34 – 10671034ExtracellularSequence AnalysisAdd
BLAST
Topological domaini1094 – 1218125CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1068 – 109326HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini185 – 22945DSLPROSITE-ProRule annotationAdd
BLAST
Domaini230 – 26334EGF-like 1PROSITE-ProRule annotationAdd
BLAST
Domaini264 – 29431EGF-like 2; atypicalPROSITE-ProRule annotationAdd
BLAST
Domaini296 – 33439EGF-like 3PROSITE-ProRule annotationAdd
BLAST
Domaini336 – 37237EGF-like 4PROSITE-ProRule annotationAdd
BLAST
Domaini374 – 41037EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini412 – 44837EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini450 – 48536EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini487 – 52337EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini525 – 56137EGF-like 9PROSITE-ProRule annotationAdd
BLAST
Domaini586 – 62742EGF-like 10PROSITE-ProRule annotationAdd
BLAST
Domaini629 – 66537EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini667 – 70337EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini705 – 74137EGF-like 13PROSITE-ProRule annotationAdd
BLAST
Domaini744 – 78037EGF-like 14PROSITE-ProRule annotationAdd
BLAST
Domaini782 – 81837EGF-like 15; calcium-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini820 – 85637EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni199 – 2079Important for interaction with NOTCH1

Domaini

The second EGF-like domain is atypical.2 Publications

Sequence similaritiesi

Contains 1 DSL domain.PROSITE-ProRule annotation
Contains 16 EGF-like domains.PROSITE-ProRule annotation

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG12793.
GeneTreeiENSGT00760000118786.
HOGENOMiHOG000113124.
HOVERGENiHBG031645.
InParanoidiP78504.
KOiK06052.
OMAiHPNWTNK.
OrthoDBiEOG7BKCSS.
PhylomeDBiP78504.
TreeFamiTF351835.

Family and domain databases

InterProiIPR001774. DSL.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR026219. Jagged/Serrate.
IPR011651. Notch_ligand_N.
IPR001007. VWF_C.
[Graphical view]
PfamiPF01414. DSL. 1 hit.
PF00008. EGF. 10 hits.
PF07645. EGF_CA. 1 hit.
PF07657. MNNL. 1 hit.
[Graphical view]
PRINTSiPR02059. JAGGEDFAMILY.
SMARTiSM00051. DSL. 1 hit.
SM00181. EGF. 6 hits.
SM00179. EGF_CA. 10 hits.
SM00214. VWC. 1 hit.
[Graphical view]
SUPFAMiSSF57184. SSF57184. 3 hits.
PROSITEiPS00010. 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]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P78504-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRSPRTRGRS GRPLSLLLAL LCALRAKVCG ASGQFELEIL SMQNVNGELQ
60 70 80 90 100
NGNCCGGARN PGDRKCTRDE CDTYFKVCLK EYQSRVTAGG PCSFGSGSTP
110 120 130 140 150
VIGGNTFNLK ASRGNDRNRI VLPFSFAWPR SYTLLVEAWD SSNDTVQPDS
160 170 180 190 200
IIEKASHSGM INPSRQWQTL KQNTGVAHFE YQIRVTCDDY YYGFGCNKFC
210 220 230 240 250
RPRDDFFGHY ACDQNGNKTC MEGWMGPECN RAICRQGCSP KHGSCKLPGD
260 270 280 290 300
CRCQYGWQGL YCDKCIPHPG CVHGICNEPW QCLCETNWGG QLCDKDLNYC
310 320 330 340 350
GTHQPCLNGG TCSNTGPDKY QCSCPEGYSG PNCEIAEHAC LSDPCHNRGS
360 370 380 390 400
CKETSLGFEC ECSPGWTGPT CSTNIDDCSP NNCSHGGTCQ DLVNGFKCVC
410 420 430 440 450
PPQWTGKTCQ LDANECEAKP CVNAKSCKNL IASYYCDCLP GWMGQNCDIN
460 470 480 490 500
INDCLGQCQN DASCRDLVNG YRCICPPGYA GDHCERDIDE CASNPCLNGG
510 520 530 540 550
HCQNEINRFQ CLCPTGFSGN LCQLDIDYCE PNPCQNGAQC YNRASDYFCK
560 570 580 590 600
CPEDYEGKNC SHLKDHCRTT PCEVIDSCTV AMASNDTPEG VRYISSNVCG
610 620 630 640 650
PHGKCKSQSG GKFTCDCNKG FTGTYCHENI NDCESNPCRN GGTCIDGVNS
660 670 680 690 700
YKCICSDGWE GAYCETNIND CSQNPCHNGG TCRDLVNDFY CDCKNGWKGK
710 720 730 740 750
TCHSRDSQCD EATCNNGGTC YDEGDAFKCM CPGGWEGTTC NIARNSSCLP
760 770 780 790 800
NPCHNGGTCV VNGESFTCVC KEGWEGPICA QNTNDCSPHP CYNSGTCVDG
810 820 830 840 850
DNWYRCECAP GFAGPDCRIN INECQSSPCA FGATCVDEIN GYRCVCPPGH
860 870 880 890 900
SGAKCQEVSG RPCITMGSVI PDGAKWDDDC NTCQCLNGRI ACSKVWCGPR
910 920 930 940 950
PCLLHKGHSE CPSGQSCIPI LDDQCFVHPC TGVGECRSSS LQPVKTKCTS
960 970 980 990 1000
DSYYQDNCAN ITFTFNKEMM SPGLTTEHIC SELRNLNILK NVSAEYSIYI
1010 1020 1030 1040 1050
ACEPSPSANN EIHVAISAED IRDDGNPIKE ITDKIIDLVS KRDGNSSLIA
1060 1070 1080 1090 1100
AVAEVRVQRR PLKNRTDFLV PLLSSVLTVA WICCLVTAFY WCLRKRRKPG
1110 1120 1130 1140 1150
SHTHSASEDN TTNNVREQLN QIKNPIEKHG ANTVPIKDYE NKNSKMSKIR
1160 1170 1180 1190 1200
THNSEVEEDD MDKHQQKARF AKQPAYTLVD REEKPPNGTP TKHPNWTNKQ
1210
DNRDLESAQS LNRMEYIV
Length:1,218
Mass (Da):133,799
Last modified:May 2, 2002 - v3
Checksum:iF36EE9FBF64DF162
GO
Isoform 2 (identifier: P78504-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-159: Missing.

Note: No experimental confirmation available.

Show »
Length:1,059
Mass (Da):116,579
Checksum:i4282E9CF97A854D5
GO

Sequence cautioni

The sequence AAC51323.1 differs from that shown. Reason: Frameshift at position 1187.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti117 – 1171R → P in AAB39007. (PubMed:10079256)Curated
Sequence conflicti227 – 2271P → R in AAC51731. (PubMed:9268641)Curated
Sequence conflicti498 – 4981N → D in AAC51731. (PubMed:9268641)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 254Missing in ALGS1. 1 Publication
VAR_026296
Natural varianti31 – 311A → V in ALGS1. 1 Publication
VAR_026297
Natural varianti33 – 331G → D in ALGS1. 1 Publication
VAR_026298
Natural varianti33 – 331G → S in ALGS1. 1 Publication
VAR_026299
Natural varianti33 – 331G → V in ALGS1. 1 Publication
VAR_026300
Natural varianti37 – 371L → S in ALGS1. 2 Publications
VAR_013186
Natural varianti39 – 391I → S in ALGS1. 1 Publication
VAR_026301
Natural varianti40 – 401L → P in ALGS1. 1 Publication
VAR_026302
Natural varianti45 – 451V → L in biliary atresia; extrahepatic. 1 Publication
Corresponds to variant rs183974372 [ dbSNP | Ensembl ].
VAR_026303
Natural varianti53 – 531N → D in biliary atresia; extrahepatic. 1 Publication
VAR_026304
Natural varianti65 – 651K → M in biliary atresia; extrahepatic. 1 Publication
VAR_026305
Natural varianti75 – 751F → S in ALGS1. 1 Publication
VAR_026306
Natural varianti78 – 781C → S in ALGS1. 1 Publication
VAR_026307
Natural varianti79 – 791L → H in ALGS1. 1 Publication
VAR_013187
Natural varianti92 – 921C → R in ALGS1. 1 Publication
VAR_026308
Natural varianti92 – 921C → Y in ALGS1. 1 Publication
VAR_026309
Natural varianti120 – 1201I → N in ALGS1. 1 Publication
VAR_026310
Natural varianti123 – 1231P → S in ALGS1. 1 Publication
VAR_026311
Natural varianti127 – 1271A → T in ALGS1. 1 Publication
VAR_013188
Natural varianti129 – 1291P → R in ALGS1. 1 Publication
VAR_013189
Natural varianti146 – 1461V → I.
Corresponds to variant rs6040067 [ dbSNP | Ensembl ].
VAR_048985
Natural varianti152 – 1521I → T in ALGS1. 1 Publication
VAR_013190
Natural varianti155 – 1551A → P in ALGS1. 1 Publication
VAR_026312
Natural varianti163 – 1631P → L in ALGS1. 1 Publication
VAR_013191
Natural varianti163 – 1631P → R in ALGS1. 1 Publication
VAR_026313
Natural varianti181 – 1811Y → N in ALGS1. 1 Publication
VAR_026314
Natural varianti184 – 1841R → C in ALGS1. 2 Publications
VAR_013192
Natural varianti184 – 1841R → G in ALGS1. 1 Publication
VAR_013193
Natural varianti184 – 1841R → H in ALGS1. 2 Publications
VAR_013194
Natural varianti184 – 1841R → L in ALGS1. 1 Publication
VAR_013195
Natural varianti187 – 1871C → S in ALGS1. 1 Publication
VAR_013196
Natural varianti187 – 1871C → Y in ALGS1. 1 Publication
VAR_026315
Natural varianti203 – 2031R → K in biliary atresia; extrahepatic. 1 Publication
VAR_026316
Natural varianti220 – 2201C → F in ALGS1. 1 Publication
VAR_013197
Natural varianti224 – 2241W → C in ALGS1. 1 Publication
VAR_026317
Natural varianti229 – 2291C → G in ALGS1. 1 Publication
VAR_013198
Natural varianti229 – 2291C → Y in ALGS1. 1 Publication
VAR_013199
Natural varianti234 – 2341C → Y in deafness; with congenital heart defects and posterior embryotoxon. 1 Publication
VAR_026318
Natural varianti252 – 2521R → G in ALGS1. 1 Publication
VAR_026319
Natural varianti256 – 2561G → S in ALGS1. 1 Publication
VAR_026320
Natural varianti269 – 2691P → L in ALGS1. 1 Publication
VAR_026321
Natural varianti271 – 2711C → R in ALGS1. 1 Publication
VAR_026322
Natural varianti274 – 2741G → D in TOF; temperature sensitive mutation; the protein is abnormally glycosylated and retained intracellularly. 1 Publication
Corresponds to variant rs28939668 [ dbSNP | Ensembl ].
VAR_013200
Natural varianti284 – 2841C → F in ALGS1. 1 Publication
VAR_013201
Natural varianti288 – 2881W → C in ALGS1. 1 Publication
VAR_013202
Natural varianti386 – 3861G → R in ALGS1. 1 Publication
VAR_013203
Natural varianti436 – 4361C → W in ALGS1. 1 Publication
VAR_071513
Natural varianti438 – 4381C → F in ALGS1. 1 Publication
VAR_013204
Natural varianti504 – 5041N → S in ALGS1. 1 Publication
VAR_026323
Natural varianti690 – 6901Y → D in biliary atresia; extrahepatic. 1 Publication
VAR_026324
Natural varianti693 – 6931C → Y in ALGS1. 1 Publication
VAR_026325
Natural varianti714 – 7141C → Y in ALGS1. 1 Publication
VAR_026326
Natural varianti731 – 7311C → S in ALGS1. 1 Publication
VAR_013205
Natural varianti740 – 7401C → R in ALGS1. 1 Publication
VAR_013206
Natural varianti753 – 7531C → R in ALGS1. 1 Publication
VAR_013207
Natural varianti818 – 8181R → K.1 Publication
VAR_026327
Natural varianti871 – 8711P → R in biliary atresia; extrahepatic. 1 Publication
Corresponds to variant rs35761929 [ dbSNP | Ensembl ].
VAR_026328
Natural varianti889 – 8891R → Q in ALGS1. 1 Publication
VAR_026329
Natural varianti902 – 9021C → S in ALGS1. 1 Publication
VAR_026330
Natural varianti908 – 9081H → Q in biliary atresia; extrahepatic. 1 Publication
VAR_026331
Natural varianti911 – 9111C → Y in ALGS1. 1 Publication
VAR_026332
Natural varianti913 – 9131S → R in ALGS1. 1 Publication
VAR_026333
Natural varianti921 – 9211L → P in biliary atresia; extrahepatic. 1 Publication
VAR_026334
Natural varianti937 – 9371R → Q in ALGS1. 1 Publication
Corresponds to variant rs145895196 [ dbSNP | Ensembl ].
VAR_026335
Natural varianti1055 – 10562VR → G in ALGS1.
VAR_026336
Natural varianti1213 – 12131R → Q in biliary atresia; extrahepatic. 1 Publication
VAR_026337

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 159159Missing in isoform 2. 1 PublicationVSP_056532Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF003837 mRNA. Translation: AAC51731.1.
U73936 mRNA. Translation: AAC52020.1.
AF028593 mRNA. Translation: AAB84053.1.
U61276 mRNA. Translation: AAB39007.1.
AK302554 mRNA. Translation: BAG63823.1.
AL035456 Genomic DNA. Translation: CAC07198.1.
BC126205 mRNA. Translation: AAI26206.1.
BC126207 mRNA. Translation: AAI26208.1.
U77720 mRNA. Translation: AAC51323.1. Frameshift.
CCDSiCCDS13112.1. [P78504-1]
RefSeqiNP_000205.1. NM_000214.2.
UniGeneiHs.224012.
Hs.626544.

Genome annotation databases

EnsembliENST00000254958; ENSP00000254958; ENSG00000101384. [P78504-1]
GeneIDi182.
KEGGihsa:182.
UCSCiuc002wnw.2. human. [P78504-1]

Polymorphism databases

DMDMi20455033.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF003837 mRNA. Translation: AAC51731.1 .
U73936 mRNA. Translation: AAC52020.1 .
AF028593 mRNA. Translation: AAB84053.1 .
U61276 mRNA. Translation: AAB39007.1 .
AK302554 mRNA. Translation: BAG63823.1 .
AL035456 Genomic DNA. Translation: CAC07198.1 .
BC126205 mRNA. Translation: AAI26206.1 .
BC126207 mRNA. Translation: AAI26208.1 .
U77720 mRNA. Translation: AAC51323.1 . Frameshift.
CCDSi CCDS13112.1. [P78504-1 ]
RefSeqi NP_000205.1. NM_000214.2.
UniGenei Hs.224012.
Hs.626544.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2KB9 NMR - A 252-295 [» ]
2VJ2 X-ray 2.50 A/B 185-335 [» ]
4CBZ X-ray 2.50 A/B 32-335 [» ]
4CC0 X-ray 2.32 A/B 32-335 [» ]
4CC1 X-ray 2.84 A/B 32-335 [» ]
DisProti DP00418.
ProteinModelPortali P78504.
SMRi P78504. Positions 32-865.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106689. 9 interactions.
DIPi DIP-46371N.
IntActi P78504. 8 interactions.
MINTi MINT-2804836.
STRINGi 9606.ENSP00000254958.

PTM databases

PhosphoSitei P78504.

Polymorphism databases

DMDMi 20455033.

Proteomic databases

MaxQBi P78504.
PaxDbi P78504.
PeptideAtlasi P78504.
PRIDEi P78504.

Protocols and materials databases

DNASUi 182.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000254958 ; ENSP00000254958 ; ENSG00000101384 . [P78504-1 ]
GeneIDi 182.
KEGGi hsa:182.
UCSCi uc002wnw.2. human. [P78504-1 ]

Organism-specific databases

CTDi 182.
GeneCardsi GC20M010618.
GeneReviewsi JAG1.
HGNCi HGNC:6188. JAG1.
HPAi CAB010343.
HPA021555.
MIMi 118450. phenotype.
187500. phenotype.
601920. gene+phenotype.
neXtProti NX_P78504.
Orphaneti 261600. Alagille syndrome due to 20p12 microdeletion.
261619. Alagille syndrome due to a JAG1 point mutation.
3303. Tetralogy of Fallot.
PharmGKBi PA29986.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG12793.
GeneTreei ENSGT00760000118786.
HOGENOMi HOG000113124.
HOVERGENi HBG031645.
InParanoidi P78504.
KOi K06052.
OMAi HPNWTNK.
OrthoDBi EOG7BKCSS.
PhylomeDBi P78504.
TreeFami TF351835.

Enzyme and pathway databases

Reactomei REACT_118614. Activated NOTCH1 Transmits Signal to the Nucleus.
REACT_118636. Signaling by NOTCH4.
REACT_118862. Signaling by NOTCH3.
REACT_160089. Constitutive Signaling by NOTCH1 HD Domain Mutants.
REACT_160106. Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant.
REACT_160205. NOTCH2 Activation and Transmission of Signal to the Nucleus.
REACT_160243. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
REACT_160254. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
SignaLinki P78504.

Miscellaneous databases

ChiTaRSi JAG1. human.
EvolutionaryTracei P78504.
GeneWikii JAG1.
GenomeRNAii 182.
NextBioi 35476290.
PROi P78504.
SOURCEi Search...

Gene expression databases

Bgeei P78504.
CleanExi HS_JAG1.
ExpressionAtlasi P78504. baseline and differential.
Genevestigatori P78504.

Family and domain databases

InterProi IPR001774. DSL.
IPR000742. EG-like_dom.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_N_dom.
IPR026219. Jagged/Serrate.
IPR011651. Notch_ligand_N.
IPR001007. VWF_C.
[Graphical view ]
Pfami PF01414. DSL. 1 hit.
PF00008. EGF. 10 hits.
PF07645. EGF_CA. 1 hit.
PF07657. MNNL. 1 hit.
[Graphical view ]
PRINTSi PR02059. JAGGEDFAMILY.
SMARTi SM00051. DSL. 1 hit.
SM00181. EGF. 6 hits.
SM00179. EGF_CA. 10 hits.
SM00214. VWC. 1 hit.
[Graphical view ]
SUPFAMi SSF57184. SSF57184. 3 hits.
PROSITEi 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 ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN ALGS1, 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Cervix carcinoma.
  5. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  7. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  9. "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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 14-1218 (ISOFORM 1).
    Tissue: Umbilical vein endothelial cell.
  10. Cited for: DISEASE.
  11. "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] [Europe PMC] [Abstract]
    Cited for: DEVELOPMENTAL STAGE.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "A conserved face of the Jagged/Serrate DSL domain is involved in Notch 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) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.5 ANGSTROMS) OF 185-335, FUNCTION, INTERACTION WITH NOTCH1, DOMAIN, MUTAGENESIS OF PHE-207, DISULFIDE BONDS.
  14. "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) [PubMed] [Europe PMC] [Abstract]
    Cited for: STRUCTURE BY NMR OF 252-295, DOMAIN, DISULFIDE BONDS.
  15. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALGS1 CYS-184 AND HIS-184.
  16. 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.
  17. Cited for: VARIANTS ALGS1 THR-152 AND LEU-184.
  18. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALGS1 TYR-229 AND ARG-386.
  19. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT TOF ASP-274.
  20. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT ALGS1 SER-37.
  21. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALGS1 PHE-220 AND ARG-753.
  22. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALGS1 ASP-33; SER-37; SER-78; ASN-181; TYR-714 AND SER-902.
  23. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT DEAFNESS TYR-234.
  24. "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] [Europe PMC] [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.
  25. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALGS1 SER-39; HIS-184 AND ARG-913.
  26. "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] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT ASP-274.
  27. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALGS1 VAL-31; PRO-40; SER-75; SER-123; ARG-163; CYS-224; LEU-269 AND GLN-937.
  28. "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] [Europe PMC] [Abstract]
    Cited for: VARIANTS ALGS1 ASN-120 AND TYR-187.
  29. "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] [Europe PMC] [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.
  30. "Alagille Syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA."
    Vozzi D., Licastro D., Martelossi S., Athanasakis E., Gasparini P., Fabretto A.
    Mol. Syndromol. 4:207-210(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ALGS1 TRP-436.

Entry informationi

Entry nameiJAG1_HUMAN
AccessioniPrimary (citable) accession number: P78504
Secondary accession number(s): A0AV43
, B4DYR1, E9PCF9, O14902, O15122, Q15816
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 2, 2002
Last modified: October 29, 2014
This is version 160 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3