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P78504

- JAG1_HUMAN

UniProt

P78504 - JAG1_HUMAN

Protein

Protein jagged-1

Gene

JAG1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 159 (01 Oct 2014)
      Sequence version 3 (02 May 2002)
      Previous versions | rss
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    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. protein binding Source: IntAct
    5. 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. cardiac neural crest cell development involved in outflow tract morphogenesis Source: BHF-UCL
    5. cardiac right ventricle morphogenesis Source: BHF-UCL
    6. cardiac septum morphogenesis Source: BHF-UCL
    7. cell fate determination Source: UniProtKB
    8. distal tubule development Source: Ensembl
    9. endocardial cushion cell development Source: BHF-UCL
    10. endothelial cell differentiation Source: UniProtKB
    11. hemopoiesis Source: UniProtKB
    12. keratinocyte differentiation Source: UniProtKB
    13. loop of Henle development Source: Ensembl
    14. morphogenesis of an epithelial sheet Source: Ensembl
    15. myoblast differentiation Source: UniProtKB
    16. negative regulation of fat cell differentiation Source: Ensembl
    17. negative regulation of neuron differentiation Source: Ensembl
    18. negative regulation of stem cell differentiation Source: UniProtKB
    19. nervous system development Source: UniProtKB
    20. neuronal stem cell maintenance Source: UniProtKB
    21. Notch receptor processing Source: Reactome
    22. Notch signaling involved in heart development Source: BHF-UCL
    23. Notch signaling pathway Source: UniProtKB
    24. positive regulation of myeloid cell differentiation Source: Ensembl
    25. positive regulation of Notch signaling pathway Source: Ensembl
    26. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    27. pulmonary artery morphogenesis Source: BHF-UCL
    28. pulmonary valve morphogenesis Source: BHF-UCL
    29. regulation of cell migration Source: UniProtKB
    30. regulation of cell proliferation Source: UniProtKB
    31. response to muramyl dipeptide Source: Ensembl
    32. T cell mediated immunity Source: UniProt

    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

    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.12 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.
    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 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

    ArrayExpressiP78504.
    BgeeiP78504.
    CleanExiHS_JAG1.
    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 32-858.
    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.
    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

    MRSPRTRGRS GRPLSLLLAL LCALRAKVCG ASGQFELEIL SMQNVNGELQ     50
    NGNCCGGARN PGDRKCTRDE CDTYFKVCLK EYQSRVTAGG PCSFGSGSTP 100
    VIGGNTFNLK ASRGNDRNRI VLPFSFAWPR SYTLLVEAWD SSNDTVQPDS 150
    IIEKASHSGM INPSRQWQTL KQNTGVAHFE YQIRVTCDDY YYGFGCNKFC 200
    RPRDDFFGHY ACDQNGNKTC MEGWMGPECN RAICRQGCSP KHGSCKLPGD 250
    CRCQYGWQGL YCDKCIPHPG CVHGICNEPW QCLCETNWGG QLCDKDLNYC 300
    GTHQPCLNGG TCSNTGPDKY QCSCPEGYSG PNCEIAEHAC LSDPCHNRGS 350
    CKETSLGFEC ECSPGWTGPT CSTNIDDCSP NNCSHGGTCQ DLVNGFKCVC 400
    PPQWTGKTCQ LDANECEAKP CVNAKSCKNL IASYYCDCLP GWMGQNCDIN 450
    INDCLGQCQN DASCRDLVNG YRCICPPGYA GDHCERDIDE CASNPCLNGG 500
    HCQNEINRFQ CLCPTGFSGN LCQLDIDYCE PNPCQNGAQC YNRASDYFCK 550
    CPEDYEGKNC SHLKDHCRTT PCEVIDSCTV AMASNDTPEG VRYISSNVCG 600
    PHGKCKSQSG GKFTCDCNKG FTGTYCHENI NDCESNPCRN GGTCIDGVNS 650
    YKCICSDGWE GAYCETNIND CSQNPCHNGG TCRDLVNDFY CDCKNGWKGK 700
    TCHSRDSQCD EATCNNGGTC YDEGDAFKCM CPGGWEGTTC NIARNSSCLP 750
    NPCHNGGTCV VNGESFTCVC KEGWEGPICA QNTNDCSPHP CYNSGTCVDG 800
    DNWYRCECAP GFAGPDCRIN INECQSSPCA FGATCVDEIN GYRCVCPPGH 850
    SGAKCQEVSG RPCITMGSVI PDGAKWDDDC NTCQCLNGRI ACSKVWCGPR 900
    PCLLHKGHSE CPSGQSCIPI LDDQCFVHPC TGVGECRSSS LQPVKTKCTS 950
    DSYYQDNCAN ITFTFNKEMM SPGLTTEHIC SELRNLNILK NVSAEYSIYI 1000
    ACEPSPSANN EIHVAISAED IRDDGNPIKE ITDKIIDLVS KRDGNSSLIA 1050
    AVAEVRVQRR PLKNRTDFLV PLLSSVLTVA WICCLVTAFY WCLRKRRKPG 1100
    SHTHSASEDN TTNNVREQLN QIKNPIEKHG ANTVPIKDYE NKNSKMSKIR 1150
    THNSEVEEDD MDKHQQKARF AKQPAYTLVD REEKPPNGTP TKHPNWTNKQ 1200
    DNRDLESAQS LNRMEYIV 1218
    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.
    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 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.
    RefSeqiNP_000205.1. NM_000214.2.
    UniGeneiHs.224012.
    Hs.626544.

    Genome annotation databases

    EnsembliENST00000254958; ENSP00000254958; ENSG00000101384.
    ENST00000423891; ENSP00000389519; ENSG00000101384.
    GeneIDi182.
    KEGGihsa:182.
    UCSCiuc002wnw.2. human.

    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.
    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 32-858.
    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 .
    ENST00000423891 ; ENSP00000389519 ; ENSG00000101384 .
    GeneIDi 182.
    KEGGi hsa:182.
    UCSCi uc002wnw.2. human.

    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.
    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 744.
    PROi P78504.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P78504.
    Bgeei P78504.
    CleanExi HS_JAG1.
    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

    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), 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.

    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 1, 2014
    This is version 159 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

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      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

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