Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein jagged-1

Gene

JAG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

  • calcium ion binding Source: InterPro
  • growth factor activity Source: UniProtKB
  • Notch binding Source: UniProtKB
  • structural molecule activity Source: UniProtKB

GO - Biological processi

  • angiogenesis Source: UniProtKB
  • aorta morphogenesis Source: BHF-UCL
  • auditory receptor cell differentiation Source: Ensembl
  • blood vessel remodeling Source: Ensembl
  • cardiac neural crest cell development involved in outflow tract morphogenesis Source: BHF-UCL
  • cardiac right ventricle morphogenesis Source: BHF-UCL
  • cardiac septum morphogenesis Source: BHF-UCL
  • cell fate determination Source: UniProtKB
  • ciliary body morphogenesis Source: Ensembl
  • distal tubule development Source: Ensembl
  • endocardial cushion cell development Source: BHF-UCL
  • endothelial cell differentiation Source: UniProtKB
  • glomerular visceral epithelial cell development Source: UniProtKB
  • hemopoiesis Source: UniProtKB
  • keratinocyte differentiation Source: UniProtKB
  • loop of Henle development Source: Ensembl
  • morphogenesis of an epithelial sheet Source: Ensembl
  • myoblast differentiation Source: UniProtKB
  • negative regulation of fat cell differentiation Source: Ensembl
  • negative regulation of neuron differentiation Source: Ensembl
  • negative regulation of stem cell differentiation Source: UniProtKB
  • nephron development Source: UniProtKB
  • nervous system development Source: UniProtKB
  • neuronal stem cell population maintenance Source: UniProtKB
  • Notch receptor processing Source: Reactome
  • Notch signaling involved in heart development Source: BHF-UCL
  • Notch signaling pathway Source: UniProtKB
  • positive regulation of myeloid cell differentiation Source: Ensembl
  • positive regulation of Notch signaling pathway Source: UniProtKB
  • positive regulation of osteoblast differentiation Source: Ensembl
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • pulmonary artery morphogenesis Source: BHF-UCL
  • pulmonary valve morphogenesis Source: BHF-UCL
  • regulation of cell migration Source: UniProtKB
  • regulation of cell proliferation Source: UniProtKB
  • response to muramyl dipeptide Source: Ensembl
  • T cell mediated immunity Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Notch signaling pathway

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101384-MONOMER.
ReactomeiR-HSA-1980148. Signaling by NOTCH3.
R-HSA-1980150. Signaling by NOTCH4.
R-HSA-2122948. Activated NOTCH1 Transmits Signal to the Nucleus.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2660826. Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant.
R-HSA-2691232. Constitutive Signaling by NOTCH1 HD Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-2979096. NOTCH2 Activation and Transmission of Signal to the Nucleus.
SignaLinkiP78504.
SIGNORiP78504.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:6188. JAG1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini34 – 1067ExtracellularSequence analysisAdd BLAST1034
Transmembranei1068 – 1093HelicalSequence analysisAdd BLAST26
Topological domaini1094 – 1218CytoplasmicSequence analysisAdd BLAST125

GO - Cellular componenti

  • adherens junction Source: UniProtKB
  • apical plasma membrane Source: UniProtKB
  • extracellular region Source: UniProtKB
  • integral component of plasma membrane Source: UniProtKB
  • membrane Source: UniProtKB
  • plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Alagille syndrome 1 (ALGS1)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:118450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02629622 – 25Missing in ALGS1. 1 Publication4
Natural variantiVAR_02629731A → V in ALGS1. 1 Publication1
Natural variantiVAR_02629833G → D in ALGS1. 1 Publication1
Natural variantiVAR_02629933G → S in ALGS1. 1 Publication1
Natural variantiVAR_02630033G → V in ALGS1. 1 Publication1
Natural variantiVAR_01318637L → S in ALGS1. 2 PublicationsCorresponds to variant rs121918352dbSNPEnsembl.1
Natural variantiVAR_02630139I → S in ALGS1. 1 Publication1
Natural variantiVAR_02630240L → P in ALGS1. 1 Publication1
Natural variantiVAR_02630675F → S in ALGS1. 1 Publication1
Natural variantiVAR_02630778C → S in ALGS1. 1 Publication1
Natural variantiVAR_01318779L → H in ALGS1. 1 Publication1
Natural variantiVAR_02630892C → R in ALGS1. 1 Publication1
Natural variantiVAR_02630992C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026310120I → N in ALGS1. 1 Publication1
Natural variantiVAR_026311123P → S in ALGS1. 1 Publication1
Natural variantiVAR_013188127A → T in ALGS1. 1 Publication1
Natural variantiVAR_013189129P → R in ALGS1. 1 Publication1
Natural variantiVAR_013190152I → T in ALGS1. 1 Publication1
Natural variantiVAR_026312155A → P in ALGS1. 1 Publication1
Natural variantiVAR_013191163P → L in ALGS1. 1 Publication1
Natural variantiVAR_026313163P → R in ALGS1. 1 Publication1
Natural variantiVAR_026314181Y → N in ALGS1. 1 Publication1
Natural variantiVAR_013192184R → C in ALGS1. 2 PublicationsCorresponds to variant rs121918350dbSNPEnsembl.1
Natural variantiVAR_013193184R → G in ALGS1. 1 Publication1
Natural variantiVAR_013194184R → H in ALGS1. 2 PublicationsCorresponds to variant rs121918351dbSNPEnsembl.1
Natural variantiVAR_013195184R → L in ALGS1. 1 Publication1
Natural variantiVAR_013196187C → S in ALGS1. 1 Publication1
Natural variantiVAR_026315187C → Y in ALGS1. 1 Publication1
Natural variantiVAR_013197220C → F in ALGS1. 1 Publication1
Natural variantiVAR_026317224W → C in ALGS1. 1 Publication1
Natural variantiVAR_013198229C → G in ALGS1. 1 Publication1
Natural variantiVAR_013199229C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026319252R → G in ALGS1. 1 Publication1
Natural variantiVAR_026320256G → S in ALGS1. 1 Publication1
Natural variantiVAR_026321269P → L in ALGS1. 1 Publication1
Natural variantiVAR_026322271C → R in ALGS1. 1 Publication1
Natural variantiVAR_013201284C → F in ALGS1. 1 Publication1
Natural variantiVAR_013202288W → C in ALGS1. 1 Publication1
Natural variantiVAR_013203386G → R in ALGS1. 1 Publication1
Natural variantiVAR_071513436C → W in ALGS1. 1 Publication1
Natural variantiVAR_013204438C → F in ALGS1. 1 Publication1
Natural variantiVAR_026323504N → S in ALGS1. 1 PublicationCorresponds to variant rs527236046dbSNPEnsembl.1
Natural variantiVAR_026325693C → Y in ALGS1. 1 PublicationCorresponds to variant rs566563238dbSNPEnsembl.1
Natural variantiVAR_026326714C → Y in ALGS1. 1 Publication1
Natural variantiVAR_013205731C → S in ALGS1. 1 Publication1
Natural variantiVAR_013206740C → R in ALGS1. 1 Publication1
Natural variantiVAR_013207753C → R in ALGS1. 1 Publication1
Natural variantiVAR_026329889R → Q in ALGS1. 1 PublicationCorresponds to variant rs149419694dbSNPEnsembl.1
Natural variantiVAR_026330902C → S in ALGS1. 1 Publication1
Natural variantiVAR_026332911C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026333913S → R in ALGS1. 1 Publication1
Natural variantiVAR_026335937R → Q in ALGS1. 1 PublicationCorresponds to variant rs145895196dbSNPEnsembl.1
Natural variantiVAR_0263361055 – 1056VR → G in ALGS1. 2
Tetralogy of Fallot (TOF)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:187500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013200274G → D in TOF; temperature sensitive mutation; the protein is abnormally glycosylated and retained intracellularly. 2 PublicationsCorresponds to variant rs28939668dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi207F → A: Strongly reduced NOTCH1 binding. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi182.
MalaCardsiJAG1.
MIMi118450. phenotype.
187500. phenotype.
601920. gene+phenotype.
OpenTargetsiENSG00000101384.
Orphaneti261600. Alagille syndrome due to 20p12 microdeletion.
261619. Alagille syndrome due to a JAG1 point mutation.
3303. Tetralogy of Fallot.
PharmGKBiPA29986.

Chemistry databases

ChEMBLiCHEMBL3217396.

Polymorphism and mutation databases

BioMutaiJAG1.
DMDMi20455033.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 33Sequence analysisAdd BLAST33
ChainiPRO_000000762534 – 1218Protein jagged-1Add BLAST1185

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi143N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi187 ↔ 196
Disulfide bondi200 ↔ 212
Glycosylationi217N-linked (GlcNAc...)Sequence analysis1
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
Glycosylationi382N-linked (GlcNAc...)Sequence analysis1
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
Glycosylationi559N-linked (GlcNAc...)Sequence analysis1
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
Glycosylationi745N-linked (GlcNAc...)Sequence analysis1
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
Glycosylationi960N-linked (GlcNAc...)Sequence analysis1
Glycosylationi991N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1045N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1064N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP78504.
MaxQBiP78504.
PaxDbiP78504.
PeptideAtlasiP78504.
PRIDEiP78504.

PTM databases

iPTMnetiP78504.
PhosphoSitePlusiP78504.
SwissPalmiP78504.

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

BgeeiENSG00000101384.
CleanExiHS_JAG1.
ExpressionAtlasiP78504. baseline and differential.
GenevisibleiP78504. HS.

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

GO - Molecular functioni

  • growth factor activity Source: UniProtKB
  • Notch binding Source: UniProtKB

Protein-protein interaction databases

BioGridi106689. 9 interactors.
DIPiDIP-46371N.
IntActiP78504. 10 interactors.
MINTiMINT-2804836.
STRINGi9606.ENSP00000254958.

Structurei

Secondary structure

11218
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi33 – 43Combined sources11
Beta strandi52 – 57Combined sources6
Turni61 – 63Combined sources3
Beta strandi73 – 81Combined sources9
Beta strandi88 – 90Combined sources3
Beta strandi95 – 98Combined sources4
Beta strandi103 – 105Combined sources3
Beta strandi118 – 124Combined sources7
Beta strandi130 – 140Combined sources11
Beta strandi143 – 147Combined sources5
Beta strandi150 – 160Combined sources11
Beta strandi163 – 172Combined sources10
Beta strandi174 – 187Combined sources14
Turni193 – 196Combined sources4
Beta strandi203 – 205Combined sources3
Beta strandi208 – 212Combined sources5
Beta strandi218 – 220Combined sources3
Turni226 – 229Combined sources4
Turni240 – 242Combined sources3
Beta strandi257 – 259Combined sources3
Turni268 – 270Combined sources3
Beta strandi273 – 275Combined sources3
Beta strandi277 – 280Combined sources4
Beta strandi286 – 289Combined sources4
Turni290 – 293Combined sources4
Beta strandi295 – 297Combined sources3
Helixi299 – 303Combined sources5
Beta strandi311 – 316Combined sources6
Beta strandi319 – 323Combined sources5
Beta strandi328 – 330Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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[»]
4XI7X-ray2.05C1120-1130[»]
5BO1X-ray2.56A/B186-335[»]
DisProtiDP00418.
ProteinModelPortaliP78504.
SMRiP78504.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP78504.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini185 – 229DSLPROSITE-ProRule annotationAdd BLAST45
Domaini230 – 263EGF-like 1PROSITE-ProRule annotationAdd BLAST34
Domaini264 – 294EGF-like 2; atypicalPROSITE-ProRule annotationAdd BLAST31
Domaini296 – 334EGF-like 3PROSITE-ProRule annotationAdd BLAST39
Domaini336 – 372EGF-like 4PROSITE-ProRule annotationAdd BLAST37
Domaini374 – 410EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini412 – 448EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini450 – 485EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini487 – 523EGF-like 8; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini525 – 561EGF-like 9PROSITE-ProRule annotationAdd BLAST37
Domaini586 – 627EGF-like 10PROSITE-ProRule annotationAdd BLAST42
Domaini629 – 665EGF-like 11; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini667 – 703EGF-like 12; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini705 – 741EGF-like 13PROSITE-ProRule annotationAdd BLAST37
Domaini744 – 780EGF-like 14PROSITE-ProRule annotationAdd BLAST37
Domaini782 – 818EGF-like 15; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini820 – 856EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd BLAST37

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni199 – 207Important for interaction with NOTCH11 Publication9

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

eggNOGiKOG1217. Eukaryota.
ENOG410XP6K. LUCA.
GeneTreeiENSGT00810000125346.
HOGENOMiHOG000113124.
HOVERGENiHBG031645.
InParanoidiP78504.
KOiK06052.
OMAiMPGAPDK.
OrthoDBiEOG091G0A88.
PhylomeDBiP78504.
TreeFamiTF351835.

Family and domain databases

InterProiIPR001774. DSL.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
IPR026219. Jagged/Serrate.
IPR011651. Notch_ligand_N.
IPR001007. VWF_dom.
[Graphical view]
PfamiPF01414. DSL. 1 hit.
PF00008. EGF. 10 hits.
PF07645. EGF_CA. 1 hit.
PF12661. hEGF. 1 hit.
PF07657. MNNL. 1 hit.
[Graphical view]
PRINTSiPR02059. JAGGEDFAMILY.
SMARTiSM00051. DSL. 1 hit.
SM00181. EGF. 16 hits.
SM00179. EGF_CA. 14 hits.
SM00214. VWC. 1 hit.
SM00215. VWC_out. 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. AlignAdd to basket

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 differs from that shown. Reason: Frameshift at position 1187.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti117R → P in AAB39007 (PubMed:10079256).Curated1
Sequence conflicti227P → R in AAC51731 (PubMed:9268641).Curated1
Sequence conflicti498N → D in AAC51731 (PubMed:9268641).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02629622 – 25Missing in ALGS1. 1 Publication4
Natural variantiVAR_02629731A → V in ALGS1. 1 Publication1
Natural variantiVAR_02629833G → D in ALGS1. 1 Publication1
Natural variantiVAR_02629933G → S in ALGS1. 1 Publication1
Natural variantiVAR_02630033G → V in ALGS1. 1 Publication1
Natural variantiVAR_01318637L → S in ALGS1. 2 PublicationsCorresponds to variant rs121918352dbSNPEnsembl.1
Natural variantiVAR_02630139I → S in ALGS1. 1 Publication1
Natural variantiVAR_02630240L → P in ALGS1. 1 Publication1
Natural variantiVAR_02630345V → L in biliary atresia; extrahepatic. 1 PublicationCorresponds to variant rs183974372dbSNPEnsembl.1
Natural variantiVAR_02630453N → D in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_02630565K → M in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_02630675F → S in ALGS1. 1 Publication1
Natural variantiVAR_02630778C → S in ALGS1. 1 Publication1
Natural variantiVAR_01318779L → H in ALGS1. 1 Publication1
Natural variantiVAR_02630892C → R in ALGS1. 1 Publication1
Natural variantiVAR_02630992C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026310120I → N in ALGS1. 1 Publication1
Natural variantiVAR_026311123P → S in ALGS1. 1 Publication1
Natural variantiVAR_013188127A → T in ALGS1. 1 Publication1
Natural variantiVAR_013189129P → R in ALGS1. 1 Publication1
Natural variantiVAR_048985146V → I.Corresponds to variant rs6040067dbSNPEnsembl.1
Natural variantiVAR_013190152I → T in ALGS1. 1 Publication1
Natural variantiVAR_026312155A → P in ALGS1. 1 Publication1
Natural variantiVAR_013191163P → L in ALGS1. 1 Publication1
Natural variantiVAR_026313163P → R in ALGS1. 1 Publication1
Natural variantiVAR_026314181Y → N in ALGS1. 1 Publication1
Natural variantiVAR_013192184R → C in ALGS1. 2 PublicationsCorresponds to variant rs121918350dbSNPEnsembl.1
Natural variantiVAR_013193184R → G in ALGS1. 1 Publication1
Natural variantiVAR_013194184R → H in ALGS1. 2 PublicationsCorresponds to variant rs121918351dbSNPEnsembl.1
Natural variantiVAR_013195184R → L in ALGS1. 1 Publication1
Natural variantiVAR_013196187C → S in ALGS1. 1 Publication1
Natural variantiVAR_026315187C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026316203R → K in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_013197220C → F in ALGS1. 1 Publication1
Natural variantiVAR_026317224W → C in ALGS1. 1 Publication1
Natural variantiVAR_013198229C → G in ALGS1. 1 Publication1
Natural variantiVAR_013199229C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026318234C → Y in deafness; with congenital heart defects and posterior embryotoxon. 1 PublicationCorresponds to variant rs121918353dbSNPEnsembl.1
Natural variantiVAR_026319252R → G in ALGS1. 1 Publication1
Natural variantiVAR_026320256G → S in ALGS1. 1 Publication1
Natural variantiVAR_026321269P → L in ALGS1. 1 Publication1
Natural variantiVAR_026322271C → R in ALGS1. 1 Publication1
Natural variantiVAR_013200274G → D in TOF; temperature sensitive mutation; the protein is abnormally glycosylated and retained intracellularly. 2 PublicationsCorresponds to variant rs28939668dbSNPEnsembl.1
Natural variantiVAR_013201284C → F in ALGS1. 1 Publication1
Natural variantiVAR_013202288W → C in ALGS1. 1 Publication1
Natural variantiVAR_013203386G → R in ALGS1. 1 Publication1
Natural variantiVAR_071513436C → W in ALGS1. 1 Publication1
Natural variantiVAR_013204438C → F in ALGS1. 1 Publication1
Natural variantiVAR_026323504N → S in ALGS1. 1 PublicationCorresponds to variant rs527236046dbSNPEnsembl.1
Natural variantiVAR_026324690Y → D in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_026325693C → Y in ALGS1. 1 PublicationCorresponds to variant rs566563238dbSNPEnsembl.1
Natural variantiVAR_026326714C → Y in ALGS1. 1 Publication1
Natural variantiVAR_013205731C → S in ALGS1. 1 Publication1
Natural variantiVAR_013206740C → R in ALGS1. 1 Publication1
Natural variantiVAR_013207753C → R in ALGS1. 1 Publication1
Natural variantiVAR_026327818R → K.1 Publication1
Natural variantiVAR_026328871P → R in biliary atresia; extrahepatic. 1 PublicationCorresponds to variant rs35761929dbSNPEnsembl.1
Natural variantiVAR_026329889R → Q in ALGS1. 1 PublicationCorresponds to variant rs149419694dbSNPEnsembl.1
Natural variantiVAR_026330902C → S in ALGS1. 1 Publication1
Natural variantiVAR_026331908H → Q in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_026332911C → Y in ALGS1. 1 Publication1
Natural variantiVAR_026333913S → R in ALGS1. 1 Publication1
Natural variantiVAR_026334921L → P in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_026335937R → Q in ALGS1. 1 PublicationCorresponds to variant rs145895196dbSNPEnsembl.1
Natural variantiVAR_0263361055 – 1056VR → G in ALGS1. 2
Natural variantiVAR_0263371213R → Q in biliary atresia; extrahepatic. 1 PublicationCorresponds to variant rs138007561dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0565321 – 159Missing in isoform 2. 1 PublicationAdd BLAST159

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [P78504-1]
XP_016883196.1. XM_017027707.1. [P78504-2]
UniGeneiHs.224012.
Hs.626544.

Genome annotation databases

EnsembliENST00000254958; ENSP00000254958; ENSG00000101384. [P78504-1]
GeneIDi182.
KEGGihsa:182.
UCSCiuc002wnw.3. human. [P78504-1]

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:
EMBLi
GenBanki
DDBJi
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. [P78504-1]
XP_016883196.1. XM_017027707.1. [P78504-2]
UniGeneiHs.224012.
Hs.626544.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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[»]
4XI7X-ray2.05C1120-1130[»]
5BO1X-ray2.56A/B186-335[»]
DisProtiDP00418.
ProteinModelPortaliP78504.
SMRiP78504.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106689. 9 interactors.
DIPiDIP-46371N.
IntActiP78504. 10 interactors.
MINTiMINT-2804836.
STRINGi9606.ENSP00000254958.

Chemistry databases

ChEMBLiCHEMBL3217396.

PTM databases

iPTMnetiP78504.
PhosphoSitePlusiP78504.
SwissPalmiP78504.

Polymorphism and mutation databases

BioMutaiJAG1.
DMDMi20455033.

Proteomic databases

EPDiP78504.
MaxQBiP78504.
PaxDbiP78504.
PeptideAtlasiP78504.
PRIDEiP78504.

Protocols and materials databases

DNASUi182.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000254958; ENSP00000254958; ENSG00000101384. [P78504-1]
GeneIDi182.
KEGGihsa:182.
UCSCiuc002wnw.3. human. [P78504-1]

Organism-specific databases

CTDi182.
DisGeNETi182.
GeneCardsiJAG1.
GeneReviewsiJAG1.
HGNCiHGNC:6188. JAG1.
HPAiCAB010343.
HPA021555.
MalaCardsiJAG1.
MIMi118450. phenotype.
187500. phenotype.
601920. gene+phenotype.
neXtProtiNX_P78504.
OpenTargetsiENSG00000101384.
Orphaneti261600. Alagille syndrome due to 20p12 microdeletion.
261619. Alagille syndrome due to a JAG1 point mutation.
3303. Tetralogy of Fallot.
PharmGKBiPA29986.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1217. Eukaryota.
ENOG410XP6K. LUCA.
GeneTreeiENSGT00810000125346.
HOGENOMiHOG000113124.
HOVERGENiHBG031645.
InParanoidiP78504.
KOiK06052.
OMAiMPGAPDK.
OrthoDBiEOG091G0A88.
PhylomeDBiP78504.
TreeFamiTF351835.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101384-MONOMER.
ReactomeiR-HSA-1980148. Signaling by NOTCH3.
R-HSA-1980150. Signaling by NOTCH4.
R-HSA-2122948. Activated NOTCH1 Transmits Signal to the Nucleus.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2660826. Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant.
R-HSA-2691232. Constitutive Signaling by NOTCH1 HD Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-2979096. NOTCH2 Activation and Transmission of Signal to the Nucleus.
SignaLinkiP78504.
SIGNORiP78504.

Miscellaneous databases

ChiTaRSiJAG1. human.
EvolutionaryTraceiP78504.
GeneWikiiJAG1.
GenomeRNAii182.
PROiP78504.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101384.
CleanExiHS_JAG1.
ExpressionAtlasiP78504. baseline and differential.
GenevisibleiP78504. HS.

Family and domain databases

InterProiIPR001774. DSL.
IPR001881. EGF-like_Ca-bd_dom.
IPR013032. EGF-like_CS.
IPR000742. EGF-like_dom.
IPR000152. EGF-type_Asp/Asn_hydroxyl_site.
IPR018097. EGF_Ca-bd_CS.
IPR009030. Growth_fac_rcpt_.
IPR026219. Jagged/Serrate.
IPR011651. Notch_ligand_N.
IPR001007. VWF_dom.
[Graphical view]
PfamiPF01414. DSL. 1 hit.
PF00008. EGF. 10 hits.
PF07645. EGF_CA. 1 hit.
PF12661. hEGF. 1 hit.
PF07657. MNNL. 1 hit.
[Graphical view]
PRINTSiPR02059. JAGGEDFAMILY.
SMARTiSM00051. DSL. 1 hit.
SM00181. EGF. 16 hits.
SM00179. EGF_CA. 14 hits.
SM00214. VWC. 1 hit.
SM00215. VWC_out. 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]
ProtoNetiSearch...

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: November 2, 2016
This is version 181 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.