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Protein

Protein jagged-1

Gene

JAG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • phospholipid binding Source: CAFA
  • structural molecule activity Source: UniProtKB

GO - Biological processi

  • angiogenesis Source: UniProtKB
  • aorta morphogenesis Source: BHF-UCL
  • aortic valve morphogenesis Source: BHF-UCL
  • blood vessel remodeling Source: Ensembl
  • cardiac epithelial to mesenchymal transition Source: BHF-UCL
  • 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
  • inner ear auditory receptor cell differentiation Source: Ensembl
  • keratinocyte differentiation Source: UniProtKB
  • loop of Henle development Source: Ensembl
  • morphogenesis of an epithelial sheet Source: Ensembl
  • myoblast differentiation Source: UniProtKB
  • negative regulation of cell-cell adhesion Source: UniProtKB
  • negative regulation of cell-matrix adhesion Source: UniProtKB
  • negative regulation of cell migration Source: UniProtKB
  • negative regulation of endothelial cell differentiation Source: Ensembl
  • 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 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 by RNA polymerase II Source: BHF-UCL
  • pulmonary artery morphogenesis Source: BHF-UCL
  • pulmonary valve morphogenesis Source: BHF-UCL
  • regulation of cell proliferation Source: UniProtKB
  • response to muramyl dipeptide Source: Ensembl
  • T cell mediated immunity Source: UniProtKB

Keywordsi

Molecular functionDevelopmental protein
Biological processNotch signaling pathway
LigandCalcium

Enzyme and pathway databases

ReactomeiR-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
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-9013507 NOTCH3 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

EuPathDBiHostDB:ENSG00000101384.11
HGNCiHGNC:6188 JAG1
MIMi601920 gene+phenotype
neXtProtiNX_P78504

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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 PublicationCorresponds to variant dbSNP:rs876661123EnsemblClinVar.1
Natural variantiVAR_02630033G → V in ALGS1. 1 Publication1
Natural variantiVAR_01318637L → S in ALGS1. 2 PublicationsCorresponds to variant dbSNP:rs121918352EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs930247415Ensembl.1
Natural variantiVAR_013189129P → R in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs1032920906Ensembl.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 dbSNP:rs121918350EnsemblClinVar.1
Natural variantiVAR_013193184R → G in ALGS1. 1 Publication1
Natural variantiVAR_013194184R → H in ALGS1. 2 PublicationsCorresponds to variant dbSNP:rs121918351EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs797044956EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs863223650EnsemblClinVar.1
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 dbSNP:rs527236046EnsemblClinVar.1
Natural variantiVAR_026325693C → Y in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs566563238Ensembl.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; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149419694EnsemblClinVar.1
Natural variantiVAR_026330902C → S in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs876661122EnsemblClinVar.1
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 dbSNP:rs145895196EnsemblClinVar.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 dbSNP:rs28939668EnsemblClinVar.1

Mutagenesis

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

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi182
GeneReviewsiJAG1
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...) asparagineSequence analysis1
Disulfide bondi187 ↔ 196
Disulfide bondi200 ↔ 212
Glycosylationi217N-linked (GlcNAc...) asparagineSequence 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...) asparagineSequence 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...) asparagineSequence 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...) asparagineSequence 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...) asparagineSequence analysis1
Glycosylationi991N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1045N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1064N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiP78504
MaxQBiP78504
PaxDbiP78504
PeptideAtlasiP78504
PRIDEiP78504
ProteomicsDBi57626

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) (PubMed:18660822).By similarity1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

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

Protein-protein interaction databases

BioGridi106689, 9 interactors
DIPiDIP-46371N
IntActiP78504, 11 interactors
MINTiP78504
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

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

Keywords - Domaini

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

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR001774 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_cys_sf
IPR026219 Jagged/Serrate
IPR011651 Notch_ligand_N
IPR001007 VWF_dom
PfamiView protein in Pfam
PF01414 DSL, 1 hit
PF00008 EGF, 10 hits
PF07645 EGF_CA, 1 hit
PF12661 hEGF, 1 hit
PF07657 MNNL, 1 hit
PRINTSiPR02059 JAGGEDFAMILY
SMARTiView protein in SMART
SM00051 DSL, 1 hit
SM00181 EGF, 16 hits
SM00179 EGF_CA, 14 hits
SM00214 VWC, 1 hit
SM00215 VWC_out, 1 hit
SUPFAMiSSF57184 SSF57184, 3 hits
PROSITEiView protein in PROSITE
PS00010 ASX_HYDROXYL, 10 hits
PS51051 DSL, 1 hit
PS00022 EGF_1, 16 hits
PS01186 EGF_2, 12 hits
PS50026 EGF_3, 15 hits
PS01187 EGF_CA, 8 hits

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 PublicationCorresponds to variant dbSNP:rs876661123EnsemblClinVar.1
Natural variantiVAR_02630033G → V in ALGS1. 1 Publication1
Natural variantiVAR_01318637L → S in ALGS1. 2 PublicationsCorresponds to variant dbSNP:rs121918352EnsemblClinVar.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 dbSNP:rs183974372EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs930247415Ensembl.1
Natural variantiVAR_013189129P → R in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs1032920906Ensembl.1
Natural variantiVAR_048985146V → I. Corresponds to variant dbSNP:rs6040067EnsemblClinVar.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 dbSNP:rs121918350EnsemblClinVar.1
Natural variantiVAR_013193184R → G in ALGS1. 1 Publication1
Natural variantiVAR_013194184R → H in ALGS1. 2 PublicationsCorresponds to variant dbSNP:rs121918351EnsemblClinVar.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 dbSNP:rs121918353EnsemblClinVar.1
Natural variantiVAR_026319252R → G in ALGS1. 1 Publication1
Natural variantiVAR_026320256G → S in ALGS1. 1 Publication1
Natural variantiVAR_026321269P → L in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs797044956EnsemblClinVar.1
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 dbSNP:rs28939668EnsemblClinVar.1
Natural variantiVAR_013201284C → F in ALGS1. 1 Publication1
Natural variantiVAR_013202288W → C in ALGS1. 1 Publication1
Natural variantiVAR_013203386G → R in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs863223650EnsemblClinVar.1
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 dbSNP:rs527236046EnsemblClinVar.1
Natural variantiVAR_026324690Y → D in biliary atresia; extrahepatic. 1 Publication1
Natural variantiVAR_026325693C → Y in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs566563238Ensembl.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 → K1 Publication1
Natural variantiVAR_026328871P → R in biliary atresia; extrahepatic. 1 PublicationCorresponds to variant dbSNP:rs35761929EnsemblClinVar.1
Natural variantiVAR_026329889R → Q in ALGS1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149419694EnsemblClinVar.1
Natural variantiVAR_026330902C → S in ALGS1. 1 PublicationCorresponds to variant dbSNP:rs876661122EnsemblClinVar.1
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 dbSNP:rs145895196EnsemblClinVar.1
Natural variantiVAR_0263361055 – 1056VR → G in ALGS1. 2
Natural variantiVAR_0263371213R → Q in biliary atresia; extrahepatic. 1 PublicationCorresponds to variant dbSNP:rs138007561Ensembl.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 No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiJAG1_HUMAN
AccessioniPrimary (citable) accession number: P78504
Secondary accession number(s): A0AV43
, B4DYR1, E9PCF9, O14902, O15122, Q15816
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 2, 2002
Last modified: July 18, 2018
This is version 198 of the entry and version 3 of the sequence. See 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

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