Reviewed,
UniProtKB/Swiss-Prot P78504 (JAG1_HUMAN)
Last modified
November 25, 2008.
Version 95.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Protein jagged-1 Short name=Jagged1 Short name=hJ1 Alternative name(s): CD_antigen=CD339 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1218 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Ligand for multiple Notch receptors and involved in the mediation of Notch signaling. May be involved in cell-fate decisions during hematopoiesis. Seems to be involved in early and late stages of mammalian cardiovascular development. Inhibits myoblast differentiation By similarity. Enhances fibroblast growth factor-induced angiogenesis (in vitro). |
| Subunit structure | Interacts with NOTCH1, NOTCH2 and NOTCH3 By similarity. |
| Subcellular location | |
| Tissue specificity | Widely expressed in adult and fetal tissues. In cervix epithelium expressed in undifferentiated subcolumnar reserve cells and squamous metaplasia. Expression is up-regulated in cervical squamous cell carcinoma. Expressed in bone marrow cell line HS-27a which supports the long-term maintenance of immature progenitor cells. |
| Developmental stage | Expressed in 32-52 days embryos in the distal cardiac outflow tract and pulmonary artery, major arteries, portal vein, optic vesicle, otocyst, branchial arches, metanephros, pancreas, mesocardium, around the major bronchial branches, and in the neural tube. |
| Involvement in disease | Defects in JAG1 are the cause of Alagille syndrome type 1 (ALGS1) [MIM:118450]. Alagille syndrome is an autosomal dominant multisystem disorder defined clinically by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. Defects in JAG1 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent. The mutation Asp-274 is "leaky". Two populations of proteins are produced from this allele. One population is abnormally glycosylated and is retained intracellularly rather than being transported to the cell surface. A second population is normally glycosylated and is transported to the cell surface, where it is able to signal to the Notch receptor. The Asp-274 protein is temperature sensitive, with more abnormally glycosylated (and nonfunctional) molecules produced at higher temperatures. Carriers of this mutation therefore have more than 50% but less than 100% of the normal concentration of molecules on the cell surface. The cardiac-specific phenotype associated with this mutation suggests that the developing heart is more sensitive than the developing liver to decreased dosage of JAG1 protein. |
| Sequence similarities | Contains 1 DSL domain. Contains 15 EGF-like domains. |
| Sequence caution | The sequence AAC51323.1 differs from that shown. Reason: Frameshift at position 1187. |
Ontologies
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 33 | 33 | Potential | ||||||||
| Chain | 34 – 1218 | 1185 | Protein jagged-1 | PRO_0000007625 | |||||||
Regions | |||||||||||
| Topological domain | 34 – 1067 | 1034 | Extracellular Potential | ||||||||
| Transmembrane | 1068 – 1093 | 26 | Potential | ||||||||
| Topological domain | 1094 – 1218 | 125 | Cytoplasmic Potential | ||||||||
| Domain | 185 – 229 | 45 | DSL | ||||||||
| Domain | 230 – 266 | 37 | EGF-like 1; atypical | ||||||||
| Domain | 296 – 334 | 39 | EGF-like 2 | ||||||||
| Domain | 336 – 372 | 37 | EGF-like 3 | ||||||||
| Domain | 374 – 410 | 37 | EGF-like 4; calcium-binding Potential | ||||||||
| Domain | 412 – 448 | 37 | EGF-like 5; calcium-binding Potential | ||||||||
| Domain | 450 – 485 | 36 | EGF-like 6; calcium-binding Potential | ||||||||
| Domain | 487 – 523 | 37 | EGF-like 7; calcium-binding Potential | ||||||||
| Domain | 525 – 561 | 37 | EGF-like 8 | ||||||||
| Domain | 574 – 627 | 54 | EGF-like 9 | ||||||||
| Domain | 629 – 665 | 37 | EGF-like 10; calcium-binding Potential | ||||||||
| Domain | 667 – 703 | 37 | EGF-like 11; calcium-binding Potential | ||||||||
| Domain | 705 – 741 | 37 | EGF-like 12 | ||||||||
| Domain | 744 – 780 | 37 | EGF-like 13 | ||||||||
| Domain | 782 – 818 | 37 | EGF-like 14; calcium-binding Potential | ||||||||
| Domain | 820 – 856 | 37 | EGF-like 15; calcium-binding Potential | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 143 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 217 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 382 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 559 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 745 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 960 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 991 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1045 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1064 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 234 ↔ 245 | By similarity | |||||||||
| Disulfide bond | 238 ↔ 251 | By similarity | |||||||||
| Disulfide bond | 253 ↔ 262 | By similarity | |||||||||
| Disulfide bond | 300 ↔ 312 | By similarity | |||||||||
| Disulfide bond | 306 ↔ 322 | By similarity | |||||||||
| Disulfide bond | 324 ↔ 333 | By similarity | |||||||||
| Disulfide bond | 340 ↔ 351 | By similarity | |||||||||
| Disulfide bond | 345 ↔ 360 | By similarity | |||||||||
| Disulfide bond | 362 ↔ 371 | By similarity | |||||||||
| Disulfide bond | 378 ↔ 389 | By similarity | |||||||||
| Disulfide bond | 383 ↔ 398 | By similarity | |||||||||
| Disulfide bond | 400 ↔ 409 | By similarity | |||||||||
| Disulfide bond | 416 ↔ 427 | By similarity | |||||||||
| Disulfide bond | 421 ↔ 436 | By similarity | |||||||||
| Disulfide bond | 438 ↔ 447 | By similarity | |||||||||
| Disulfide bond | 454 ↔ 464 | By similarity | |||||||||
| Disulfide bond | 458 ↔ 473 | By similarity | |||||||||
| Disulfide bond | 475 ↔ 484 | By similarity | |||||||||
| Disulfide bond | 491 ↔ 502 | By similarity | |||||||||
| Disulfide bond | 496 ↔ 511 | By similarity | |||||||||
| Disulfide bond | 513 ↔ 522 | By similarity | |||||||||
| Disulfide bond | 529 ↔ 540 | By similarity | |||||||||
| Disulfide bond | 534 ↔ 549 | By similarity | |||||||||
| Disulfide bond | 551 ↔ 560 | By similarity | |||||||||
| Disulfide bond | 578 ↔ 605 | By similarity | |||||||||
| Disulfide bond | 599 ↔ 615 | By similarity | |||||||||
| Disulfide bond | 617 ↔ 626 | By similarity | |||||||||
| Disulfide bond | 633 ↔ 644 | By similarity | |||||||||
| Disulfide bond | 638 ↔ 653 | By similarity | |||||||||
| Disulfide bond | 655 ↔ 664 | By similarity | |||||||||
| Disulfide bond | 671 ↔ 682 | By similarity | |||||||||
| Disulfide bond | 676 ↔ 691 | By similarity | |||||||||
| Disulfide bond | 693 ↔ 702 | By similarity | |||||||||
| Disulfide bond | 709 ↔ 720 | By similarity | |||||||||
| Disulfide bond | 714 ↔ 729 | By similarity | |||||||||
| Disulfide bond | 731 ↔ 740 | By similarity | |||||||||
| Disulfide bond | 748 ↔ 759 | By similarity | |||||||||
| Disulfide bond | 753 ↔ 768 | By similarity | |||||||||
| Disulfide bond | 770 ↔ 779 | By similarity | |||||||||
| Disulfide bond | 786 ↔ 797 | By similarity | |||||||||
| Disulfide bond | 791 ↔ 806 | By similarity | |||||||||
| Disulfide bond | 808 ↔ 817 | By similarity | |||||||||
| Disulfide bond | 824 ↔ 835 | By similarity | |||||||||
| Disulfide bond | 829 ↔ 844 | By similarity | |||||||||
| Disulfide bond | 846 ↔ 855 | By similarity | |||||||||
Natural variations | |||||||||||
| Natural variant | 22 – 25 | 4 | Missing in ALGS1. | VAR_026296 | |||||||
| Natural variant | 31 | 1 | A → V in ALGS1. | VAR_026297 | |||||||
| Natural variant | 33 | 1 | G → D in ALGS1. | VAR_026298 | |||||||
| Natural variant | 33 | 1 | G → S in ALGS1. | VAR_026299 | |||||||
| Natural variant | 33 | 1 | G → V in ALGS1. | VAR_026300 | |||||||
| Natural variant | 37 | 1 | L → S in ALGS1. | VAR_013186 | |||||||
| Natural variant | 39 | 1 | I → S in ALGS1. | VAR_026301 | |||||||
| Natural variant | 40 | 1 | L → P in ALGS1. | VAR_026302 | |||||||
| Natural variant | 45 | 1 | V → L in biliary atresia; extrahepatic. | VAR_026303 | |||||||
| Natural variant | 53 | 1 | N → D in biliary atresia; extrahepatic. | VAR_026304 | |||||||

Clusters with