JAG1 - jagged canonical Notch ligand 1 Gene
Also Known as AGS; AHD; AWS; HJ1; AGS1; DCHE; CD339; JAGL1; CMT2HH
Species: Homo sapiens
About JAG1
This gene has 9 transcripts (splice variants), 174 orthologues, 5 paralogues and is associated with 8 phenotypes. Ubiquitous expression in placenta (RPKM 27.7), skin (RPKM 22.8) and 24 other tissues.
Summary
The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor Notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through Notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]
JAG1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000214.3 | NP_000205.1 | protein jagged-1 precursor |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables Notch binding |
IPI
IPI: Inferred from physical interaction
|
11006133 | GOA |
| enables molecular adaptor activity |
EXP
EXP: Inferred from Experiment
|
16427310 | GOA |
| enables molecular adaptor activity |
IDA
IDA: Inferred from direct assay
|
16427310 | GOA |
| enables phospholipid binding |
IMP
IMP: Inferred from mutant phenotype
|
22465068 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
18660822 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| colocalizes with membrane |
IMP
IMP: Inferred from mutant phenotype
|
22465068 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
20437614 | GOA |
JAG1 Protein Structure
MNNL: N terminus of Notch ligand (31 - 110)
DSL: Delta serrate ligand (167 - 229)
EGF: EGF-like domain (300 - 332)
EGF: EGF-like domain (340 - 370)
EGF: EGF-like domain (378 - 408)
EGF_CA: Calcium-binding EGF domain (412 - 445)
EGF: EGF-like domain (447 - 483)
EGF: EGF-like domain (491 - 519)
EGF: EGF-like domain (529 - 559)
EGF: EGF-like domain (633 - 662)
EGF: EGF-like domain (671 - 701)
EGF: EGF-like domain (748 - 777)
EGF: EGF-like domain (786 - 815)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1218 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein jagged-1 |
|
JAG1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
JAG1 | P78504 | CD46 | Homo sapiens | P15529 | 23086448 | |
|
Intra
|
JAG1 | P78504 | CD46 | Homo sapiens | P15529 | 23086448 |
Recombinant JAG1 Proteins
| Art. -Nr. | Produktname | Accession | Reinheit |
|---|---|---|---|
| HY-P70399 | Jagged-1/JAG1 Protein, Human (HEK293, Fc) | P78504-1 (Q34-S1046) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P73258 | Jagged-1/JAG1 Protein, Human (HEK293, His) | P78504-1/NP_000205.1 (Q34-S1046) | ≥ 95%, as determined by reducing SDS-PAGE. |
JAG1 Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P80195 | Jagged1 Antibody (YA332) | WB, IHC-P | Human, Mouse, Rat |
| HY-P83346 | Jagged1 Antibody (YA3091) | WB, IHC-P | Human |
| HY-P84438 | Jagged1 Antibody (YA4135) | WB, FC, ELISA | Human |
| HY-P84438A | Jagged1 Antibody (YA4135)(PBS only) | WB, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Alagille Syndrome 1 |
|
|
| Tetralogy Of Fallot |
|
|
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2hh |
|
|
| Heart Disease |
|
|
| Heart, Malformation Of |
|
|
| Atypical Coarctation Of Aorta |
|
|
| Pulmonic Stenosis |
|
|
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
|
| Pulmonary Valve Stenosis |
|
|
| Cholestasis |
|
|
| Aortic Aneurysm, Familial Thoracic 4 |
|
|
| Intrahepatic Cholestasis |
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
|
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
|
| Ventricular Septal Defect |
|
|
| Biliary Atresia, Extrahepatic |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Hajdu-Cheney Syndrome |
|
|
| Biliary Atresia |
|
|
| Aortic Valve Disease 1 |
|
|
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
|
| Neonatal Jaundice |
|
|
| Root Resorption |
|
|
| Cone-Rod Dystrophy 19 |
|
|
| Wolff-Parkinson-White Syndrome |
|
|
| Squamous Cell Carcinoma |
|
|
| Fundus Dystrophy |
|
|
| Hemangioma |
|
|
| Adams-Oliver Syndrome |
|
|
| Spondylocostal Dysostosis |
|
|
| Cervical Squamous Cell Carcinoma |
|
|
| Cholangitis, Primary Sclerosing |
|
|
| Colorectal Cancer |
|
|
| Focal Segmental Glomerulosclerosis |
|
|
| Craniosynostosis |
|
|
| Dilated Cardiomyopathy 1t |
|
|
| Heart Septal Defect |
|
|
| Multiple Sclerosis |
|
|
| Progressive Familial Intrahepatic Cholestasis |
|
|
| Gastric Cancer |
|
|
| Arteriovenous Malformation |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Spinocerebellar Ataxia 44 |
|
|
| Dowling-Degos Disease |
|
|
| Medulloblastoma |
|
|
| Hypoplastic Left Heart Syndrome |
|
|
| Scoliosis |
|
|
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
|
| Double Outlet Right Ventricle |
|
|
| Moyamoya Disease 1 |
|
|
| Breast Cancer |
|
|
| Ovarian Cancer |
|
|
| Atrial Heart Septal Defect |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Left Ventricular Noncompaction |
|
|
| Patent Foramen Ovale |
|
|
| Rasopathy |
|
|
| Noonan Syndrome 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | JAG1 | MGD | MGI:1095416 |
| Bos taurus | JAG1 | VGNC | VGNC:30361 |
| Macaca mulatta | JAG1 | VGNC | VGNC:73808 |
| Felis catus | JAG1 | VGNC | VGNC:67874 |
| Canis familiaris | JAG1 | VGNC | VGNC:42172 |
| Rattus norvegicus | JAG1 | RGD | RGD:2937 |
| Others | JAG1 | NCBI |