Summary of JAG1
The gene codes for a protein, jagged 1. Mutations cause Alagille syndrome [R].
The Function of JAG1
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).
Protein names
Recommended name:
Protein jagged-1Alternative name(s):
Jagged1hJ1
CD antigen CD339
- RS2273061 (JAG1) ??
- RS3790160 (JAG1) ??
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Top Gene-Substance Interactions
JAG1 Interacts with These Diseases
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Substances That Increase JAG1
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Substances That Decrease JAG1
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Advanced Summary
Alagille syndrome At least 226 mutations in the JAG1 gene have been identified in people with Alagille syndrome. Most of these mutations result in an abnormally short Jagged-1 protein that is missing the segment that normally spans the cell membrane (the transmembrane domain). Other mutations interfere with proper transport (trafficking) of the protein within the cell, preventing it from reaching the cell membrane. The loss of Jagged-1 protein at the cell membrane precludes its interaction with Notch proteins and prevents cell signaling. The lack of Notch signaling causes errors in development that result in missing or narrowed bile ducts in the liver, heart defects, distinctive facial features, and changes in other parts of the body. People with JAG1 gene mutations may have one or more of these problems. In particular, some affected individuals have a particular combination of heart defects known as tetralogy of Fallot without other signs or symptoms of Alagille syndrome. The type and severity of problems associated with Alagille syndrome may differ even within the same family. cancers Increased activity (expression) of the JAG1 gene has been linked to certain cancers, including breast cancer and head and neck tumors. The increased expression of the JAG1 gene may promote the development of new blood vessels that nourish a growing tumor. The altered gene expression may also enhance other cancer-related events such as cell division (proliferation) and the inflammatory response.
The JAG1 gene provides instructions for making a protein called Jagged-1, which is involved in an important pathway by which cells can signal to each other. The Jagged-1 protein is inserted into the membranes of certain cells. It connects with other proteins called Notch receptors, which are bound to the membranes of adjacent cells. These proteins fit together like a lock and its key. When a connection is made between the Jagged-1 and Notch proteins, it launches a series of signaling reactions (Notch signaling) affecting cell functions. Notch signaling controls how certain types of cells develop in a growing embryo, especially cells destined to be part of the heart, liver, eyes, ears, and spinal column. The Jagged-1 protein continues to play a role throughout life in the development of new blood cells.
Conditions with Increased Gene Activity
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
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.
Gene Pathways:
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.
Molecular Function:
Biological Processes:
- Angiogenesis
- Aorta Morphogenesis
- Auditory Receptor Cell Differentiation
- Blood Vessel Remodeling
- Cardiac Neural Crest Cell Development Involved In Outflow Tract Morphogenesis
- Cardiac Right Ventricle Morphogenesis
- Cardiac Septum Morphogenesis
- Cell Fate Determination
- Ciliary Body Morphogenesis
- Distal Tubule Development
- Endocardial Cushion Cell Development
- Endothelial Cell Differentiation
- Glomerular Visceral Epithelial Cell Development
- Hemopoiesis
- Keratinocyte Differentiation
- Loop Of Henle Development
- Morphogenesis Of An Epithelial Sheet
- Myoblast Differentiation
- Negative Regulation Of Fat Cell Differentiation
- Negative Regulation Of Neuron Differentiation
- Negative Regulation Of Stem Cell Differentiation
- Nephron Development
- Nervous System Development
- Neuronal Stem Cell Population Maintenance
- Notch Receptor Processing
- Notch Signaling Involved In Heart Development
- Notch Signaling Pathway
- Positive Regulation Of Myeloid Cell Differentiation
- Positive Regulation Of Notch Signaling Pathway
- Positive Regulation Of Osteoblast Differentiation
- Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
- Pulmonary Artery Morphogenesis
- Pulmonary Valve Morphogenesis
- Regulation Of Cell Migration
- Regulation Of Cell Proliferation
- Response To Muramyl Dipeptide
- T Cell Mediated Immunity