JAG1

Official Full Name

jagged canonical Notch ligand 1

Organism

Homo sapiens

GeneID

182

Background

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]

Synonyms

AGS; AHD; AWS; HJ1; AGS1; DCHE; CD339; JAGL1; CMT2HH;

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Detailed Information

Recent Research Progress

JAG1 is one of 5 cell surface proteins (ligands) that interact with 4 receptors in the mammalian Notch signaling pathway. Notch signaling plays a crucial role in the determination of cell fate and is very active in the development of many organ systems. The classic JAG1-NOTCH interaction leads to a cascade of proteolytic cleavages resulting in the NOTCH intracellular domain being transported into the nucleus where it functions to activate downstream transcription of target genes. In recent years, JAG1 has been frequently reported to be highly expressed in many types of cancer including breast cancer and adrenocortical carcinoma and is usually associated with poor overall survival.

Expression profiles

JAG1 is widely expressed during mammalian development and is expressed in many tissues and stages of development. Co-expression of JAG1 and Notch in the mammalian rat was first identified in developing nervous system. Nerve progenitor cells that form the central and peripheral nervous systems are expressed. In humans, the expression of JAG1 varies with development and organization. In the adult, JAG1 is highly expressed in the heart, placenta, pancreas and prostate with lower levels found in lung, liver, kidney, thymus, testis and leucocytes.

There is now ample evidence for the role of JAG1 in development of a number of organ systems. It has been shown that, in the heart, JAG1 is expressed within vascular structures of the mammalian heart, correlating with the phenotypic cardiovascular problems found in antilymphocyte globulins (ALGS). Besides, several organ systems associated with ALGS including the kidney, vertebral column and the eye also show high expression levels of JAG1 during development.

JAG1 and disease

ALGS, which is caused by mutations in JAG1 or more rarely NOTCH2, is an autosomal dominant, multisystem disorder. In the original, clinical description of ALGS, diagnosis was made by identification of 3 of the 5 classic features including liver disease, cardiac disease, vertebral defects, eye findings, and characteristic facial features. In addition to these classic features, it has been recognized that a high percentage of patients also have renal and vascular anomalies. Phenotypic effects of a JAG1 mutation are highly penetrant, but with highly variable expressivity. Some reports show that there is no strong correlation between the type and location of JAG1 mutation and severity of the disease, suggesting other genomic modifiers beyond the known JAG1 mutation may be the cause of the variable expressivity that characterizes this disorder.

JAG1 and cancer

The Notch signaling pathway and JAG1 in particular have been implicated in multiple forms of cancer and multiple aspects of cancer biology including tumor angiogenesis, neoplastic cell growth, cancer stem cell maintenance and the metastatic process. It has been reported that JAG1 is up-regulated in breast cancer and correlated with a poor overall breast cancer survival in a dose-dependent fashion. JAG1 is strongly expressed by tumor associated blood vessels in both brain and ovarian cancer. Up-regulation of JAG1 in adrenocortical carcinoma has been shown to enhance proliferation of this aggressive cancer through the activation of NOTCH signaling in cells adjacent to the tumor. In addition to cancer of the breast, brain and ovaries, JAG1 has been implicated in cervical, colorectal, endometrial, gastric, head and neck, hepatocellular, lung, pancreatic, prostate, and kidney cancers. JAG1 has also been shown to play a role in multiple forms of leukemia and lymphoma.

References:

Zhang T H, et al. Long non-coding RNA MALAT1 interacts with miR-124 and modulates tongue cancer growth by targeting JAG1. Oncology Reports, 2017, 37(4):2087.
Jurkiewicz D, et al. Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome. Journal of Applied Genetics, 2014, 55(3):329-336.
Grochowski C M, et al. Jagged1 (JAG1): Structure, Expression, and Disease Associations. Gene, 2016, 576(1):381-384.

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