JAG1
Sign in to saveAlso known as ABE2, Gsfabe2, Htu, Ozz, Ser-1, AGS, AHD
Jagged1 (JAG1) is one of five cell surface proteins (ligands) that interact with four receptors in the mammalian Notch signaling pathway. The Notch signaling pathway is a highly conserved pathway that functions to establish and regulate cell fate decisions in many organ systems. Once the JAG1-NOTCH (receptor-ligand) interactions take place, a cascade of proteolytic cleavages is triggered resulting in activation of the transcription for downstream target genes. Located on human chromosome 20, the JAG1 gene is expressed in multiple organ systems in the body and causes the autosomal dominant diso
Gene data
JAG1- Name
- jagged canonical Notch ligand 1
- Type
- protein-coding
- Position
- 10,637,684–10,674,396 (−)
- Aliases
- AGS, AGS1, AHD, AWS, CD339, CMT2HH, DCHE, HJ1, JAGL1
- Ensembl
- ENSG00000101384
- RefSeq RNA
- NM_000214.3
- RefSeq protein
- NP_000205.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
jagged canonical Notch ligand 1
- Symbol
- JAG1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 20:10,637,684-10,674,396
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein JAG1 PDB 2KB9.png
Show 5 more facts
- HomoloGene ID
- 180
- exact match
- identifiers.org/ncbigene/182
- genomic end
- 10673999
- genomic start
- 10618332
- cytogenetic location
- 20p12.2
via Wikidata · CC0
~6 min read
Article
8 sectionsContents
- Structure and function
- Expression profile and mouse studies
- Disease phenotype
- See also
- Notes
- References
- Further reading
- External links
Jagged1 (JAG1) is one of five cell surface proteins (ligands) that interact with four receptors in the mammalian Notch signaling pathway. The Notch signaling pathway is a highly conserved pathway that functions to establish and regulate cell fate decisions in many organ systems. Once the JAG1-NOTCH (receptor-ligand) interactions take place, a cascade of proteolytic cleavages is triggered resulting in activation of the transcription for downstream target genes. Located on human chromosome 20, the JAG1 gene is expressed in multiple organ systems in the body and causes the autosomal dominant disorder Alagille syndrome (ALGS) resulting from loss of function mutations within the gene. JAG1 has also been designated as CD339 (cluster of differentiation 339).
==Structure and function== JAG1 was first identified as a ligand that was able to activate notch receptors when the rat gene Jagged encoding a protein homolog was cloned in 1995. The structure of the JAG1 protein includes a small intracellular component, a transmembrane motif, proceeded by an extracellular region containing a cystine-rich region, 16 EGF-like repeats, a DSL domain, and finally a signal peptide totaling 1218 amino acids in length over 26 coding exons.