JAGN1 Gene Summary [Human]
The protein encoded by this gene is a transmembrane protein. It functions in the early secretory pathway and is necessary for neutrophil differentiation and survival. Mutations in this gene result in severe congenital neutropenia. [provided by RefSeq, Oct 2014]
Details
| Type | Protein Coding |
| Official Symbol | JAGN1 |
| Official Name | jagunal homolog 1 [Source:HGNC Symbol;Acc:HGNC:26926] |
| Ensembl ID | ENSG00000171135 |
| Bio databases IDs | |
| Aliases | jagunal homolog 1 |
| Synonyms | 5830427H10Rik, GL009, jagunal homolog 1, SCN6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human JAGN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein binding
- Jagunal, ER re-organization during oogenesis
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive severe congenital neutropenia type 3
- autosomal recessive severe congenital neutropenia type 6
- severe congenital neutropenia
regulated by
regulates
- Immunoglobulin
- IgG3
- IgG
- CSF3R
- insulin
- insulin (complex)
- IgM
- IgG1
- IgG2c
- Ighg2b
role in cell
- differentiation
- migration by
- exocytosis by
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum mitochondria contact site
- Endoplasmic Reticulum
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human JAGN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- granulocyte colony-stimulating factor signaling pathway
- neutrophil mediated immunity
- negative regulation of insulin secretion involved in cellular response to glucose stimulus
- vesicle-mediated transport
- protein transport
- defense response to fungus
- endoplasmic reticulum organization
- neutrophil differentiation
- exocytosis
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding