NFAT5 Gene Summary [Human]
The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | NFAT5 |
| Official Name | nuclear factor of activated T cells 5 [Source:HGNC Symbol;Acc:HGNC:7774] |
| Ensembl ID | ENSG00000102908 |
| Bio databases IDs | |
| Aliases | nuclear factor of activated T cells 5, tonicity-responsive enhancer binding protein |
| Synonyms | B130038B15RIK, CAG-8, CAG80, mKIAA0827, Nfat, NFATC5, NFATL1, NFATZ, nuclear factor of activated T-cells 5, OREBP, TONEBP |
| 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 NFAT5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- activation domain
- transcription regulator
- nuclear export signal
- DNA binding domain
- nucleic acid binding
- IPT
- Rel homology dimerization domain
- nuclear localization sequence
- transcription activation domain
- auxiliary export domain
- chromatin binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- IDD5 domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- double-stranded DNA binding
- N-terminal sub-domain of the Rel homology domain (RHD)
- modulatory domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the NFAT5 gene in human plays a role, providing insight into its function and relevance in health or disease.
- April Mediated Signaling
- B Cell Activating Factor Signaling
- Calcium Signaling
- CD28 Signaling in T Helper Cells
- Cellular Effects of Sildenafil (Viagra)
- Chronic Myeloid Leukemia Signaling
- fMLP Signaling in Neutrophils
- G-Protein Coupled Receptor Signaling
- Glucocorticoid Receptor Signaling
- iCOS-iCOSL Signaling in T Helper Cells
- IL-12 Signaling and Production in Macrophages
- Natural Killer Cell Signaling
- Netrin Signaling
- PI3K Signaling in B Lymphocytes
- PKCθ Signaling in T Lymphocytes
- Protein Kinase A Signaling
- Regulation of IL-2 Expression in Activated and Anergic T Lymphocytes
- Role of Macrophages, Fibroblasts and Endothelial Cells in Rheumatoid Arthritis
- Role of NFAT in Regulation of the Immune Response
- Role of Osteoblasts, Osteoclasts and Chondrocytes in Rheumatoid Arthritis
- Systemic Lupus Erythematosus Signaling
- T Cell Receptor Signaling
- Th17 Activation Pathway
- Wnt/Ca+ pathway
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial neoplasia
- breast cancer
- epithelial cancer
- cancer
- interstitial nephritis
- chronic kidney disease
- non-insulin-dependent diabetes mellitus
- edema
- Alzheimer disease
- diabetes mellitus
role in cell
- killing
- apoptosis
- activation in
- formation
- production in
- DNA damage response
- expression in
- phosphorylation in
- proliferation
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Cytoplasm
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NFAT5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- calcineurin-NFAT signaling cascade
- signal transduction
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- transcription from RNA polymerase II promoter
- response to DNA damage stimulus
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- positive regulation of gene expression
- cellular hyperosmotic response
- cellular response to cytokine stimulus
- cytokine production
- regulation of calcineurin-NFAT signaling cascade
Cellular Component
Where in the cell the gene product is active
- nucleus
- transcription factor complex
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- transcription factor binding
- chromatin binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity