YWHAH Gene Summary [Human]
This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 99% identical to the mouse, rat and bovine orthologs. This gene contains a 7 bp repeat sequence in its 5' UTR, and changes in the number of this repeat have been associated with early-onset schizophrenia and psychotic bipolar disorder. [provided by RefSeq, Jun 2009]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | YWHAH |
| Official Name | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta [Source:HGNC Symbol;Acc:HGNC:12853] |
| Ensembl ID | ENSG00000128245 |
| Bio databases IDs | |
| Aliases | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta, 14-3-3 eta |
| Synonyms | 14-3-3e, 14-3-3 eta, protein AS1, tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta, tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta, tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide, YWHA1 |
| 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 YWHAH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- ligand-dependent nuclear receptor interactor
- 14-3-3 domain
- enzyme binding
- sodium channel regulator
- protein domain specific binding
- protein binding
- identical protein binding
- insulin-like growth factor receptor binding
- actin binding
- ion channel binding
- 14-3-3 protein
- protein heterodimerization
Pathways
Biological processes and signaling networks where the YWHAH gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- Klinefelter syndrome
- glioma formation
- astrocytoma
- schizophrenia
- Parkinson disease
- proximal tubular toxicity
- breast cancer
- endometriosis
- Turner syndrome
role in cell
- expression in
- phosphorylation in
- differentiation
- proliferation
- mitotic catastrophe
- morphogenesis
- aneuploidization
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
- glutaminergic synapse
- presynaptic regions
- Nucleus
- Plasma Membrane
- Mitochondria
- cytosol
- primary cilia
- growth cone
- synapse
- excitatory synapses
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human YWHAH gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glucocorticoid receptor signaling pathway
- signal transduction
- protein localization
- regulation of neuron differentiation
- intracellular protein transport
- substantia nigra development
- negative regulation of dendrite morphogenesis
- regulation of sodium ion transport
- glucocorticoid catabolic process
- positive regulation of transcription, DNA-dependent
- regulation of synaptic plasticity
- regulation of sodium ion transmembrane transporter activity
- membrane depolarization involved in regulation of action potential
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- intercalated disc
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- sodium channel regulator activity
- protein domain specific binding
- identical protein binding
- protein binding
- actin binding
- protein heterodimerization activity
- ion channel binding
- glucocorticoid receptor binding
- enzyme binding
- insulin-like growth factor receptor binding