TTYH1 Gene Summary [Human]
This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-independent, volume-sensitive large conductance chloride(-) channel. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jan 2011]
Details
| Type | Protein Coding |
| Official Symbol | TTYH1 |
| Official Name | tweety family member 1 [Source:HGNC Symbol;Acc:HGNC:13476] |
| Ensembl ID | ENSG00000167614 |
| Bio databases IDs | |
| Aliases | tweety family member 1 |
| Synonyms | 4930459B04Rik, 6330408P11Rik, mTTY1, tty, TTY1, tweety family member 1 |
| 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 TTYH1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- volume-sensitive anion channel
- tweety N-terminal domain
- chloride channel
- calcium ion binding
- protein binding
- ion channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- idiopathic pulmonary fibrosis
- early onset hypertension
- adenoid cystic carcinoma
role in cell
- proliferation
- expression in
- number
- differentiation
- abnormal morphology
- assembly
- sphere formation
- morphogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- cellular membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- synapse
- smooth endoplasmatic reticulum
- filopodia
- axons
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TTYH1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ion transmembrane transport
- iron ion transport
- L-glutamate transport
- cell-substrate adhesion
- chloride transport
- filopodium assembly
- mitotic cell cycle
- iron ion transmembrane transport
Cellular Component
Where in the cell the gene product is active
- chloride channel complex
- filopodium membrane
- smooth endoplasmic reticulum membrane
- membrane
- filopodium tip
- synapse
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- intracellular calcium activated chloride channel activity
- iron ion transmembrane transporter activity
- calcium ion binding
- volume-sensitive chloride channel activity
- chloride channel activity
- volume-sensitive anion channel activity