TPCN1 Gene Summary [Human]
Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008]
Details
| Type | Protein Coding |
| Official Symbol | TPCN1 |
| Official Name | two pore segment channel 1 [Source:HGNC Symbol;Acc:HGNC:18182] |
| Ensembl ID | ENSG00000186815 |
| Bio databases IDs | |
| Aliases | two pore segment channel 1 |
| Synonyms | 5730403B01Rik, KIAA1169, LOC246215, mKIAA1169, TPC1, two pore channel 1, two pore segment channel 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 TPCN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ion transport protein
- amiloride-sensitive sodium channel
- intracellular ligand-gated ion channel
- protein binding
- identical protein binding
- ion channel
- calcium-release channel
- phosphatidylinositol binding
- syntaxin binding
- voltage-gated sodium channel
- binding protein
- ligand-gated ion channel
- protein homodimerization
- cation channel
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- diabetes mellitus
- passive systemic anaphylaxis
role in cell
- quantity
- size
- function
- autophagy by
- release
- pH regulation in
- pH regulation
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
- detergent resistant lipid raft fraction
- cellular membrane
- endosomes
- vesicles
- lysosome
- lysosome membrane
- endosomal membrane
- acrosome
- endolysosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TPCN1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of autophagy
- ion transmembrane transport
- calcium ion transmembrane transport
- viral entry into host cell via endocytosis
- sodium ion transmembrane transport
- calcium-mediated signaling
Cellular Component
Where in the cell the gene product is active
- early endosome membrane
- endosome
- endosome membrane
- recycling endosome membrane
- ion channel complex
- lysosomal membrane
- lysosome
- endolysosome
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein homodimerization activity
- protein binding
- NAADP-sensitive calcium-release channel activity
- syntaxin binding
- voltage-gated channel activity
- phosphatidylinositol-3,5-bisphosphate binding
- ligand-gated sodium channel activity
- voltage-gated sodium channel activity