CLPTM1 Gene Summary [Human]
Predicted to be involved in regulation of T cell differentiation in thymus. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | CLPTM1 |
| Official Name | CLPTM1 regulator of GABA type A receptor forward trafficking [Source:HGNC Symbol;Acc:HGNC:2087] |
| Ensembl ID | ENSG00000104853 |
| Bio databases IDs | |
| Aliases | CLPTM1 regulator of GABA type A receptor forward trafficking |
| Synonyms | cleft lip and palate associated transmembrane protein 1, CLPTM1 regulator of GABA type A receptor forward trafficking, HS9, N14 |
| 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 CLPTM1 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
- receptor binding
- Cleft lip and palate transmembrane protein 1 (CLPTM1)
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
- metabolic syndrome X
- Waldenström macroglobulinemia
- IgA nephropathy
- cutaneous melanoma
- cutaneous melanoma cancer
regulates
role in cell
- growth
- differentiation
- inhibition in
- growth in
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
- pH resistant lipid raft fraction
- plasma membrane extracellular face
- growth cone
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CLPTM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cell differentiation
- regulation of T cell differentiation in thymus
Cellular Component
Where in the cell the gene product is active
- membrane
- external side of plasma membrane
- endomembrane system
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- GABA receptor binding