Ptchd1 Gene Summary [Mouse]
Involved in cognition; social behavior; and thalamus development. Acts upstream of or within chemical synaptic transmission and memory. Located in synapse. Is expressed in brain; future brain; olfactory epithelium; and spinal cord. Used to study attention deficit hyperactivity disorder. Human ortholog(s) of this gene implicated in autistic disorder. Orthologous to human PTCHD1 (patched domain containing 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ptchd1 |
| Official Name | patched domain containing 1 [Source:MGI Symbol;Acc:MGI:2685233] |
| Ensembl ID | ENSMUSG00000041552 |
| Bio databases IDs | |
| Aliases | patched domain containing 1 |
| Synonyms | 9630036J22, 9630036J22Rik, AI848149, AUTSX4, CXDELp22.11, DELXP22.11, Gm387, patched domain containing 1, RGD1564527 |
| Species | Mouse, Mus musculus |
| 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 mouse Ptchd1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Patched family
- Sterol-sensing domain of SREBP cleavage-activation
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atrial fibrillation
- susceptibility to X-linked autism type 4
- mental retardation
- hereditary disorder
- hyperactive behavior
- multiple system atrophy
- gait disturbance
- pervasive developmental disorder
- hypotonia
- nonsyndromic X-linked mental retardation
role in cell
- response
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
- dendritic spines
- synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ptchd1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- long-term memory
- social behavior
- short-term memory
- cognition
- smoothened signaling pathway
- synaptic transmission
- thalamus development
Cellular Component
Where in the cell the gene product is active
- synapse
- plasma membrane