PTCHD1 Gene Summary [Human]
This gene encodes a membrane protein with a patched domain. The encoded protein is similar to Drosophila proteins which act as receptors for the morphogen sonic hedgehog. Deletions in this gene, which is located on the X chromosome, are associated with intellectual disability and autism (PMID: 21091464, PMID: 20844286). [provided by RefSeq, Aug 2011]
Details
| Type | Protein Coding |
| Official Symbol | PTCHD1 |
| Official Name | patched domain containing 1 [Source:HGNC Symbol;Acc:HGNC:26392] |
| Ensembl ID | ENSG00000165186 |
| Bio databases IDs | |
| Aliases | patched domain containing 1 |
| Synonyms | 9630036J22, 9630036J22Rik, AI848149, AUTSX4, CXDELp22.11, DELXP22.11, Gm387, patched domain containing 1, RGD1564527 |
| 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 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 human 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