CACHD1
Calcium Channel and Chemotaxis Receptor Domain Containing 1
Gene Information Card
| Symbol | CACHD1 |
|---|---|
| Full Name | Calcium Channel and Chemotaxis Receptor Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 57685 ncbi.nlm.nih.gov/gene/57685 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q5VUJ9 |
| OMIM ID | 614451 |
| HGNC ID | 26451 |
| Aliases | CACHD1, FLJ10706, dJ366H4.2 |
Description
CACHD1 encodes a protein containing a calcium channel and chemotaxis receptor domain, which may be involved in calcium signaling and cellular chemotaxis. The gene is expressed in various tissues and has been implicated in neurological and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Potential role in neuronal calcium signaling | ClinVar |
| Epilepsy | Altered calcium channel function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Kidney | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma |
| HEK293 | 9.8 | Embryonic kidney |
| HeLa | 5.4 | Cervical cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Unknown significance |
| c.567delA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to loss of function.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • chemotaxis |
| • signal transduction |
Pathways
• Calcium signaling pathway
Protein Summary
The CACHD1 protein contains a calcium channel and chemotaxis receptor domain, suggesting roles in calcium-mediated signaling and cellular migration. It is expressed in brain and other tissues, with potential involvement in neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CACHD1 Knockout HEK293 Cell Line | EDJ-KQ12707 | Human | 57685 | Details Get a Quote |
| CACHD1 Knockout A-549 Cell Line | EDJ-KQ41792 | Human | 57685 | Details Get a Quote |
| CACHD1 Knockout HCT 116 Cell Line | EDJ-KQ41793 | Human | 57685 | Details Get a Quote |
| CACHD1 Knockout HeLa Cell Line | EDJ-KQ41794 | Human | 57685 | Details Get a Quote |
