CDADC1: Cytidine and dCMP Deaminase Domain Containing 1
A putative RNA-editing enzyme with limited functional characterization
Gene Information Card
| Symbol | CDADC1 |
|---|---|
| Full Name | Cytidine and dCMP Deaminase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q14.2 |
| NCBI Gene ID | 81602 ncbi.nlm.nih.gov/gene/81602 |
| Ensembl ID | ENSG00000120693 |
| UniProt ID | Q9BWV3 |
| OMIM ID | 617040 |
| HGNC ID | 26238 |
| Aliases | FLJ10858, MGC131944 |
Description
CDADC1 encodes a protein containing a cytidine and deoxycytidylate deaminase domain, suggesting a role in nucleotide metabolism or RNA editing. The gene is located on chromosome 13q14.2 and is broadly expressed in human tissues. Its precise biological function remains incompletely understood, but it is predicted to catalyze the deamination of cytidine to uridine or dCMP to dUMP.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No established disease association | Not determined | No curated evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No recurrent mutations reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function variants in ClinVar or COSMIC.
Gain of Function (GOF)
No documented gain-of-function variants.
Dominant Negative (DN)
No documented dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity (GO:0016787) | • zinc ion binding (GO:0008270) |
| • nucleus (GO:0005634) |
Pathways
• No curated pathways in Reactome or KEGG
Protein Summary
The CDADC1 protein (UniProt Q9BWV3) is 337 amino acids long and contains a cytidine/deoxycytidylate deaminase domain. It is predicted to localize to the nucleus and may function in RNA editing or nucleotide salvage. No enzymatic activity has been experimentally confirmed in humans.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDADC1 Knockout HEK293 Cell Line | EDJ-KQ9722 | Human | 81602 | Details Get a Quote |
| CDADC1 Knockout A-549 Cell Line | EDJ-KQ36533 | Human | 81602 | Details Get a Quote |
| CDADC1 Knockout HCT 116 Cell Line | EDJ-KQ36534 | Human | 81602 | Details Get a Quote |
| CDADC1 Knockout HeLa Cell Line | EDJ-KQ36535 | Human | 81602 | Details Get a Quote |
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