CDO1 (Cysteine Dioxygenase Type 1)
Key enzyme in cysteine metabolism and taurine biosynthesis; implicated in cancer and metabolic disorders
Gene Information Card
| Symbol | CDO1 |
|---|---|
| Full Name | Cysteine Dioxygenase Type 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q22.3 |
| NCBI Gene ID | 1036 ncbi.nlm.nih.gov/gene/1036 |
| Ensembl ID | ENSG00000129596 |
| UniProt ID | Q16878 |
| OMIM ID | 603943 |
| HGNC ID | 1795 |
| Aliases | CDO, MGC138373, MGC138375 |
Description
The CDO1 gene encodes cysteine dioxygenase type 1, a non-heme iron enzyme that catalyzes the first step in cysteine catabolism, converting cysteine to cysteine sulfinate. This reaction is critical for taurine biosynthesis, sulfate production, and regulation of intracellular cysteine levels. CDO1 is highly expressed in liver and kidney and is epigenetically silenced in several cancers, suggesting a tumor suppressor role.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types, e.g., breast, colorectal, gastric) | Promoter hypermethylation silences CDO1 expression, leading to altered cysteine metabolism and potential oncogenic effects. | ClinVar, COSMIC, literature |
| Hypertension | Reduced CDO1 activity may impair taurine synthesis, affecting blood pressure regulation. | OMIM, literature |
| Cysteine dioxygenase deficiency | Loss-of-function mutations cause elevated cysteine levels and associated metabolic disturbances. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 78.5 | High |
| Kidney | 45.2 | High |
| Adipose tissue | 12.3 | Medium |
| Brain | 3.1 | Low |
| Heart | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 62.4 | High expression |
| HEK293 (embryonic kidney) | 38.7 | Moderate expression |
| MCF7 (breast cancer) | 1.2 | Low expression (hypermethylated) |
| A549 (lung cancer) | 0.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.146C>T (p.Pro49Leu) | Missense | <0.01% | Reduced enzyme activity |
| c.397G>A (p.Gly133Arg) | Missense | <0.01% | Impaired catalytic function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro49Leu, p.Gly133Arg) reduce or abolish enzyme activity, leading to cysteine accumulation.
Gain of Function (GOF)
No gain-of-function mutations reported in CDO1.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • cysteine dioxygenase activity | • iron ion binding |
| • cysteine catabolic process | • taurine biosynthetic process |
| • cellular response to oxidative stress |
Pathways
• Cysteine and methionine metabolism (KEGG: hsa00270)
• Taurine and hypotaurine metabolism (KEGG: hsa00430)
Protein Summary
Cysteine dioxygenase type 1 (CDO1) is a 200-amino-acid protein that belongs to the cupin superfamily. It requires ferrous iron as a cofactor and utilizes molecular oxygen to oxidize cysteine to cysteine sulfinate. The enzyme is predominantly cytosolic and regulated by substrate availability and post-translational modifications. CDO1 plays a central role in maintaining cellular redox balance and sulfur amino acid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDO1 Knockout HEK293 Cell Line | EDJ-KQ3551 | Human | 1036 | Details Get a Quote |
| CDO1 Knockout HeLa Cell Line | EDJ-KQ52866 | Human | 1036 | Details Get a Quote |
| CDO1 Knockout A-549 Cell Line | EDJ-KQ61336 | Human | 1036 | Details Get a Quote |
| CDO1 Knockout HCT 116 Cell Line | EDJ-KQ69831 | Human | 1036 | Details Get a Quote |
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