CA1 Gene - Carbonic Anhydrase 1
Comprehensive genomic and proteomic analysis of the CA1 gene, encoding carbonic anhydrase 1, a key enzyme in carbon dioxide hydration and acid-base homeostasis.
Gene Information Card
| Symbol | CA1 |
|---|---|
| Full Name | Carbonic Anhydrase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.2 |
| NCBI Gene ID | 759 ncbi.nlm.nih.gov/gene/759 |
| Ensembl ID | ENSG00000133742 |
| UniProt ID | P00915 |
| OMIM ID | 114800 |
| HGNC ID | 1368 |
| Aliases | CA-I, Car1, HEL-S-11 |
Description
The CA1 gene encodes carbonic anhydrase 1, a member of the alpha-carbonic anhydrase family. This enzyme catalyzes the reversible hydration of carbon dioxide to bicarbonate and protons, playing a critical role in carbon dioxide transport, pH regulation, and ion transport. CA1 is highly expressed in erythrocytes and is involved in physiological processes such as respiration, renal acidification, and bone resorption.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hemolytic anemia due to carbonic anhydrase I deficiency | Loss of CA1 enzyme activity leads to impaired red blood cell carbon dioxide transport and increased oxidative stress, resulting in hemolysis. | OMIM #114800; ClinVar: pathogenic variants in CA1 associated with autosomal recessive hemolytic anemia. |
| Renal tubular acidosis (possible modifier) | Reduced CA1 activity may contribute to impaired renal acid secretion, though primary role is in erythrocytes. | OMIM #114800; limited evidence from case reports. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Blood | 1000.0 | High |
| Spleen | 50.0 | Medium |
| Lung | 20.0 | Low |
| Kidney | 15.0 | Low |
| Liver | 5.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Erythrocytes | 1000.0 | High expression; major source of CA1 |
| K-562 | 200.0 | Leukemia cell line; moderate expression |
| HEK 293 | 10.0 | Low expression |
| HeLa | 5.0 | 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 | <0.01% | Loss of start codon; predicted loss of function |
| c.29G>A (p.Gly10Asp) | Missense | <0.01% | Reduced enzyme activity; associated with hemolytic anemia |
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Decreased stability and catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Most reported CA1 mutations are loss-of-function, leading to reduced or absent carbonic anhydrase activity, associated with autosomal recessive hemolytic anemia.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CA1.
Dominant Negative (DN)
No dominant-negative mutations have been described for CA1.
View complete mutation data：
Gene Ontology (GO)
| • carbonate dehydratase activity (GO:0004089) | • zinc ion binding (GO:0008270) |
| • one-carbon metabolic process (GO:0006730) | • bicarbonate transport (GO:0015701) |
| • alkaline phosphatase activity (GO:0031420) |
Pathways
• Carbon dioxide transport (Reactome: R-HSA-1237044)
• Carbonic anhydrase activity (Reactome: R-HSA-1475029)
Protein Summary
Carbonic anhydrase 1 (CA1) is a 29 kDa cytosolic enzyme composed of 261 amino acids. It contains a zinc ion in its active site essential for catalytic activity. CA1 is primarily expressed in erythrocytes, where it facilitates carbon dioxide transport and pH homeostasis. The protein structure includes a central beta-sheet flanked by alpha-helices, typical of alpha-carbonic anhydrases. Post-translational modifications include acetylation and phosphorylation, which may modulate activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CA1 Knockout HEK293 Cell Line | EDJ-KQ4174 | Human | 759 | Details Get a Quote |
| CA12 Knockout HEK293 Cell Line | EDJ-KQ4177 | Human | 771 | Details Get a Quote |
| CA10 Knockout HEK293 Cell Line | EDJ-KQ4179 | Human | 56934 | Details Get a Quote |
| CA11 Knockout HEK293 Cell Line | EDJ-KQ4182 | Human | 770 | Details Get a Quote |
| CA14 Knockout HEK293 Cell Line | EDJ-KQ8100 | Human | 23632 | Details Get a Quote |
| CA13 Knockout HEK293 Cell Line | EDJ-KQ12702 | Human | 377677 | Details Get a Quote |
| CA12 Knockout A-549 Cell Line | EDJ-KQ26621 | Human | 771 | Details Get a Quote |
| CA12 Knockout HCT 116 Cell Line | EDJ-KQ26622 | Human | 771 | Details Get a Quote |
| CA12 Knockout HeLa Cell Line | EDJ-KQ26623 | Human | 771 | Details Get a Quote |
| CA11 Knockout A-549 Cell Line | EDJ-KQ26626 | Human | 770 | Details Get a Quote |
| CA11 Knockout HCT 116 Cell Line | EDJ-KQ26627 | Human | 770 | Details Get a Quote |
| CA11 Knockout HeLa Cell Line | EDJ-KQ26628 | Human | 770 | Details Get a Quote |
| CA13 Knockout HCT 116 Cell Line | EDJ-KQ41787 | Human | 377677 | Details Get a Quote |
| CA13 Knockout HeLa Cell Line | EDJ-KQ41788 | Human | 377677 | Details Get a Quote |
| CA1 Knockout HeLa Cell Line | EDJ-KQ52761 | Human | 759 | Details Get a Quote |
