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Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This gene encodes carbonic anhydrase 5B. CA5B, and the related CA5A gene, has its expression localized in the mitochondria though CA5B has a wider tissue distribution than CA5A, which is restricted to the liver, kidneys, and skeletal muscle. A carbonic anhydrase pseudogene (CA5BP1) is adjacent to the CA5B gene and these two loci produce CA5BP1-CA5B readthrough transcripts. [provided by RefSeq, Jan 2019]
CA5B (Carbonic Anhydrase 5B) is a Protein Coding gene. Diseases associated with CA5B include Carbonic Anhydrase Va Deficiency and Sulfonamide Allergy. Among its related pathways are Nitrogen metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include carbonate dehydratase activity. An important paralog of this gene is CA5A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004089 | carbonate dehydratase activity | IEA,IBA | 21873635 |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0016829 | lyase activity | IEA | -- |
GO:0016836 | hydro-lyase activity | IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005739 | mitochondrion | IEA,IDA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
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2 | Nitrogen metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006730 | one-carbon metabolic process | IBA | 21873635 |
GO:0009617 | response to bacterium | IEA | -- |
GO:0015701 | bicarbonate transport | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Zonisamide | Approved, Investigational | Pharma | Target, inhibitor | Antiepileptic with anticonvulsant and mechanistic effect | 76 | |
Benzthiazide | Approved | Pharma | Target, inhibitor | 0 | ||
Cyclothiazide | Approved | Pharma | Target, inhibitor | 0 | ||
Carbon dioxide | Approved, Investigational, Vet_approved | Pharma | 0 | |||
Water | Approved | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Hydrogen carbonate |
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71-52-3 |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||||||
SP6: | - | - | |||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||
SP8: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CA5B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CA5B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CA5B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Car5b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Car5b 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CA5B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CA5B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CA5B 30 |
|
||
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ca5b 30 |
|
||
Str.16738 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.25642 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ca5 30 31 |
|
OneToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CAH1 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | cah-3 32 |
|
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2739978 | CNV | deletion | 23290073 |
Disorder | Aliases | PubMed IDs |
---|---|---|
carbonic anhydrase va deficiency |
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sulfonamide allergy |
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intracranial hypertension, idiopathic |
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seborrheic dermatitis |
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