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MGP000373

UniProt Annotations

Entry Information
Gene Namecarbonic anhydrase IV
Protein EntryCAH4_HUMAN
UniProt IDP22748
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P22748-1; Sequence=Displayed; Name=2; IsoId=P22748-2; Sequence=VSP_055973, VSP_055974; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=21.5 mM for CO(2) {ECO:0000269|PubMed:18618712};
Catalytic ActivityH(2)CO(3) = CO(2) + H(2)O.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105;
DiseaseRetinitis pigmentosa 17 (RP17) [MIM:600852]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:15563508, ECO:0000269|PubMed:17652713, ECO:0000269|PubMed:20450258}. Note=The disease is caused by mutations affecting the gene represented in this entry. Defective acid overload removal from retina and retinal epithelium, due to mutant CA4, is responsible for photoreceptor degeneration, indicating that impaired pH homeostasis is the most likely cause underlying the RP17 phenotype.
Enzyme RegulationActivated by histamine, L-adrenaline, D- phenylalanine, L- and D-histidine. Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide and Foscarnet (phosphonoformate trisodium salt). {ECO:0000269|PubMed:16686544, ECO:0000269|PubMed:16807956, ECO:0000269|PubMed:17127057, ECO:0000269|PubMed:17314045, ECO:0000269|PubMed:17705204, ECO:0000269|PubMed:18618712, ECO:0000269|PubMed:19186056, ECO:0000269|PubMed:19206230}.
FunctionReversible hydration of carbon dioxide. May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis. It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid. {ECO:0000269|PubMed:15563508}.
SimilarityBelongs to the alpha-carbonic anhydrase family. {ECO:0000305}.
Subcellular LocationCell membrane; Lipid-anchor, GPI-anchor.
SubunitInteracts with SLC4A4. {ECO:0000269|PubMed:15563508, ECO:0000269|PubMed:17652713, ECO:0000269|PubMed:20363633, ECO:0000269|PubMed:8942978}.
Tissue SpecificityExpressed in the endothelium of the choriocapillaris in eyes (at protein level). Not expressed in the retinal epithelium at detectable levels. {ECO:0000269|PubMed:15563508}.
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