CA4
entrez
762
canonical
uniprot
P22748
canonical
ensembl
ENSG00000167434
resolver
ensp
ENSP00000300900
resolver
ensp
ENSP00000790190
resolver
ensp
ENSP00000790193
resolver
genesymbol
CA4
resolver
hgnc
HGNC:1375
resolver
uniprot
B4DQA4
resolver
uniprot
Q6FHI7
resolver
uniprot_entry
CAH4_HUMAN
resolver
uniprot_sec
B4DQA4
resolver
uniprot_sec
Q6FHI7
resolver
activity_regulation
ACTIVITY REGULATION: Activated by histamine, L-adrenaline, D-phenylalanine, L- and D-histidine. Also activated by low concentrations of chloride, bromide and phosphate, but inhibited by higher concentrations of these anions as well as by sulfate, iodide and formate. Inhibited by coumarins, saccharin and Foscarnet (phosphonoformate trisodium salt), and by sulfonamide derivatives including acetazolamide and ethoxzolamide. {ECO:0000269|PubMed:16686544, ECO:0000269|PubMed:16807956, ECO:0000269|PubMed:17127057, ECO:0000269|PubMed:17314045, ECO:0000269|PubMed:17705204, ECO:0000269|PubMed:19186056, ECO:0000269|PubMed:19206230, ECO:0000269|PubMed:9054574}.
uniprot
proteins
amino_acid_sequence
MRMLLALLALSAARPSASAESHWCYEVQAESSNYPCLVPVKWGGNCQKDRQSPINIVTTKAKVDKKLGRFFFSGYDKKQTWTVQNNGHSVMMLLENKASISGGGLPAPYQAKQLHLHWSDLPYKGSEHSLDGEHFAMEMHIVHEKEKGTSRNVKEAQDPEDEIAVLAFLVEAGTQVNEGFQPLVEALSNIPKPEMSTTMAESSLLDLLPKEEKLRHYFRYLGSLTTPTCDEKVVWTVFREPIQLHREQILAFSQKLYYDKEQTVSMKDNVRPLQQLGQRTVIKSGAPGRPLPWALPALLGPMLACLLAGFLR
uniprot
proteins
disease_involvement
DISEASE: Retinitis 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 variants 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.
uniprot
proteins
ec_number
4.2.1.1
uniprot
proteins
function
FUNCTION: Catalyzes the reversible hydration of carbon dioxide into bicarbonate and protons and thus is essential to maintaining intracellular and extracellular pH (PubMed:15563508, PubMed:16686544, PubMed:16807956, PubMed:17127057, PubMed:17314045, PubMed:17652713, PubMed:17705204, PubMed:19186056, PubMed:19206230, PubMed:7625839, PubMed:9054574). May stimulate the sodium/bicarbonate transporter activity of SLC4A4 that acts in pH homeostasis (PubMed:15563508). It is essential for acid overload removal from the retina and retina epithelium, and acid release in the choriocapillaris in the choroid (PubMed:15563508). {ECO:0000269|PubMed:15563508, ECO:0000269|PubMed:16686544, ECO:0000269|PubMed:16807956, ECO:0000269|PubMed:17127057, ECO:0000269|PubMed:17314045, ECO:0000269|PubMed:17652713, ECO:0000269|PubMed:17705204, ECO:0000269|PubMed:19186056, ECO:0000269|PubMed:19206230, ECO:0000269|PubMed:7625839, ECO:0000269|PubMed:9054574}.
uniprot
proteins
mass_dalton
35032
uniprot
proteins
mutagenesis
MUTAGEN 284; /note="S->F: Loss of C-terminal domain removal and abolishes carbonate dehydratase activity."; /evidence="ECO:0000269|PubMed:7625839
uniprot
proteins
protein_family
Alpha-carbonic anhydrase family
uniprot
proteins
pubmed
1311094
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15563508
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16686544
uniprot
proteins
pubmed
16807956
uniprot
proteins
pubmed
17127057
uniprot
proteins
pubmed
17314045
uniprot
proteins
pubmed
17652713
uniprot
proteins
pubmed
17705204
uniprot
proteins
pubmed
19186056
uniprot
proteins
pubmed
19206230
uniprot
proteins
pubmed
20363633
uniprot
proteins
pubmed
20450258
uniprot
proteins
pubmed
2111324
uniprot
proteins
pubmed
7625839
uniprot
proteins
pubmed
8325641
uniprot
proteins
pubmed
8809084
uniprot
proteins
pubmed
8942978
uniprot
proteins
pubmed
9054574
uniprot
proteins
sequence_length
312
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15563508}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:7625839}.
uniprot
proteins