CA12
entrez
771
canonical
uniprot
O43570
canonical
ensembl
ENSG00000074410
resolver
ensp
ENSP00000178638
resolver
ensp
ENSP00000343088
resolver
ensp
ENSP00000403028
resolver
enst
ENST00000422263
resolver
genesymbol
CA12
resolver
hgnc
HGNC:1371
resolver
uniprot
B2RE24
resolver
uniprot
B3KUB4
resolver
uniprot
F6S7P8
resolver
uniprot
Q53YE5
resolver
uniprot
Q9BWG2
resolver
uniprot_entry
B3KUB4_HUMAN
resolver
uniprot_entry
CAH12_HUMAN
resolver
uniprot_entry
F6S7P8_HUMAN
resolver
uniprot_sec
B2RE24
resolver
uniprot_sec
Q53YE5
resolver
uniprot_sec
Q9BWG2
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA), benzenesulfonamide and derivatives (4-carboxyethylbenzene-sulfonamide, 4-carboxyethylbenzene-sulfonamide ethyl ester, 4-(acetyl-2-aminoethyl)benzene-sulfonamide, 4-aminoethylbenzene-sulfonamide) and Foscarnet (phosphonoformate trisodium salt). Also inhibited by ethoxzolamide and dorzolamide. {ECO:0000269|PubMed:15686894, ECO:0000269|PubMed:17314045, ECO:0000269|PubMed:17407288, ECO:0000269|PubMed:17705204, ECO:0000269|PubMed:19186056, ECO:0000269|PubMed:19206230}.
uniprot
proteins
amino_acid_sequence
MPRRSLHAAAVLLLVILKEQPSSPAPVNGSKWTYFGPDGENSWSKKYPSCGGLLQSPIDLHSDILQYDASLTPLEFQGYNLSANKQFLLTNNGHSVKLNLPSDMHIQGLQSRYSATQLHLHWGNPNDPHGSEHTVSGQHFAAELHIVHYNSDLYPDASTASNKSEGLAVLAVLIEMGSFNPSYDKIFSHLQHVKYKGQEAFVPGFNIEELLPERTAEYYRYRGSLTTPPCNPTVLWTVFRNPVQISQEQLLALETALYCTHMDDPSPREMINNFRQVQKFDERLVYTSFSQVQVCTAAGLSLGIILSLALAGILGICIVVVVSIWLFRRKSIKKGDNKGVIYKPATKMETEAHA
uniprot
proteins
disease_involvement
DISEASE: Hyperchlorhidrosis, isolated (HYCHL) [MIM:143860]: An autosomal recessive disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat. {ECO:0000269|PubMed:21035102, ECO:0000269|PubMed:21184099, ECO:0000269|PubMed:26911677}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.2.1.1
uniprot
proteins
function
FUNCTION: Reversible hydration of carbon dioxide. {ECO:0000269|PubMed:15686894, ECO:0000269|PubMed:19186056, ECO:0000269|PubMed:19206230, ECO:0000269|PubMed:26911677}.
uniprot
proteins
mass_dalton
39451
uniprot
proteins
protein_family
Alpha-carbonic anhydrase family
uniprot
proteins
pubmed
11493685
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15686894
uniprot
proteins
pubmed
17314045
uniprot
proteins
pubmed
17407288
uniprot
proteins
pubmed
17705204
uniprot
proteins
pubmed
19186056
uniprot
proteins
pubmed
19206230
uniprot
proteins
pubmed
21035102
uniprot
proteins
pubmed
21184099
uniprot
proteins
pubmed
26911677
uniprot
proteins
pubmed
9636197
uniprot
proteins
pubmed
9770531
uniprot
proteins
sequence_length
354
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:9636197}; Single-pass type I membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:26911677}; Single-pass type I membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 302..322; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins