CA5A
entrez
763
canonical
uniprot
P35218
canonical
ensembl
ENSG00000174990
resolver
ensp
ENSP00000496993
resolver
ensp
ENSP00000498065
resolver
ensp
ENSP00000677106
resolver
ensp
ENSP00000677115
resolver
ensp
ENSP00000799941
resolver
enst
ENST00000649158
resolver
enst
ENST00000649794
resolver
genesymbol
CA5A
resolver
genesymbol_syn
CA5
resolver
hgnc
HGNC:1377
resolver
uniprot
A0A3B3IRX9
resolver
uniprot
B2RPF2
resolver
uniprot_entry
A0A3B3IRX9_HUMAN
resolver
uniprot_entry
CAH5A_HUMAN
resolver
uniprot_sec
B2RPF2
resolver
activity_regulation
ACTIVITY REGULATION: Activated by L- and D-histidine (PubMed:16807956). Activated by L- and D-phenylalanine (PubMed:16686544). Activated by L-adrenaline (PubMed:17127057). Inhibited by coumarins, sulfonamide derivatives such as acetazolamide and Foscarnet (phosphonoformate trisodium salt) (PubMed:17314045, PubMed:19186056, PubMed:19206230). Activated by histamine (PubMed:17127057). {ECO:0000269|PubMed:16686544, ECO:0000269|PubMed:16807956, ECO:0000269|PubMed:17127057, ECO:0000269|PubMed:17314045, ECO:0000269|PubMed:19186056, ECO:0000269|PubMed:19206230}.
uniprot
proteins
amino_acid_sequence
MLGRNTWKTSAFSFLVEQMWAPLWSRSMRPGRWCSQRSCAWQTSNNTLHPLWTVPVSVPGGTRQSPINIQWRDSVYDPQLKPLRVSYEAASCLYIWNTGYLFQVEFDDATEASGISGGPLENHYRLKQFHFHWGAVNEGGSEHTVDGHAYPAELHLVHWNSVKYQNYKEAVVGENGLAVIGVFLKLGAHHQTLQRLVDILPEIKHKDARAAMRPFDPSTLLPTCWDYWTYAGSLTTPPLTESVTWIIQKEPVEVAPSQLSAFRTLLFSALGEEEKMMVNNYRPLQPLMNRKVWASFQATNEGTRS
uniprot
proteins
disease_involvement
DISEASE: Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD) [MIM:615751]: An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. {ECO:0000269|PubMed:24530203}. 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: Mitochondrial carbonic anhydrase that catalyzes the reversible conversion of carbon dioxide to bicarbonate/HCO3 (PubMed:24530203, PubMed:8356065, PubMed:16807956, PubMed:16686544, PubMed:17127057, PubMed:17314045, PubMed:19186056, PubMed:19206230). Mitochondria are impermeable to HCO3, and thus this intramitochondrial carbonic anhydrase is pivotal in providing HCO3 for multiple mitochondrial enzymes that catalyze the formation of essential metabolites of intermediary metabolism in the urea and Krebs cycles (PubMed:24530203). {ECO:0000269|PubMed:16686544, ECO:0000269|PubMed:16807956, ECO:0000269|PubMed:17127057, ECO:0000269|PubMed:17314045, ECO:0000269|PubMed:19186056, ECO:0000269|PubMed:19206230, ECO:0000269|PubMed:24530203, ECO:0000269|PubMed:8356065}.
uniprot
proteins
mass_dalton
34750
uniprot
proteins
protein_family
Alpha-carbonic anhydrase family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16686544
uniprot
proteins
pubmed
16807956
uniprot
proteins
pubmed
17127057
uniprot
proteins
pubmed
17314045
uniprot
proteins
pubmed
19186056
uniprot
proteins
pubmed
19206230
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24530203
uniprot
proteins
pubmed
7490083
uniprot
proteins
pubmed
8356065
uniprot
proteins
sequence_length
305
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:8356065}.
uniprot
proteins