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carbonic anhydrase 5A

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Target not currently curated in GtoImmuPdb

Target id: 3093

Nomenclature: carbonic anhydrase 5A

Abbreviated Name: CA VA

Family: Carbonic anhydrases

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 305 16q24.2 CA5A carbonic anhydrase 5A
Mouse - 299 8 70.81 cM Car5a carbonic anhydrase 5a, mitochondrial
Rat - 304 19q12 Ca5a carbonic anhydrase 5A
Previous and Unofficial Names Click here for help
carbonic anhydrase 5a, mitochondrial | carbonic anhydrase 5a
Database Links Click here for help
BRENDA
ChEMBL Target
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Enzyme
KEGG Gene
OMIM
Pharos
RefSeq Nucleotide
RefSeq Protein
UniProtKB
Wikipedia
Enzyme Reaction Click here for help
EC Number: 4.2.1.1

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Activators
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Reference
histamine Small molecule or natural product Click here for species-specific activity table Ligand has a PDB structure Immunopharmacology Ligand Hs Activation - - 1
KA 10 nM. [1]
L-histidine Small molecule or natural product Click here for species-specific activity table Hs Activation - - 2
[2]
amphetamine Small molecule or natural product Approved drug Click here for species-specific activity table Hs Activation - - 1
KA 810 nM. [1]
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Hyperammonemia due to carbonic anhydrase VA deficiency
Description: A metabolic disease caused by an autosomal recessive homozygous mutation in the CA5A gene. Results in onset of infantile hyperammonemic encephalopathy. This condition is characterised by multiple metabolic abnormalities, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine, and insufficient bicarbonate supply to essential mitochondrial enzymes.
OMIM: 615751
Drugs: 
Comments: 
References:  3
Biologically Significant Variants Click here for help
Type:  Missense mutation
Species:  Human
Description:  A missense mutation that reduces enzymatic function.
Amino acid change:  Ser233Pro
Nucleotide change:  697T>C
SNP accession: 
References:  3
General Comments
CA VA is expressed predominantly in the liver and localises to mitochondria.

References

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1. Tanini D, Capperucci A, Supuran CT, Angeli A. (2019) Sulfur, selenium and tellurium containing amines act as effective carbonic anhydrase activators. Bioorg. Chem., 87: 516-522. [PMID:30928874]

2. Temperini C, Scozzafava A, Vullo D, Supuran CT. (2006) Carbonic anhydrase activators. Activation of isozymes I, II, IV, VA, VII, and XIV with l- and d-histidine and crystallographic analysis of their adducts with isoform II: engineering proton-transfer processes within the active site of an enzyme. Chemistry, 12 (27): 7057-66. [PMID:16807956]

3. van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM et al.. (2014) Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood. Am. J. Hum. Genet., 94 (3): 453-61. [PMID:24530203]

How to cite this page

Carbonic anhydrases: carbonic anhydrase 5A. Last modified on 25/07/2019. Accessed on 27/11/2020. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=3093.