Version 5.4
Homo sapiens Protein: CA5A
Summary
InnateDB Protein IDBP-45977.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CA5A
Protein Name carbonic anhydrase VA, mitochondrial
Synonyms CA5; CA5AD; CAV; CAVA;
Species Homo sapiens
Ensembl Protein ENSP00000309649
InnateDB Gene IDBG-45975 (CA5A)
Protein Structure
UniProt Annotation
Function Reversible hydration of carbon dioxide. Low activity.
Subcellular Localization Mitochondrion.
Disease Associations 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:0000269PubMed:24530203}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004089 carbonate dehydratase activity
GO:0008270 zinc ion binding
Biological Process
GO:0006730 one-carbon metabolic process
GO:0015701 bicarbonate transport
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
Protein Structure and Domains
PDB ID
InterPro IPR001148 Alpha carbonic anhydrase
PFAM PF00194
PRINTS
PIRSF
SMART SM01057
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P35218
PhosphoSite PhosphoSite-P35218
TrEMBL
UniProt Splice Variant
Entrez Gene 763
UniGene Hs.177446
RefSeq NP_001730
HUGO HGNC:1377
OMIM 114761
CCDS CCDS10965
HPRD 00262
IMGT
EMBL BC137405 BC137411 CH471114 L19297 S80175 S80176 S80177 S80178 S80180 S80181 S80240 U25134
GenPept AAA02890 AAB47048 AAC99806 AAI37406 AAI37412 EAW95372

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca