Version 5.4
Homo sapiens Protein: CA12
Summary
InnateDB Protein IDBP-15826.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CA12
Protein Name carbonic anhydrase XII
Synonyms CAXII; HsT18816;
Species Homo sapiens
Ensembl Protein ENSP00000178638
InnateDB Gene IDBG-15824 (CA12)
Protein Structure
UniProt Annotation
Function Reversible hydration of carbon dioxide.
Subcellular Localization Membrane; Single-pass type I membrane protein.
Disease Associations Hyperchlorhidrosis, isolated (HCHLH) [MIM:143860]: A 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:0000269PubMed:21035102}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in colon, kidney, prostate, intestine and activated lymphocytes. Expressed at much higher levels in the renal cell cancers than in surrounding normal kidney tissue. Moderately expressed in pancreas, ovary and testis.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 11 [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:0005886 plasma membrane
GO:0016021 integral component of membrane
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 O43570
PhosphoSite PhosphoSite-O43570
TrEMBL
UniProt Splice Variant
Entrez Gene 771
UniGene Hs.734678
RefSeq NP_001209
HUGO HGNC:1371
OMIM 603263
CCDS CCDS10185
HPRD 04464
IMGT
EMBL AF037335 AF051882 BC000278 BC011691 BC023981 BT006656
GenPept AAC39789 AAC63952 AAH00278 AAH11691 AAH23981 AAP35302

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