{ "uniprot_canonical_ac": "A2IBE2-1", "uniprot_ac": "A2IBE2", "uniprot_id": "A2IBE2_RAT", "mass": { "chemical_mass": 39561.0, "monoisotopic_mass": 39561.0 }, "refseq": { "ac": "NP_001074225", "name": "carbonic anhydrase 12 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074225" }, "gene_names": [ { "name": "Ca12", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2IBE2", "id": "A2IBE2" }, { "name": "Ca12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074225", "id": "NP_001074225" }, { "name": "Car12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074225", "id": "NP_001074225" }, { "name": "Car12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2IBE2", "id": "A2IBE2" } ], "protein_names": [ { "name": "Carbonic anhydrase", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2IBE2#names_and_taxonomy", "id": "A2IBE2" }, { "name": "4.2.1.1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A2IBE2#names_and_taxonomy", "id": "A2IBE2" }, { "name": "carbonic anhydrase 12 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074225", "id": "NP_001074225" }, { "name": "membrane-bound carbonic anhydrase 12; carbonic anyhydrase 12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074225", "id": "NP_001074225" } ], "function": [ { "annotation": "Binding of HIF-1alpha to select hypoxia-responsive elements on CA9/12 promoters, was observed.", "evidence": [ { "database": "RefSeq", "id": "NP_001074225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074225" } ] }, { "annotation": "Reversible hydration of carbon dioxide.", "evidence": [ { "database": "UniProtKB", "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2#function" } ] } ], "disease": [ { "disease_id": "DOID:0111371", "recommended_name": { "id": "DOID:0111371", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111371", "name": "isolated hyperchlorhidrosis", "description": "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in CA12 on chromosome 15q22.2." }, "synonyms": [ { "id": "DOID:0111371", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111371", "name": "HYCHL", "description": "" }, { "id": "DOID:0111371", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111371", "name": "carbonic anhydrase XII deficiency", "description": "" }, { "id": "MONDO:0007747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007747", "name": "Hyperchlorhidrosis, isolated", "description": "" }, { "id": "MONDO:0007747", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007747", "name": "hyperchlorhidrosis, isolated", "description": "" }, { "id": "MIM:143860", "resource": "MIM", "url": "https://www.omim.org/entry/143860", "name": "Hyperchlorhidrosis, isolated", "description": "Hyperchlorhidrosis, isolated" } ], "evidence": [ { "id": "0111371", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/gene/0111371#disease-associations" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ], "common_name": "Rat" } ], "gene": [ { "name": "Ca12", "url": "https://www.uniprot.org/uniprot/A2IBE2", "locus": {} } ], "crossref": [ { "id": "ENSRNOG00000017766", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000017766", "database": "Bgee" }, { "id": "363085", "url": "https://www.ncbi.nlm.nih.gov/gene/363085", "database": "GeneID" }, { "id": "IPR001148", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001148", "database": "InterPro" }, { "id": "IPR018338", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018338", "database": "InterPro" }, { "id": "IPR018430", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018430", "database": "InterPro" }, { "id": "IPR023561", "url": "https://www.ebi.ac.uk/interpro/entry/IPR023561", "database": "InterPro" }, { "id": "IPR036398", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036398", "database": "InterPro" }, { "id": "rno:363085", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:363085", "database": "KEGG Pathway" }, { "id": "TALYCTD", "url": "https://omabrowser.org/oma/group/TALYCTD/", "database": "OMA" }, { "id": "1377476at2759", "url": "http://www.orthodb.org/?query=1377476at2759", "database": "OrthoDB" }, { "id": "PTHR18952", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18952", "database": "PANTHER" }, { "id": "PTHR18952:SF19", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR18952:SF19", "database": "PANTHER" }, { "id": "PF00194", "url": "http://pfam.xfam.org/family/PF00194", "database": "Pfam" }, { "id": "R-RNO-1475029", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1475029", "database": "Reactome" }, { "id": "NP_001074225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074225", "database": "RefSeq" }, { "id": "1306612", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1306612", "database": "RGD" }, { "id": "10748", "url": "https://www.rhea-db.org/rhea/10748", "database": "Rhea" }, { "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2", "database": "UniProtKB" }, { "id": "A2IBE2-1", "url": "https://www.uniprot.org/uniprot/A2IBE2-1", "database": "UniProtKB" } ], "sequence": { "sequence": "MPHCSLHATVVLLLVILKEQPSSSAPLNGSKWTYIGPAGEKNWSKKYPSCGGLLQSPIDLHSDILQYDASLAPLQFQGYNVSVEKLLNLTNDGHSVRLNLNSDMYIQGLQPHQYRAEQLHLHWGNRNDPHGSEHTVSGKHFAAELHIVHYNSDLYSDFGSASDKSEGLAVLAVLIEIGSVNPSYDKIFSHLQHVKYKGQQVLIPGFNIEELLPESPGEYYRYEGSLTTPPCYPTVLWTVFRNPVQISQEQLLALETALYFTHMDDPSPREMVNNFRQVQKFDERLVYISFRQGLLTDTGLSLGIILSVALAGVLGISIVLAVSVWLFKRKKSKKGDNKGVIYKPAIKKEAEVHA", "length": 354, "header": "tr|A2IBE2-1|A2IBE2_RAT Isoform 1 of Carbonic anhydrase OS=Rattus norvegicus OX=10116 GN=Ca12 PE=2 SV=1 CANONICAL=A2IBE2-1" }, "isoforms": [ { "isoform_ac": "A2IBE2-1", "url": "https://www.uniprot.org/uniprot/A2IBE2#A2IBE2-1", "sequence": { "sequence": "MPHCSLHATVVLLLVILKEQPSSSAPLNGSKWTYIGPAGEKNWSKKYPSCGGLLQSPIDLHSDILQYDASLAPLQFQGYNVSVEKLLNLTNDGHSVRLNLNSDMYIQGLQPHQYRAEQLHLHWGNRNDPHGSEHTVSGKHFAAELHIVHYNSDLYSDFGSASDKSEGLAVLAVLIEIGSVNPSYDKIFSHLQHVKYKGQQVLIPGFNIEELLPESPGEYYRYEGSLTTPPCYPTVLWTVFRNPVQISQEQLLALETALYFTHMDDPSPREMVNNFRQVQKFDERLVYISFRQGLLTDTGLSLGIILSVALAGVLGISIVLAVSVWLFKRKKSKKGDNKGVIYKPAIKKEAEVHA", "length": 354, "header": "tr|A2IBE2-1|A2IBE2_RAT Isoform 1 of Carbonic anhydrase OS=Rattus norvegicus OX=10116 GN=Ca12 PE=2 SV=1 CANONICAL=A2IBE2-1" }, "locus": { "chromosome": "8", "start_pos": 72458895, "end_pos": 72405923, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000023952", "url": "https://www.ensembl.org/id/ENSRNOT00000023952" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000023952", "url": "https://www.ensembl.org/id/ENSRNOP00000023952" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Carbonic anhydrases and mucosal vanilloid receptors help mediate the hyperemic response to luminal CO2 in rat duodenum.", "journal": "Gastroenterology", "date": "2006", "authors": "Takeuchi T., Akiba Y., Engel E., Ghayouri S., Guth P.H., Kaunitz J.D., Mizumori M., Swenson E.R.", "evidence": [ { "database": "UniProtKB", "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ], "reference": [ { "type": "PubMed", "id": "16831598", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16831598" } ] }, { "title": "Bicarbonate Recycling by HIF-1-Dependent Carbonic Anhydrase Isoforms 9 and 12 Is Critical in Maintaining Intracellular pH and Viability of Nucleus Pulposus Cells.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2018", "authors": "Silagi ES, Schoepflin ZR, Seifert EL, Merceron C, Schipani E, Shapiro IM, Risbud MV", "evidence": [ { "database": "RefSeq", "id": "NP_001074225", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001074225" } ], "reference": [ { "type": "PubMed", "id": "28940640", "url": "https://www.ncbi.nlm.nih.gov/pubmed/28940640" } ] } ], "pathway": [ { "id": "rno:363085", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:363085", "resource": "KEGG Pathway" }, { "id": "R-RNO-1475029", "name": "Reversible hydration of carbon dioxide", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1475029", "resource": "Reactome", "description": "Reversible hydration of carbon dioxide" } ], "orthologs": [ { "uniprot_canonical_ac": "O43570-1", "protein_name": "Carbonic anhydrase 12", "gene_name": "CA12", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPRRSLHAAAVLLLVILKEQPSSPAPVNGSKWTYFGPDGENSWSKKYPSCGGLLQSPIDLHSDILQYDASLTPLEFQGYNLSANKQFLLTNNGHSVKLNLPSDMHIQGLQSRYSATQLHLHWGNPNDPHGSEHTVSGQHFAAELHIVHYNSDLYPDASTASNKSEGLAVLAVLIEMGSFNPSYDKIFSHLQHVKYKGQEAFVPGFNIEELLPERTAEYYRYRGSLTTPPCNPTVLWTVFRNPVQISQEQLLALETALYCTHMDDPSPREMINNFRQVQKFDERLVYTSFSQVQVCTAAGLSLGIILSLALAGILGICIVVVVSIWLFRRKSIKKGDNKGVIYKPATKMETEAHA", "length": 354 }, "evidence": [ { "id": "20327", "url": "http://www.informatics.jax.org/homology/20327", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q8CI85-1", "protein_name": "Carbonic anhydrase 12", "gene_name": "Ca12", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPHRSLRATVVLLLVILKKQPSSSAPLNGSKWTYVGPAGEKNWSKKYPSCGGLLQSPIDLHSDILQYDASLAPLQFQGYNVSVEKLLNLTNDGHSVRLNLNSDMYIQGLQPHHYRAEQLHLHWGNRNDPHGSEHTVSGKHFAAELHIVHYNSDLYPDFSTASDKSEGLAVLAVLIEIGSANPSYDKIFSHLQHVKYKGQQVLIPGFNIEELLPESPGEYYRYEGSLTTPPCYPTVLWTVFRNPVQISQEQLLALETALYFTHMDDPTPREMINNFRQVQKFDERLVYISFRQGLLTDTGLSLGIILSVALAGVLGISIVLAVSIWLFKRKKSKKGDNKGVIYKPAIKKEAEVHA", "length": 354 }, "evidence": [ { "id": "20327", "url": "http://www.informatics.jax.org/homology/20327", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ], "pmid": "21873635" }, { "name": "integral component of membrane", "id": "GO:0016021", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "evidence": [ { "database": "UniProtKB", "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ], "pmid": "" }, { "name": "hydro-lyase activity", "id": "GO:0016836", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016836", "evidence": [ { "database": "UniProtKB", "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ], "pmid": "21873635" }, { "name": "carbonate dehydratase activity", "id": "GO:0004089", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004089", "evidence": [ { "database": "UniProtKB", "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "one-carbon metabolic process", "id": "GO:0006730", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006730", "evidence": [ { "database": "UniProtKB", "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ], "pmid": "21873635" }, { "name": "chloride ion homeostasis", "id": "GO:0055064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055064", "evidence": [ { "database": "UniProtKB", "id": "A2IBE2", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 28, "end_pos": 30, "annotation": "n_glycosylation_sequon" }, { "start_pos": 42, "end_pos": 44, "annotation": "n_glycosylation_sequon" }, { "start_pos": 80, "end_pos": 82, "annotation": "n_glycosylation_sequon" }, { "start_pos": 88, "end_pos": 90, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "10748", "name": "", "equation": "H(+) + hydrogencarbonate = CO2 + H2O", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q5PPN4-1", "F1LQ08-1", "B5DFG6-1", "B0BNN3-1", "P14141-1", "P27139-1", "P43165-1", "P48284-1", "Q66HG6-1", "F7FL00-1", "A0A0G2JXY4-1", "A2IBE2-1", "B2RZ61-1", "P35218-1", "Q16790-1", "O43570-1", "P43166-1", "Q9ULX7-1", "P00915-1", "P00918-1", "P22748-1", "P23280-1", "Q9Y2D0-1", "P07451-1", "Q8N1Q1-1", "Q64444-1", "Q9QZA0-1", "P13634-1", "P18761-1", "P23589-1", "Q8VHB5-1", "Q99N23-1", "P16015-1", "Q8CI85-1", "Q9D6N1-1", "Q9ERQ8-1", "P00920-1", "Q9WVT6-1" ], "evidence": [ { "id": "10748", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/10748" } ] }, { "id": "R-RNO-1475017", "name": "Carbonic anhydrase dehydrates bicarbonate (plasma membrane)", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A2IBE2-1", "P48284-1", "F7FL00-1" ], "evidence": [ { "id": "R-RNO-1475017", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1475017" } ] }, { "id": "R-RNO-1475025", "name": "Carbonic anhydrase hydrates carbon dioxide (plasma membrane)", "equation": "", "summary": "This event has been computationally inferred from an event that has been demonstrated in another species.

The inference is based on the homology mapping from PANTHER. Briefly, reactions for which all involved PhysicalEntities (in input, output and catalyst) have a mapped orthologue/paralogue (for complexes at least 75% of components must have a mapping) are inferred to the other species. High level events are also inferred for these events to allow for easier navigation.

More details and caveats of the event inference in Reactome. For details on PANTHER see also: http://www.pantherdb.org/about.jsp", "cellular_location": "extracellular region, plasma membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "A2IBE2-1", "P48284-1", "F7FL00-1" ], "evidence": [ { "id": "R-RNO-1475025", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1475025" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "A0A0G2JXY4", "gene_name": "LOC103693605", "activity": [ { "ec_number": "4.2.1.1", "activity": "H(2)CO(3) = CO(2) + H(2)O.", "evidence": [ { "id": "A0A0G2JXY4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2JXY4" } ] }, { "ec_number": "4.2.1.1", "activity": "", "evidence": [ { "id": "A0A0G2JXY4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0A0G2JXY4" } ] } ] }, { "uniprot_ac": "A2IBE2", "gene_name": "Ca12", "activity": [ { "ec_number": "4.2.1.1", "activity": "H(2)CO(3) = CO(2) + H(2)O.", "evidence": [ { "id": "A2IBE2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ] }, { "ec_number": "4.2.1.1", "activity": "", "evidence": [ { "id": "A2IBE2", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A2IBE2" } ] } ] }, { "uniprot_ac": "B0BNN3", "gene_name": "Ca1", "activity": [ { "ec_number": "4.2.1.1", "activity": "H(2)CO(3) = CO(2) + H(2)O.", "evidence": [ { "id": "B0BNN3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B0BNN3" } ] }, { "ec_number": "4.2.1.1", "activity": "", "evidence": [ { "id": "B0BNN3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B0BNN3" } ] } ] }, { "uniprot_ac": "B2RZ61", "gene_name": "Car7", "activity": [ { "ec_number": "4.2.1.1", "activity": "H(2)CO(3) = CO(2) + H(2)O.", "evidence": [ { "id": "B2RZ61", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/B2RZ61" } ] }, { "ec_number": "4.2.1.1", "activity": "", "evidence": [ { "id": "B2RZ61", "database": 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