InnateDB Protein
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IDBP-15826.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CA12
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Protein Name
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carbonic anhydrase XII
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Synonyms
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CAXII; HsT18816;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000178638
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InnateDB Gene
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IDBG-15824 (CA12)
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Protein Structure
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Function |
Reversible hydration of carbon dioxide.
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Subcellular Localization |
Membrane; Single-pass type I membrane protein.
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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.
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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.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
11
[view]
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Protein-Protein |
11
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001148
Alpha carbonic anhydrase
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PFAM |
PF00194
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PRINTS |
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PIRSF |
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SMART |
SM01057
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TIGRFAMs |
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Modification |
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SwissProt |
O43570
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PhosphoSite |
PhosphoSite-O43570
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
771
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UniGene |
Hs.734678
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RefSeq |
NP_001209
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HUGO |
HGNC:1371
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OMIM |
603263
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CCDS |
CCDS10185
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HPRD |
04464
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IMGT |
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EMBL |
AF037335
AF051882
BC000278
BC011691
BC023981
BT006656
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GenPept |
AAC39789
AAC63952
AAH00278
AAH11691
AAH23981
AAP35302
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