CA12
| Carbonic anhydrase XII | |||||||||||||
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 PDB rendering based on 1jcz. | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | CA12 ; CAXII; HsT18816 | ||||||||||||
| External IDs | OMIM: 603263 MGI: 1923709 HomoloGene: 20327 IUPHAR: 2747 ChEMBL: 3242 GeneCards: CA12 Gene | ||||||||||||
| EC number | 4.2.1.1 | ||||||||||||
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| Species | Human | Mouse | |||||||||||
| Entrez | 771 | 76459 | |||||||||||
| Ensembl | ENSG00000074410 | ENSMUSG00000032373 | |||||||||||
| UniProt | O43570 | Q8CI85 | |||||||||||
| RefSeq (mRNA) | NM_001218 | NM_178396 | |||||||||||
| RefSeq (protein) | NP_001209 | NP_848483 | |||||||||||
| Location (UCSC) | Chr 15: 63.61 – 63.67 Mb | Chr 9: 66.71 – 66.77 Mb | |||||||||||
| PubMed search | |||||||||||||
Carbonic anhydrase 12 is an enzyme that in humans is encoded by the CA12 gene.[1][2]
Function
Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Two transcript variants encoding different isoforms have been identified for this gene.[2]
Pathology
Mutations in the gene encoding CA12 have been shown to be associated with an autosomal recessive form of hyponatremia due to salt wasting in sweat.[3]
References
- ↑ Türeci O, Sahin U, Vollmar E, Siemer S, Göttert E, Seitz G, Parkkila AK, Shah GN, Grubb JH, Pfreundschuh M, Sly WS (Aug 1998). "Human carbonic anhydrase XII: cDNA cloning, expression, and chromosomal localization of a carbonic anhydrase gene that is overexpressed in some renal cell cancers". Proc Natl Acad Sci U S A 95 (13): 7608–7613. doi:10.1073/pnas.95.13.7608. PMC 22698. PMID 9636197.
- ↑ 2.0 2.1 "Entrez Gene: CA12 carbonic anhydrase XII".
- ↑ Muhammad E, Leventhal N, Parvari G, Hanukoglu A, Hanukoglu I, Chalifa-Caspi V, Feinstein Y, Weinbrand J, Jacoby H, Manor E, Nagar T, Beck JC, Sheffield VC, Hershkovitz E, Parvari R (Apr 2011). "Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of Carbonic Anhydrase 12.". Hum Genet 129 (4): 397–405. doi:10.1007/s00439-010-0930-4. PMID 21184099.
Further reading
- Sahin U, Türeci O, Schmitt H, Cochlovius B, Johannes T, Schmits R, Stenner F, Luo G, Schobert I, Pfreundschuh M (1996). "Human neoplasms elicit multiple specific immune responses in the autologous host". Proc. Natl. Acad. Sci. U.S.A. 92 (25): 11810–11813. doi:10.1073/pnas.92.25.11810. PMC 40492. PMID 8524854.
- Ivanov SV, Kuzmin I, Wei MH, Pack S, Geil L, Johnson BE, Stanbridge EJ, Lerman MI (1998). "Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes". Proc. Natl. Acad. Sci. U.S.A. 95 (21): 12596–12601. doi:10.1073/pnas.95.21.12596. PMC 22876. PMID 9770531.
- Fujikawa-Adachi K, Nishimori I, Taguchi T, Onishi S (1999). "Human carbonic anhydrase XIV (CA14): cDNA cloning, mRNA expression, and mapping to chromosome 1". Genomics 61 (1): 74–81. doi:10.1006/geno.1999.5938. PMID 10512682.
- Karhumaa P, Parkkila S, Türeci O, Waheed A, Grubb JH, Shah G, Parkkila A, Kaunisto K, Tapanainen J, Sly WS, Rajaniemi H (2000). "Identification of carbonic anhydrase XII as the membrane isozyme expressed in the normal human endometrial epithelium". Mol. Hum. Reprod. 6 (1): 68–74. doi:10.1093/molehr/6.1.68. PMID 10611263.
- Kivelä A, Parkkila S, Saarnio J, Karttunen TJ, Kivelä J, Parkkila AK, Waheed A, Sly WS, Grubb JH, Shah G, Türeci O, Rajaniemi H (2000). "Expression of a novel transmembrane carbonic anhydrase isozyme XII in normal human gut and colorectal tumors". Am. J. Pathol. 156 (2): 577–84. doi:10.1016/S0002-9440(10)64762-1. PMC 1850052. PMID 10666387.
- Kivelä AJ, Parkkila S, Saarnio J, Karttunen TJ, Kivelä J, Parkkila AK, Pastoreková S, Pastorek J, Waheed A, Sly WS, Rajaniemi H (2001). "Expression of transmembrane carbonic anhydrase isoenzymes IX and XII in normal human pancreas and pancreatic tumours". Histochem. Cell Biol. 114 (3): 197–204. PMID 11083462.
- Parkkila S, Parkkila AK, Saarnio J, Kivelä J, Karttunen TJ, Kaunisto K, Waheed A, Sly WS, Türeci O, Virtanen I, Rajaniemi H (2001). "Expression of the membrane-associated carbonic anhydrase isozyme XII in the human kidney and renal tumors". J. Histochem. Cytochem. 48 (12): 1601–8. doi:10.1177/002215540004801203. PMID 11101628.
- Wykoff CC, Beasley N, Watson PH, Campo L, Chia SK, English R, Pastorek J, Sly WS, Ratcliffe P, Harris AL (2001). "Expression of the hypoxia-inducible and tumor-associated carbonic anhydrases in ductal carcinoma in situ of the breast". Am. J. Pathol. 158 (3): 1011–9. doi:10.1016/S0002-9440(10)64048-5. PMC 1850356. PMID 11238049.
- Karhumaa P, Kaunisto K, Parkkila S, Waheed A, Pastoreková S, Pastorek J, Sly WS, Rajaniemi H (2001). "Expression of the transmembrane carbonic anhydrases, CA IX and CA XII, in the human male excurrent ducts". Mol. Hum. Reprod. 7 (7): 611–616. doi:10.1093/molehr/7.7.611. PMID 11420383.
- Whittington DA, Waheed A, Ulmasov B, Shah GN, Grubb JH, Sly WS, Christianson DW (2001). "Crystal structure of the dimeric extracellular domain of human carbonic anhydrase XII, a bitopic membrane protein overexpressed in certain cancer tumor cells". Proc. Natl. Acad. Sci. U.S.A. 98 (17): 9545–9550. doi:10.1073/pnas.161301298. PMC 55489. PMID 11493685.
- Kivela AJ, Saarnio J, Karttunen TJ, Kivelä J, Parkkila AK, Pastorekova S, Pastorek J, Waheed A, Sly WS, Parkkila TS, Rajaniemi H (2001). "Differential expression of cytoplasmic carbonic anhydrases, CA I and II, and membrane-associated isozymes, CA IX and XII, in normal mucosa of large intestine and in colorectal tumors". Dig. Dis. Sci. 46 (10): 2179–2186. doi:10.1023/A:1011910931210. PMID 11680594.
- Liao SY, Ivanov S, Ivanova A, Ghosh S, Cote MA, Keefe K, Coca-Prados M, Stanbridge EJ, Lerman MI (2003). "Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma". J. Med. Genet. 40 (4): 257–261. doi:10.1136/jmg.40.4.257. PMC 1735430. PMID 12676895.
- Leppilampi M, Saarnio J, Karttunen TJ, Kivelä J, Pastoreková S, Pastorek J, Waheed A, Sly WS, Parkkila S (2003). "Carbonic anhydrase isozymes IX and XII in gastric tumors". World J. Gastroenterol. 9 (7): 1398–403. PMID 12854129.
- Kyllönen MS, Parkkila S, Rajaniemi H, Waheed A, Grubb JH, Shah GN, Sly WS, Kaunisto K (2003). "Localization of carbonic anhydrase XII to the basolateral membrane of H+-secreting cells of mouse and rat kidney". J. Histochem. Cytochem. 51 (9): 1217–24. doi:10.1177/002215540305100912. PMID 12923247.
- Tarun AS, Bryant B, Zhai W, Solomon C, Shusterman D (2004). "Gene expression for carbonic anhydrase isoenzymes in human nasal mucosa". Chem. Senses 28 (7): 621–629. doi:10.1093/chemse/bjg054. PMID 14578124.
- Kivela AJ, Parkkila S, Saarnio J, Karttunen TJ, Kivela J, Parkkila AK, Bartosova M, Mucha V, Novak M, Waheed A, Sly WS, Rajaniemi H, Pastorekova S, Pastorek J (2005). "Expression of von Hippel-Lindau tumor suppressor and tumor-associated carbonic anhydrases IX and XII in normal and neoplastic colorectal mucosa". World J. Gastroenterol. 11 (17): 2616–25. PMID 15849821.
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