Description: Homo sapiens catalase (CAT), mRNA. RefSeq Summary (NM_001752): This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]. Transcript (Including UTRs) Position: hg19 chr11:34,460,472-34,493,607 Size: 33,136 Total Exon Count: 13 Strand: + Coding Region Position: hg19 chr11:34,460,561-34,492,980 Size: 32,420 Coding Exon Count: 13
ID:CATA_HUMAN DESCRIPTION: RecName: Full=Catalase; EC=1.11.1.6; FUNCTION: Occurs in almost all aerobically respiring organisms and serves to protect cells from the toxic effects of hydrogen peroxide. Promotes growth of cells including T-cells, B-cells, myeloid leukemia cells, melanoma cells, mastocytoma cells and normal and transformed fibroblast cells. CATALYTIC ACTIVITY: 2 H(2)O(2) = O(2) + 2 H(2)O. COFACTOR: Heme group. COFACTOR: NADP. SUBUNIT: Homotetramer. SUBCELLULAR LOCATION: Peroxisome. PTM: The N-terminus is blocked. DISEASE: Defects in CAT are the cause of acatalasemia (ACATLAS) [MIM:614097]. A metabolic disorder characterized by absence of catalase activity in red cells and is often associated with ulcerating oral lesions. SIMILARITY: Belongs to the catalase family. WEB RESOURCE: Name=Wikipedia; Note=Catalase entry; URL="http://en.wikipedia.org/wiki/Catalase"; WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cat/";
blood catalase levels Forsberg, L. et al. 2001, A common functional C-T substitution polymorphism in the promoter region of the human catalase gene influences transcription factor binding, reporter gene transcription and is correlated to blood catalase levels, Free radical biology & medicine. 2001 Mar;30(5):500-5.
[PubMed 11182520]
we report here the first common (allele frequency in a Swedish population, 28%) genetic variant in a fundamental oxidative stress protection gene with a defined phenotype.
bone density Oh, B. et al. 2007, Associations of catalase gene polymorphisms with bone mineral density and bone turnover markers in postmenopausal women, J Med Genet 2007 44(1) e62.
[PubMed 17209132]
These findings indicate that the +22348C-->T polymorphism and HT4 of CAT may be useful genetic markers for bone metabolism.
catalase activity Ahn, J. et al. 2006, Associations between Catalase Phenotype and Genotype, Cancer Epidemiol Biomarkers Prev 2006 15(6) 1217-22.
[PubMed 16775184]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P04040
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.