CAT catalase [Homo sapiens (human)] - Gene

Summary

Official Symbol: CATprovided by HGNC
Official Full Name: catalaseprovided by HGNC
Primary source: HGNC:HGNC:1516
See related: Ensembl:ENSG00000121691 MIM:115500; Vega:OTTHUMG00000044353
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Broad expression in liver (RPKM 283.8), fat (RPKM 207.7) and 23 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 11p13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	11	NC_000011.10 (34438925..34472060)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (34460472..34493607)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Findings suggest that gene-environment interactions between the catalase polymorphism rs769214 and mold odor may play an important role in childhood allergic rhinitis development.
Title: Interaction Between Catalase Gene Promoter Polymorphisms and Indoor Environmental Exposure in Childhood Allergic Rhinitis.
catalase gene polymorphisms (rs1001179 and rs794316) have roles in cancer susceptibility [meta-analysis]
Title: Two common functional catalase gene polymorphisms (rs1001179 and rs794316) and cancer susceptibility: evidence from 14,942 cancer cases and 43,285 controls.
the association between the different Catalase -262C/T genotypes and Catalase levels in seminal plasma and and male infertility
Title: Association of CAT-262C/T with the concentration of catalase in seminal plasma and the risk for male infertility in Algeria.
This study showed that ADMA, carbonyl groups, CAT and NKA can be useful markers of chronic stress in both males and females with depression, PTSD, and depression concurrent with PTSD.
Title: Evaluation of ADMA, carbonyl groups, CAT and NKA in depressed patients with and without posttraumatic stress disorder.
The investigated MnSOD and Catalase polymorphisms do not predispose to the development of alcoholic Chronic Pancreatitis.
Title: Genetic Variants in the Manganese Superoxide Dismutase 2 Gene and in the Catalase Gene are not Associated With Alcoholic Chronic Pancreatitis.
the CAT C262T polymorphism may be a candidate markerfor cancer risk with type-specific and population-specific effects but not a fine prognostic factor for cancer survival. [meta-analysis]
Title: The Role of Catalase C262T Gene Polymorphism in the Susceptibility and Survival of Cancers.
The CAT1 haplotype could be implicated in the level of metabolic and cardiovascular improvement after bariatric surgery.
Title: Human catalase gene promoter haplotype and cardiometabolic improvement after bariatric surgery.
This study showed that CAT functional SNP rs769217 was significantly associated with primary open angle glaucoma (POAG), implying that the CAT gene variants may play a role in the pathogenesis of POAG in the Chinese population.
Title: Association of catalase polymorphisms with primary open-angle glaucoma in a Chinese population.
By dividing patients into two groups, increased (P-I/R-I) and decreased TBARS (P-II/R-II) at T12 compared to T0, we found an increased CAT activity in conditioned endothelial cells at T12 in both groups (p=0.05 and p=0.001, respectively).
Title: A Long-term Treatment with Silybin in Patients with Non-alcoholic Steatohepatitis Stimulates Catalase Activity in Human Endothelial Cells.
research demonstrated that erysipelas infection predisposition and its clinical characteristics are affected by age, sex and SNPs found in SOD1, SOD2, and catalase genes; presence of SOD1 G7958, SOD2 T2734, and CAT C262 alleles was linked to erysipelas' predisposition
Title: Analysis of Serum Cytokines and Single-Nucleotide Polymorphisms of SOD1, SOD2, and CAT in Erysipelas Patients.

Submit: New GeneRIF Correction See all GeneRIFs (229)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acatalasemia MedGen: C0268419 OMIM: 614097 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	Free radical scavengers such as superoxide dismutase (SOD), dimethylthiourea (DMTU) and catalase attenuate morphine and gp160-induced human monocyte apoptosis	PubMed
Tat	tat	HIV-1 Tat upregulates NQO1, CAT, SOD1, SOD2, and HMOX1 (HO1) mRNA levels in SH-SY5Y cells	PubMed
	tat	Exposure to HIV-1 clade B Tat protein has a greater inhibition of GSS, GPx1, SOD1, and CAT expression compared with exposure to clade C Tat protein in monocyte-derived immature dendritic cells	PubMed
	tat	HIV-1 Tat increases catalase and glutathione peroxidase 1 (GPX1) activities in human cardiac myocyte	PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from KEGG)
Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
Amyotrophic lateral sclerosis (ALS), organism-specific biosystem (from WikiPathways)
Amyotrophic lateral sclerosis (ALS), organism-specific biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
Amyotrophic lateral sclerosis (ALS), conserved biosystem (from KEGG)
Amyotrophic lateral sclerosis (ALS), conserved biosystemAmyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord...
Carbon metabolism, organism-specific biosystem (from KEGG)
Carbon metabolism, organism-specific biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
Carbon metabolism, conserved biosystem (from KEGG)
Carbon metabolism, conserved biosystemCarbon metabolism is the most basic aspect of life. This map presents an overall view of central carbon metabolism, where the number of carbons is shown for each compound denoted by a circle, excludi...
Cellular responses to stress, organism-specific biosystem (from REACTOME)
Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
DNA Damage Response (only ATM dependent), organism-specific biosystem (from WikiPathways)
DNA Damage Response (only ATM dependent), organism-specific biosystemThis is the second pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and TP53) which are connected with the first DNA damage response pathway. In...
Detoxification of Reactive Oxygen Species, organism-specific biosystem (from REACTOME)
Detoxification of Reactive Oxygen Species, organism-specific biosystemReactive oxygen species such as superoxide (O2.-), peroxides (ROOR), singlet oxygen, peroxynitrite (ONOO-), and hydroxyl radical (OH.) are generated by cellular processes such as respiration (reviewe...
Folate Metabolism, organism-specific biosystem (from WikiPathways)
Folate Metabolism, organism-specific biosystem
Folate Metabolism
FoxO family signaling, organism-specific biosystem (from Pathway Interaction Database)
FoxO family signaling, organism-specific biosystem
FoxO family signaling
FoxO signaling pathway, organism-specific biosystem (from KEGG)
FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
Glyoxylate and dicarboxylate metabolism, organism-specific biosystem (from KEGG)
Glyoxylate and dicarboxylate metabolism, organism-specific biosystem
Glyoxylate and dicarboxylate metabolism
Glyoxylate and dicarboxylate metabolism, conserved biosystem (from KEGG)
Glyoxylate and dicarboxylate metabolism, conserved biosystem
Glyoxylate and dicarboxylate metabolism
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
Longevity regulating pathway, organism-specific biosystem (from KEGG)
Longevity regulating pathway, organism-specific biosystemRegulation of longevity depends on genetic and environmental factors. Caloric restriction (CR), that is limiting food intake, is recognized in mammals as the best characterized and most reproducible ...
Longevity regulating pathway - multiple species, organism-specific biosystem (from KEGG)
Longevity regulating pathway - multiple species, organism-specific biosystemAging is a complex process of accumulation of molecular, cellular, and organ damage, leading to loss of function and increased vulnerability to disease and death. Despite the complexity of aging, rec...
Longevity regulating pathway - multiple species, conserved biosystem (from KEGG)
Longevity regulating pathway - multiple species, conserved biosystemAging is a complex process of accumulation of molecular, cellular, and organ damage, leading to loss of function and increased vulnerability to disease and death. Despite the complexity of aging, rec...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
Neutrophil degranulation, organism-specific biosystem (from REACTOME)
Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
Oxidative Stress, organism-specific biosystem (from WikiPathways)
Oxidative Stress, organism-specific biosystemOxidative stress represents an imbalance between the production and manifestation of reactive oxygen species and a biological system's ability to readily detoxify the reactive intermediates or to rep...
Peroxisome, organism-specific biosystem (from KEGG)
Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
Peroxisome, conserved biosystem (from KEGG)
Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
Purine catabolism, organism-specific biosystem (from REACTOME)
Purine catabolism, organism-specific biosystemThe purine bases guanine and hypoxanthine (derived from adenine by events in the purine salvage pathways) are converted to xanthine and then to uric acid, which is excreted from the body (Watts 1974)...
Purine metabolism, organism-specific biosystem (from REACTOME)
Purine metabolism, organism-specific biosystemThe events of human purine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of inosine 5'-monophosphate (IMP), the biosynthesis of other purine ribo...
Selenium Micronutrient Network, organism-specific biosystem (from WikiPathways)
Selenium Micronutrient Network, organism-specific biosystem
Selenium Micronutrient Network
Tryptophan metabolism, organism-specific biosystem (from KEGG)
Tryptophan metabolism, organism-specific biosystem
Tryptophan metabolism
Tryptophan metabolism, conserved biosystem (from KEGG)
Tryptophan metabolism, conserved biosystem
Tryptophan metabolism
Tryptophan metabolism, organism-specific biosystem (from WikiPathways)
Tryptophan metabolism, organism-specific biosystem
Tryptophan metabolism
ethanol degradation IV, organism-specific biosystem (from BIOCYC)
ethanol degradation IV, organism-specific biosystemThis ethanol degradation pathway begins with conversion of ethanol to acetaldehyde by peroxisomal catalase . The resulting acetaldehyde passes from the peroxisome to the cytoplasm and into the mitoch...
ethanol degradation IV, conserved biosystem (from BIOCYC)
ethanol degradation IV, conserved biosystemThis ethanol degradation pathway begins with conversion of ethanol to acetaldehyde by |FRAME: CPLX66-121 "peroxisomal catalase"| |CITS: [SALWAYJG2002]|. The resulting acetaldehyde passes from the per...
reactive oxygen species degradation, organism-specific biosystem (from BIOCYC)
reactive oxygen species degradation, organism-specific biosystemGeneral Background All organisms living in an aerobic environment are exposed to reactive oxygen species (ROS) that are formed through metabolic processes and various environmental stresses . ROS ar...
reactive oxygen species degradation, conserved biosystem (from BIOCYC)
reactive oxygen species degradation, conserved biosystemGeneral Background All organisms living in an aerobic environment are exposed to reactive oxygen species (ROS) that are formed through metabolic processes and various environmental stresses |CITS: [...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G66724 (e-PCR)
- UniSTS:166912

G66721 (e-PCR)
- UniSTS:166913

RH45987 (e-PCR)
- UniSTS:47879

STS-H15685 (e-PCR)
- UniSTS:44595

SHGC-132034 (e-PCR)
- UniSTS:173881

CAT_1268 (e-PCR)
- UniSTS:277054

RH27361 (e-PCR)
- UniSTS:83795

GDB:197896 (e-PCR)
- UniSTS:155991

RH78515 (e-PCR)
- UniSTS:42608

NoName (e-PCR)
- UniSTS:488057

WI-19159 (e-PCR)
- UniSTS:34683

GDB:181548 (e-PCR)
- UniSTS:155274

D11S4340 (e-PCR)
- UniSTS:76971

RH26629 (e-PCR)
- UniSTS:93107

RH122649 (e-PCR)
- UniSTS:135094

STS-X04076 (e-PCR)
- UniSTS:81147

G66723 (e-PCR)
- UniSTS:166909

G66722 (e-PCR)
- UniSTS:166910

G66725 (e-PCR)
- UniSTS:166911

Homology

Homologs of the CAT gene: The CAT gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, N.crassa, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 223 organisms have orthologs with human gene CAT
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NADP binding	IDA Inferred from Direct Assay more info	PubMed
aminoacylase activity	IEA Inferred from Electronic Annotation more info
antioxidant activity	IDA Inferred from Direct Assay more info	PubMed
catalase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
catalase activity	IDA Inferred from Direct Assay more info	PubMed
catalase activity	TAS Traceable Author Statement more info
enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
heme binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
heme binding	IDA Inferred from Direct Assay more info	PubMed
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity, acting on peroxide as acceptor	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
UV protection	IMP Inferred from Mutant Phenotype more info	PubMed
aerobic respiration	IEA Inferred from Electronic Annotation more info
aging	IEA Inferred from Electronic Annotation more info
cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
cellular response to oxidative stress	TAS Traceable Author Statement more info
cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
hemoglobin metabolic process	IEA Inferred from Electronic Annotation more info
hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
hydrogen peroxide catabolic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of NF-kappaB transcription factor activity	IEA Inferred from Electronic Annotation more info
negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
neutrophil degranulation	TAS Traceable Author Statement more info
osteoblast differentiation	HDA more info	PubMed
positive regulation of NF-kappaB transcription factor activity	IEA Inferred from Electronic Annotation more info
positive regulation of cell division	IEA Inferred from Electronic Annotation more info
positive regulation of phosphatidylinositol 3-kinase signaling	IEA Inferred from Electronic Annotation more info
protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
protein targeting to peroxisome	TAS Traceable Author Statement more info
protein tetramerization	IDA Inferred from Direct Assay more info	PubMed
response to L-ascorbic acid	IEA Inferred from Electronic Annotation more info
response to activity	IEA Inferred from Electronic Annotation more info
response to cadmium ion	IEA Inferred from Electronic Annotation more info
response to estradiol	IEA Inferred from Electronic Annotation more info
response to ethanol	IEA Inferred from Electronic Annotation more info
response to fatty acid	IEA Inferred from Electronic Annotation more info
response to hydrogen peroxide	IBA Inferred from Biological aspect of Ancestor more info	PubMed
response to hyperoxia	IEA Inferred from Electronic Annotation more info
response to hypoxia	IEA Inferred from Electronic Annotation more info
response to inactivity	IEA Inferred from Electronic Annotation more info
response to insulin	IEA Inferred from Electronic Annotation more info
response to lead ion	IEA Inferred from Electronic Annotation more info
response to light intensity	IEA Inferred from Electronic Annotation more info
response to ozone	IEA Inferred from Electronic Annotation more info
response to phenylpropanoid	IEA Inferred from Electronic Annotation more info
response to reactive oxygen species	IMP Inferred from Mutant Phenotype more info	PubMed
response to vitamin A	IEA Inferred from Electronic Annotation more info
response to vitamin E	IEA Inferred from Electronic Annotation more info
triglyceride metabolic process	IEA Inferred from Electronic Annotation more info
ureteric bud development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
extracellular exosome	HDA more info	PubMed
extracellular region	TAS Traceable Author Statement more info
ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
focal adhesion	HDA more info	PubMed
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
lysosome	IEA Inferred from Electronic Annotation more info
membrane	HDA more info	PubMed
mitochondrial intermembrane space	IEA Inferred from Electronic Annotation more info
peroxisomal matrix	TAS Traceable Author Statement more info
peroxisomal membrane	ISS Inferred from Sequence or Structural Similarity more info
peroxisome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
peroxisome	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info
secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: catalase

NP_001743.1

EC 1.11.1.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.