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
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
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Genomic context

Location:: 11p13

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109.20210226	current	GRCh38.p13 (GCF_000001405.39)	11	NC_000011.10 (34438934..34472060)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (34460481..34493607)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A Polymorphism in the Catalase Gene Promoter Confers Protection against Severe RSV Bronchiolitis.
Title: A Polymorphism in the Catalase Gene Promoter Confers Protection against Severe RSV Bronchiolitis.
Oxidative stress enhances the immune response to oxidatively modified catalase enzyme in patients with Graves' disease.
Title: Oxidative stress enhances the immune response to oxidatively modified catalase enzyme in patients with Graves' disease.
Catalase S-Glutathionylation by NOX2 and Mitochondrial-Derived ROS Adversely Affects Mice and Human Neutrophil Survival.
Title: Catalase S-Glutathionylation by NOX2 and Mitochondrial-Derived ROS Adversely Affects Mice and Human Neutrophil Survival.
CAT 419 C/T gene polymorphism was not informative, -89 A/T was associated with risk, and 389 C/T conferred protection against vitiligo along with AT haplotype. VDR BsmI, ApaI, and TaqI gene polymorphisms were not associated with vitiligo in Northwestern Mexicans suggesting a role for CAT gene polymorphisms in vitiligo susceptibility in the Mexican population and a lack of association with VDR gene polymorphisms.
Title: Catalase but not vitamin D receptor gene polymorphisms are associated with nonsegmental vitiligo in Northwestern Mexicans.
The genotype and allele frequency distributions of CAT-262C/T polymorphism in juvenile idiopathic arthritis (JIA)patients were significantly different from those of the controls. The TT genotype (polymorphic homozygous) was associated with a 4.36-fold higher likelihood of having JIA as compared to the CC genotype (wild-type).
Title: The association of CAT-262C/T polymorphism with catalase activity and treatment response in juvenile idiopathic arthritis.
the CAT SNP C-262T is potentially associated with an increased risk of male infertility
Title: Association of polymorphisms in genes coding for antioxidant enzymes and human male infertility.
High catalase expression is associated with the pathogenesis of autism spectrum disorders.
Title: A certain role of SOD/CAT imbalance in pathogenesis of autism spectrum disorders.
While there was no statistically significant significance in terms of genotypes obtained in MnSOD and GPx-3 gene regions (P > 0.05), a significant difference was found in the CAT gene region in terms of genotypes
Title: MnSOD, CAT and GPx-3 genetic polymorphisms in coronary artery disease.
CAT -262C>T polymorphism is associated with reactive gastropathy changes in gastric biopsies and less severe endoscopic lesions.
Title: The CAT-262 C>T, MnSOD Ala16Val, GPX1 Pro198Leu Polymorphisms Related to Oxidative Stress and the Presence of Gastric Lesions.
Low catalase expression confers redox hypersensitivity and identifies an indolent clinical behavior in CLL.
Title: Low <i>catalase</i> expression confers redox hypersensitivity and identifies an indolent clinical behavior in CLL.

Submit: New GeneRIF Correction See all GeneRIFs (253)

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
Acatalasia 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

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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: 342 organisms have orthologs with human gene CAT
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
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
peroxisome targeting sequence binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay 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 targeting to peroxisome	TAS Traceable Author Statement more info
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 drug	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
cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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
mitochondrion	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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
protein-containing complex	IPI Inferred from Physical Interaction more info	PubMed
secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: catalase

Names: epididymis secretory sperm binding protein

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.