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; AllianceGenome:HGNC:1516
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
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (34438934..34472060)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (34575773..34608901)
RS_2024_09	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:

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).
Title: A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).
Parkin inhibits proliferation and migration of bladder cancer via ubiquitinating Catalase.
Title: Parkin inhibits proliferation and migration of bladder cancer via ubiquitinating Catalase.
Superoxide Dismutase (rs2070424, rs4880, rs2536512) and Catalase (rs794316, rs1001179) SNPs and their Association with Breast Cancer Risk: Findings from a Hospital Based Case-Control Study.
Title: Superoxide Dismutase (rs2070424, rs4880, rs2536512) and Catalase (rs794316, rs1001179) SNPs and their Association with Breast Cancer Risk: Findings from a Hospital Based Case-Control Study.
Non-Alcoholic Fatty Liver Disease Is Associated with a Decreased Catalase (CAT) Level, CT Genotypes and the T Allele of the -262 C/T CAT Polymorphism.
Title: Non-Alcoholic Fatty Liver Disease Is Associated with a Decreased Catalase (CAT) Level, CT Genotypes and the T Allele of the -262 C/T CAT Polymorphism.
Differences in catalase levels between malaria-infected individuals and uninfected controls: a systematic review and meta-analysis.
Title: Differences in catalase levels between malaria-infected individuals and uninfected controls: a systematic review and meta-analysis.
Variation of the genes encoding antioxidant enzymes SOD2 (rs4880), GPX1 (rs1050450), and CAT (rs1001179) and susceptibility to male infertility: a genetic association study and in silico analysis.
Title: Variation of the genes encoding antioxidant enzymes SOD2 (rs4880), GPX1 (rs1050450), and CAT (rs1001179) and susceptibility to male infertility: a genetic association study and in silico analysis.
Association of C-262 polymorphism in catalase gene with rheumatoid arthritis.
Title: Association of C-262 polymorphism in catalase gene with rheumatoid arthritis.
Evaluation of CAT Variants A-89T, C389T, and C419T in Patients with Vitiligo in the Saudi Population.
Title: Evaluation of CAT Variants A-89T, C389T, and C419T in Patients with Vitiligo in the Saudi Population.
Intensity of Depression Symptoms Is Negatively Associated with Catalase Activity in Master Athletes.
Title: Intensity of Depression Symptoms Is Negatively Associated with Catalase Activity in Master Athletes.
Catalase and interleukin-6 serum elevation in a prediction of treatment-resistance in male schizophrenia patients.
Title: Catalase and interleukin-6 serum elevation in a prediction of treatment-resistance in male schizophrenia patients.

Submit: New GeneRIF Correction See all GeneRIFs (279)

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

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in UV protection	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in aerobic respiration	IEA Inferred from Electronic Annotation more info
involved_in cellular detoxification of hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in hemoglobin metabolic process	IEA Inferred from Electronic Annotation more info
involved_in hydrogen peroxide catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hydrogen peroxide catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoblast differentiation	HDA more info	PubMed
involved_in positive regulation of cell division	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA Inferred from Electronic Annotation more info
involved_in response to L-ascorbic acid	IEA Inferred from Electronic Annotation more info
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to amitrole	IEA Inferred from Electronic Annotation more info
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to fatty acid	IEA Inferred from Electronic Annotation more info
involved_in response to hydrogen peroxide	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to hyperoxia	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to inactivity	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to lead ion	IEA Inferred from Electronic Annotation more info
involved_in response to light intensity	IEA Inferred from Electronic Annotation more info
involved_in response to ozone	IEA Inferred from Electronic Annotation more info
involved_in response to phenylpropanoid	IEA Inferred from Electronic Annotation more info
involved_in response to reactive oxygen species	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to vitamin A	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin E	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in triglyceride metabolic process	IEA Inferred from Electronic Annotation more info
involved_in ureteric bud development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of catalase complex	IPI Inferred from Physical Interaction more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in focal adhesion	HDA more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in peroxisomal matrix	TAS Traceable Author Statement more info
located_in peroxisomal membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in peroxisome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
located_in peroxisome	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IPI Inferred from Physical Interaction more info	PubMed
located_in 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.