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 r... See more...

Aliases for CAT Gene

Aliases for CAT Gene

  • Catalase 2 3 4 5
  • EC 1.11.1.6 4 54
  • Epididymis Secretory Sperm Binding Protein 3

External Ids for CAT Gene

Previous GeneCards Identifiers for CAT Gene

  • GC11P036013
  • GC11P035138
  • GC11P034499
  • GC11P034424
  • GC11P034417
  • GC11P034157

Summaries for CAT Gene

Entrez Gene Summary for CAT Gene

  • 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]

GeneCards Summary for CAT Gene

CAT (Catalase) is a Protein Coding gene. Diseases associated with CAT include Acatalasemia and Pneumoconiosis. Among its related pathways are Cellular Senescence (REACTOME) and Metabolism of nucleotides. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding.

UniProtKB/Swiss-Prot Summary for CAT Gene

  • 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.

Gene Wiki entry for CAT Gene

Additional gene information for CAT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CAT Gene

Genomics for CAT Gene

GeneHancer (GH) Regulatory Elements for CAT Gene

Promoters and enhancers for CAT Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CAT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CAT gene promoter:
  • FOXO1
  • FOXO1a
  • GR
  • GR-alpha
  • GR-beta
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for CAT Gene

Genomic Locations for CAT Gene
chr11:34,438,925-34,472,060
(GRCh38/hg38)
Size:
33,136 bases
Orientation:
Plus strand
chr11:34,460,472-34,493,609
(GRCh37/hg19)
Size:
33,138 bases
Orientation:
Plus strand

Genomic View for CAT Gene

Genes around CAT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CAT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAT Gene

Proteins for CAT Gene

  • Protein details for CAT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04040-CATA_HUMAN
    Recommended name:
    Catalase
    Protein Accession:
    P04040
    Secondary Accessions:
    • A8K6C0
    • B2RCZ9
    • D3DR07
    • Q2M1U4
    • Q4VXX5
    • Q9BWT9
    • Q9UC85

    Protein attributes for CAT Gene

    Size:
    527 amino acids
    Molecular mass:
    59756 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Cofactor:
    Name=NADP(+); Xref=ChEBI:CHEBI:58349;
    Quaternary structure:
    • Homotetramer.

    Three dimensional structures from OCA and Proteopedia for CAT Gene

neXtProt entry for CAT Gene

Selected DME Specific Peptides for CAT Gene

P04040:
  • RDLFNAIA
  • LQGRLFAY
  • PSWTFYIQVMTF
  • DKMLQGR
  • PERVVHAKG
  • TVGPRGP
  • GESGSADT
  • KRNPQTH
  • DLTKVWPH
  • DNQGGAPNY
  • KFYTEDG
  • GNPVGDKLN
  • GEAVYCKFHYKTDQGIKNL
  • SPDKMLQ
  • FIHSQKR
  • NPFDLTK
  • GAFGYFEVT
  • RHRLGPNYL
  • DNVTQVR
  • WDLVGNNTP
  • NYFAEVEQ
  • KPKNAIHT
  • NGYGSHT
  • GNWDLVGNN
  • DTHRHRLG
  • FEVTHDI
  • PVNCPYR
  • PESLHQV
  • FIQKKAVKNF
  • GSADTVRD
  • RKRLCENIA
  • RVANYQRDGPMC
  • RFSTVAG
  • GFAVKFYT
  • RERIPERVVHA
  • AFDPSNMPPGIE
  • RDPRGFA

Post-translational modifications for CAT Gene

  • The N-terminus is blocked.
  • Glycosylation at Asn244 and Asn481
  • Ubiquitination at Lys243 and Lys480
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for CAT Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains & Families for CAT Gene

Gene Families for CAT Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CAT Gene

GenScript: Design optimal peptide antigens:
  • Catalase (CATA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P04040

UniProtKB/Swiss-Prot:

CATA_HUMAN :
  • Belongs to the catalase family.
Family:
  • Belongs to the catalase family.
genes like me logo Genes that share domains with CAT: view

Function for CAT Gene

Molecular function for CAT Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H2O2 = 2 H2O + O2; Xref=Rhea:RHEA:20309, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240; EC=1.11.1.6; Evidence={ECO:0000255 PROSITE-ProRule:PRU10013, ECO:0000269 PubMed:7882369};.
GENATLAS Biochemistry:
catalase,60kDa,peroxisomal,expressed in erythrocytes,liver,kidney,catabolic pathway of activated oxygen species,free radical detoxification

Enzyme Numbers (IUBMB) for CAT Gene

Phenotypes From GWAS Catalog for CAT Gene

Gene Ontology (GO) - Molecular Function for CAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004046 aminoacylase activity IEA --
GO:0004096 catalase activity IDA,IEA 16644728
GO:0004601 peroxidase activity IEA --
GO:0005102 signaling receptor binding IPI 21976670
GO:0016209 antioxidant activity IDA 10514471
genes like me logo Genes that share ontologies with CAT: view
genes like me logo Genes that share phenotypes with CAT: view

Human Phenotype Ontology for CAT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAT Gene

MGI Knock Outs for CAT:
  • Cat Cat<tm1Ysh>

Animal Model Products

CRISPR Products

miRNA for CAT Gene

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for CAT Gene

Localization for CAT Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAT Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CAT gene
Compartment Confidence
peroxisome 5
cytosol 5
extracellular 4
mitochondrion 4
plasma membrane 3
nucleus 3
endoplasmic reticulum 3
lysosome 3
cytoskeleton 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005758 mitochondrial intermembrane space IEA --
GO:0005764 lysosome IEA --
GO:0005777 peroxisome IDA,IBA 2895531
genes like me logo Genes that share ontologies with CAT: view

Pathways & Interactions for CAT Gene

genes like me logo Genes that share pathways with CAT: view

SIGNOR curated interactions for CAT Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CAT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000302 response to reactive oxygen species IMP 16644728
GO:0001649 osteoblast differentiation HDA 16210410
GO:0001657 ureteric bud development IEA --
GO:0001666 response to hypoxia IEA --
GO:0001822 kidney development IEA --
genes like me logo Genes that share ontologies with CAT: view

Drugs & Compounds for CAT Gene

(83) Drugs for CAT Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fomepizole Approved, Vet_approved Pharma Target, inhibitor 4
Hydrogen peroxide Approved, Vet_approved Pharma Enzyme, substrate 98
Chloramphenicol Approved, Vet_approved Pharma Enzyme, substrate 10
Oxygen Approved, Vet_approved Pharma 0
Calcium carbimide Approved, Withdrawn Pharma Enzyme, substrate 0

(83) Additional Compounds for CAT Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
superoxide
  • (O2)(.-)
  • Dioxide(1-)
  • Hyperoxid
  • Hyperoxide
  • O2(.-)
11062-77-4
Cinnavalininate
  • Cinnabarinic acid
  • Cinnabarinate
  • Cinnavalininic acid
  • 2-amino-3-oxo-3H-Phenoxazin-1,9-dicarboxylic acid
  • 2-amino-3H-Phenoxazin-one-1,9-dicarboxylic acid
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
methanol
  • Carbinol
  • CH3OH
  • MeOH
  • Methyl alcohol
  • Methylalkohol
67-56-1
NADP
  • beta-Nicotinamide adenine dinucleotide phosphate
  • NADP+
  • Nicotinamide adenine dinucleotide phosphate
  • Oxidized nicotinamide-adenine dinucleotide phosphate
  • TPN
53-59-8
genes like me logo Genes that share compounds with CAT: view

Transcripts for CAT Gene

mRNA/cDNA for CAT Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAT Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10 ^ 11a · 11b · 11c ^ 12 ^
SP1: - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - -
SP5: - - -
SP6: - -
SP7: -
SP8: - - - - - -
SP9:
SP10: -
SP11:
SP12: -

ExUns: 13a · 13b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for CAT Gene

GeneLoc Exon Structure for
CAT
ECgene alternative splicing isoforms for
CAT

Expression for CAT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CAT Gene

mRNA differential expression in normal tissues according to GTEx for CAT Gene

This gene is overexpressed in Liver (x5.5) and Whole Blood (x4.3).

Protein differential expression in normal tissues from HIPED for CAT Gene

This gene is overexpressed in Liver, secretome (13.7) and Liver (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CAT Gene



NURSA nuclear receptor signaling pathways regulating expression of CAT Gene:

CAT

SOURCE GeneReport for Unigene cluster for CAT Gene:

Hs.502302

Evidence on tissue expression from TISSUES for CAT Gene

  • Liver(4.9)
  • Nervous system(4.8)
  • Blood(4.7)
  • Kidney(4.7)
  • Eye(4.5)
  • Heart(3.6)
  • Lung(3.4)
  • Muscle(3.2)
  • Skin(3)
  • Adrenal gland(2.8)
  • Bone marrow(2.8)
  • Intestine(2.8)
  • Spleen(2.8)
  • Pancreas(2.7)
  • Stomach(2.7)
  • Thyroid gland(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CAT Gene

Germ Layers:
  • ectoderm
Systems:
  • digestive
Regions:
Head and neck:
  • head
  • mouth
genes like me logo Genes that share expression patterns with CAT: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CAT Gene

Orthologs for CAT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CAT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CAT 33 32
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CAT 33 32
  • 89.75 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CAT 33 32
  • 89.69 (n)
OneToMany
-- 33
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 87 (a)
OneToMany
-- 33
  • 72 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cat 17 33 32
  • 85.9 (n)
rat
(Rattus norvegicus)
Mammalia Cat 32
  • 85.14 (n)
oppossum
(Monodelphis domestica)
Mammalia CAT 33
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves CAT 33 32
  • 81.74 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 83 (a)
OneToMany
-- 33
  • 83 (a)
OneToMany
-- 33
  • 73 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cat.2 32
  • 73.81 (n)
African clawed frog
(Xenopus laevis)
Amphibia cat-prov 32
zebrafish
(Danio rerio)
Actinopterygii cat 33 32 32
  • 72.17 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Cat 33 34 32
  • 63.39 (n)
OneToMany
CG9314 33 34
  • 58 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta CAT1 32
  • 62.46 (n)
worm
(Caenorhabditis elegans)
Secernentea ctl-2 33 32
  • 62.46 (n)
OneToMany
ctl-1 33
  • 62 (a)
OneToMany
Y54G11A.13 34
  • 62 (a)
ctl-3 33
  • 60 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL256W 32
  • 54.42 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D11660g 32
  • 53.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CTA1 35 33 32
  • 53.18 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons CAT1 32
  • 53.57 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7958 32
soybean
(Glycine max)
eudicotyledons Gma.2444 32
rice
(Oryza sativa)
Liliopsida Os03g0131200 32
  • 52.45 (n)
Os.156 32
corn
(Zea mays)
Liliopsida Zm.6357 32
wheat
(Triticum aestivum)
Liliopsida Ta.28032 32
barley
(Hordeum vulgare)
Liliopsida Hv.108 32
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4587 33
  • 66 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ctt1 32
  • 54.44 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05169 32
  • 51.74 (n)
Species where no ortholog for CAT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CAT Gene

ENSEMBL:
Gene Tree for CAT (if available)
TreeFam:
Gene Tree for CAT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CAT: view image

Paralogs for CAT Gene

No data available for Paralogs for CAT Gene

Variants for CAT Gene

Sequence variations from dbSNP and Humsavar for CAT Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1049982 benign, not provided 34,438,994(+) T/C 5_prime_UTR_variant
rs2234940 benign, not provided 34,471,438(+) G/A/C/T 3_prime_UTR_variant
rs704724 benign, not provided 34,464,164(+) C/G/T coding_sequence_variant, missense_variant, synonymous_variant
rs769217 benign, not provided 34,461,361(+) C/T coding_sequence_variant, synonymous_variant
rs1000102164 -- 34,471,758(+) A/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CAT Gene

Variant ID Type Subtype PubMed ID
esv3891963 CNV loss 25118596
nsv553997 CNV loss 21841781
nsv825835 CNV gain 20364138
nsv832114 CNV gain 17160897
nsv951601 CNV duplication 24416366

Variation tolerance for CAT Gene

Residual Variation Intolerance Score: 31.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CAT Gene

Human Gene Mutation Database (HGMD)
CAT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CAT

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAT Gene

Disorders for CAT Gene

MalaCards: The human disease database

(63) MalaCards diseases for CAT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acatalasemia
  • acatalasia
pneumoconiosis
congenital rubella
  • crs
pityriasis versicolor
  • infection by pityrosporum furfur
urogenital tuberculosis
  • genitourinary tuberculosis
- elite association - COSMIC cancer census association via MalaCards
Search CAT in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CATA_HUMAN
  • Acatalasemia (ACATLAS) [MIM:614097]: A metabolic disorder characterized by a total or near total loss of catalase activity in red cells. It is often associated with ulcerating oral lesions. Acatalasemia is inherited as an autosomal recessive trait. {ECO:0000269 PubMed:2308162}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CAT Gene

acatalasia

Additional Disease Information for CAT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CAT: view

Publications for CAT Gene

  1. Gene polymorphisms in association with emerging cardiovascular risk markers in adult women. (PMID: 20078877) Fan AZ … Mokdad AH (BMC medical genetics 2010) 3 23 43 56
  2. Myeloperoxidase and superoxide dismutase 2 polymorphisms comodulate the risk of hepatocellular carcinoma and death in alcoholic cirrhosis. (PMID: 19731237) Nahon P … Beaugrand M (Hepatology (Baltimore, Md.) 2009) 3 23 43 56
  3. Functional variants in the catalase and myeloperoxidase genes, ambient air pollution, and respiratory-related school absences: an example of epistasis in gene-environment interactions. (PMID: 19897513) Wenten M … Gilliland FD (American journal of epidemiology 2009) 3 23 43 56
  4. Ozone, oxidant defense genes, and risk of asthma during adolescence. (PMID: 18048809) Islam T … Gilliland FD (American journal of respiratory and critical care medicine 2008) 3 23 43 56
  5. Detection of catalase as a major protein target of the lipid peroxidation product 4-HNE and the lack of its genetic association as a risk factor in SLE. (PMID: 18606005) D'souza A … Scofield RH (BMC medical genetics 2008) 3 23 43 56

Products for CAT Gene

Sources for CAT Gene