Human Gene CAT (ENST00000241052.5) from GENCODE V44
  Description: Homo sapiens catalase (CAT), mRNA. (from RefSeq NM_001752)
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].
Gencode Transcript: ENST00000241052.5
Gencode Gene: ENSG00000121691.7
Transcript (Including UTRs)
   Position: hg38 chr11:34,438,934-34,472,060 Size: 33,127 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg38 chr11:34,439,014-34,471,433 Size: 32,420 Coding Exon Count: 13 

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RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:34,438,934-34,472,060)mRNA (may differ from genome)Protein (527 aa)
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GeneCardsHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  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/";

-  Primer design for this transcript
 

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Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CAT
Diseases sorted by gene-association score: acatalasemia* (1398), pityriasis versicolor (25), pneumoconiosis (25), meningitis and encephalitis (18), urogenital tuberculosis (18), congenital rubella (18), refsum disease (11), favism (10), chronic granulomatous disease (10), avascular necrosis of the femoral head (9), diabetic angiopathy (9), toxic optic neuropathy (8), myeloperoxidase deficiency (8), tympanosclerosis (8), vitiligo-associated multiple autoimmune disease susceptibility 1 (8), gonadoblastoma (7), aniridia (7), wilson disease (7), hypermethioninemia (7), renovascular hypertension (7), retinal ischemia (7), neonatal adrenoleukodystrophy (7), peroxisome biogenesis disorder 1b (7), acne (6), microcytic anemia (6), cryptosporidiosis (6), myocardial stunning (6), d-bifunctional protein deficiency (6), bacteriuria (6), peroxisome disorders (5), spermatic cord torsion (5), peroxisomal biogenesis disorders (5), asbestosis (5), peroxisomal acyl-coa oxidase deficiency (5), hyperphenylalaninemia (5), type 1 diabetes mellitus 10 (5), breast abscess (4), valproate embryopathy, susceptibility to (4), rhizomelic chondrodysplasia punctata, type 2 (4), deficiency anemia (3), alzheimer disease (3), lateral sclerosis (3), vascular disease (2), breast disease (2), asthma (2), oral cavity cancer (2), diabetes mellitus, insulin-dependent (1), parkinson disease, late-onset (1), tetralogy of fallot (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 116.24 RPKM in Liver
Total median expression: 1493.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.4080-0.305 Picture PostScript Text
3' UTR -137.00627-0.219 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018028 - Catalase
IPR020835 - Catalase-like_dom
IPR024708 - Catalase_AS
IPR024711 - Catalase_clade1/3
IPR011614 - Catalase_core
IPR002226 - Catalase_haem_BS
IPR010582 - Catalase_immune_responsive

Pfam Domains:
PF00199 - Catalase
PF06628 - Catalase-related immune-responsive

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1DGB - X-ray 1DGF - X-ray 1DGG - X-ray 1DGH - X-ray 1F4J - X-ray 1QQW - X-ray


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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
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Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
AlignmentAlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004046 aminoacylase activity
GO:0004096 catalase activity
GO:0004601 peroxidase activity
GO:0005102 receptor binding
GO:0016209 antioxidant activity
GO:0016491 oxidoreductase activity
GO:0016684 oxidoreductase activity, acting on peroxide as acceptor
GO:0019899 enzyme binding
GO:0020037 heme binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
GO:0050661 NADP binding

Biological Process:
GO:0000302 response to reactive oxygen species
GO:0001649 osteoblast differentiation
GO:0001657 ureteric bud development
GO:0001666 response to hypoxia
GO:0001822 kidney development
GO:0006625 protein targeting to peroxisome
GO:0006641 triglyceride metabolic process
GO:0006979 response to oxidative stress
GO:0007568 aging
GO:0008203 cholesterol metabolic process
GO:0009060 aerobic respiration
GO:0009314 response to radiation
GO:0009411 response to UV
GO:0009636 response to toxic substance
GO:0009642 response to light intensity
GO:0009650 UV protection
GO:0010193 response to ozone
GO:0010288 response to lead ion
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0014823 response to activity
GO:0014854 response to inactivity
GO:0020027 hemoglobin metabolic process
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0032355 response to estradiol
GO:0032868 response to insulin
GO:0033189 response to vitamin A
GO:0033197 response to vitamin E
GO:0033591 response to L-ascorbic acid
GO:0034599 cellular response to oxidative stress
GO:0042493 response to drug
GO:0042542 response to hydrogen peroxide
GO:0042744 hydrogen peroxide catabolic process
GO:0043066 negative regulation of apoptotic process
GO:0043312 neutrophil degranulation
GO:0045471 response to ethanol
GO:0046686 response to cadmium ion
GO:0051092 positive regulation of NF-kappaB transcription factor activity
GO:0051262 protein tetramerization
GO:0051289 protein homotetramerization
GO:0051781 positive regulation of cell division
GO:0055093 response to hyperoxia
GO:0055114 oxidation-reduction process
GO:0070542 response to fatty acid
GO:0071363 cellular response to growth factor stimulus
GO:0080184 response to phenylpropanoid
GO:0098869 cellular oxidant detoxification

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005764 lysosome
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005782 peroxisomal matrix
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0034774 secretory granule lumen
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  KJ890831 - Synthetic construct Homo sapiens clone ccsbBroadEn_00225 CAT gene, encodes complete protein.
KR711567 - Synthetic construct Homo sapiens clone CCSBHm_00026863 CAT (CAT) mRNA, encodes complete protein.
KR711568 - Synthetic construct Homo sapiens clone CCSBHm_00026864 CAT (CAT) mRNA, encodes complete protein.
KR711569 - Synthetic construct Homo sapiens clone CCSBHm_00026865 CAT (CAT) mRNA, encodes complete protein.
LF205797 - JP 2014500723-A/13300: Polycomb-Associated Non-Coding RNAs.
MA441374 - JP 2018138019-A/13300: Polycomb-Associated Non-Coding RNAs.
X04076 - Human kidney mRNA for catalase.
BC027300 - Homo sapiens, Similar to catalase, clone IMAGE:3924219, mRNA, partial cds.
AK291585 - Homo sapiens cDNA FLJ78138 complete cds, highly similar to Homo sapiens catalase (CAT), mRNA.
BC110398 - Homo sapiens catalase, mRNA (cDNA clone MGC:117400 IMAGE:5551309), complete cds.
AK315350 - Homo sapiens cDNA, FLJ96395, highly similar to Homo sapiens catalase (CAT), mRNA.
BC112217 - Homo sapiens catalase, mRNA (cDNA clone MGC:138422 IMAGE:8327685), complete cds.
BC112219 - Homo sapiens catalase, mRNA (cDNA clone MGC:138424 IMAGE:8327687), complete cds.
GQ891493 - Homo sapiens clone HEL-S-214 epididymis secretory sperm binding protein mRNA, complete cds.
LF348344 - JP 2014500723-A/155847: Polycomb-Associated Non-Coding RNAs.
MA583921 - JP 2018138019-A/155847: Polycomb-Associated Non-Coding RNAs.
AB587573 - Synthetic construct DNA, clone: pF1KE1962, Homo sapiens CAT gene for catalase, without stop codon, in Flexi system.
E01497 - cDNA encoding human catalase.
HQ258304 - Synthetic construct Homo sapiens clone IMAGE:100072613 catalase (CAT) gene, encodes complete protein.
AY028632 - Homo sapiens catalase (CAT) mRNA, complete cds.
AK301577 - Homo sapiens cDNA FLJ60361 complete cds, highly similar to Catalase (EC 1.11.1.6).
AK310184 - Homo sapiens cDNA, FLJ17226.
JD026241 - Sequence 7265 from Patent EP1572962.
JD019536 - Sequence 560 from Patent EP1572962.
JD030140 - Sequence 11164 from Patent EP1572962.
LF348339 - JP 2014500723-A/155842: Polycomb-Associated Non-Coding RNAs.
MA583916 - JP 2018138019-A/155842: Polycomb-Associated Non-Coding RNAs.
LF348337 - JP 2014500723-A/155840: Polycomb-Associated Non-Coding RNAs.
MA583914 - JP 2018138019-A/155840: Polycomb-Associated Non-Coding RNAs.
CS121466 - Sequence 1 from Patent WO2005056048.
AK022134 - Homo sapiens cDNA FLJ12072 fis, clone HEMBB1002371.
LF348330 - JP 2014500723-A/155833: Polycomb-Associated Non-Coding RNAs.
MA583907 - JP 2018138019-A/155833: Polycomb-Associated Non-Coding RNAs.
LF348329 - JP 2014500723-A/155832: Polycomb-Associated Non-Coding RNAs.
MA583906 - JP 2018138019-A/155832: Polycomb-Associated Non-Coding RNAs.
LQ021078 - Sequence 21 from Patent WO2015144924.
CS121468 - Sequence 3 from Patent WO2005056048.
JD020498 - Sequence 1522 from Patent EP1572962.
JD028368 - Sequence 9392 from Patent EP1572962.
JD197232 - Sequence 178256 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00380 - Tryptophan metabolism
hsa00680 - Methane metabolism
hsa01100 - Metabolic pathways
hsa04146 - Peroxisome
hsa05014 - Amyotrophic lateral sclerosis (ALS)

BioCyc Knowledge Library
DETOX1-PWY - superoxide radicals degradation
DETOX1-PWY-1 - reactive oxygen species degradation
PWY66-162 - ethanol degradation IV

Reactome (by CSHL, EBI, and GO)

Protein P04040 (Reactome details) participates in the following event(s):

R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-9033233 PEX5S,L binds cargo proteins containing PTS1
R-HSA-9033236 PEX5S,L:Cargo binds PEX13:PEX14 of PEX13:PEX14:PEX2:PEX10:PEX12 (Docking and Translocation Complex)
R-HSA-76031 2 H2O2 => O2 + 2 H2O
R-HSA-9033241 Peroxisomal protein import
R-HSA-6798695 Neutrophil degranulation
R-HSA-392499 Metabolism of proteins
R-HSA-168249 Innate Immune System
R-HSA-3299685 Detoxification of Reactive Oxygen Species
R-HSA-168256 Immune System
R-HSA-2262752 Cellular responses to stress
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: A8K6C0, B2RCZ9, CATA_HUMAN, D3DR07, ENST00000241052.1, ENST00000241052.2, ENST00000241052.3, ENST00000241052.4, NM_001752, P04040, Q2M1U4, Q4VXX5, Q9BWT9, Q9UC85, uc001mvm.1, uc001mvm.2, uc001mvm.3, uc001mvm.4, uc001mvm.5
UCSC ID: ENST00000241052.5
RefSeq Accession: NM_001752
Protein: P04040 (aka CATA_HUMAN)
CCDS: CCDS7891.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.