Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 847
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol CAT   Gene   UCSC   Ensembl
Gene name catalase
Alternate names catalase,
Gene location 11p13 (34438924: 34472059)     Exons: 13     NC_000011.10
Gene summary(Entrez) 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]
OMIM 115500

Protein Summary

Protein general information P04040  

Name: Catalase (EC 1.11.1.6)

Length: 527  Mass: 59,756

Sequence MADSRDPASDQMQHWKEQRAAQKADVLTTGAGNPVGDKLNVITVGPRGPLLVQDVVFTDEMAHFDRERIPERVVH
AKGAGAFGYFEVTHDITKYSKAKVFEHIGKKTPIAVRFSTVAGESGSADTVRDPRGFAVKFYTEDGNWDLVGNNT
PIFFIRDPILFPSFIHSQKRNPQTHLKDPDMVWDFWSLRPESLHQVSFLFSDRGIPDGHRHMNGYGSHTFKLVNA
NGEAVYCKFHYKTDQGIKNLSVEDAARLSQEDPDYGIRDLFNAIATGKYPSWTFYIQVMTFNQAETFPFNPFDLT
KVWPHKDYPLIPVGKLVLNRNPVNYFAEVEQIAFDPSNMPPGIEASPDKMLQGRLFAYPDTHRHRLGPNYLHIPV
NCPYRARVANYQRDGPMCMQDNQGGAPNYYPNSFGAPEQQPSALEHSIQYSGEVRRFNTANDDNVTQVRAFYVNV
LNEEQRKRLCENIAGHLKDAQIFIQKKAVKNFTEVHPDYGSHIQALLDKYNAEKPKNAIHTFVQSGSHLAAREKA
NL
Structural information
Interpro:  IPR018028 IPR020835 IPR024708 IPR024711 IPR011614 IPR002226 IPR010582
Prosite:   PS00437 PS00438 PS51402

Pfam:  
PF00199 PF06628

PDB:  
1DGB 1DGF 1DGG 1DGH 1F4J 1QQW
PDBsum:   1DGB 1DGF 1DGG 1DGH 1F4J 1QQW
MINT:   1210583
STRING:   ENSP00000241052;
Other Databases GeneCards:  CAT;  Malacards:  CAT

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000302 response to reactive oxyg
en species
IMP biological_process
GO:0000302 response to reactive oxyg
en species
TAS biological_process
GO:0001649 osteoblast differentiatio
n
IDA biological_process
GO:0001657 ureteric bud development
IEA biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0004046 aminoacylase activity
IEA molecular_function
GO:0004096 catalase activity
IDA molecular_function
GO:0004096 catalase activity
IDA molecular_function
GO:0004096 catalase activity
IDA molecular_function
GO:0004096 catalase activity
TAS molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005615 extracellular space
IEA cellular_component
GO:0005739 mitochondrion
IBA cellular_component
GO:0005758 mitochondrial intermembra
ne space
IEA cellular_component
GO:0005764 lysosome
IEA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005778 peroxisomal membrane
ISS cellular_component
GO:0005782 peroxisomal matrix
TAS cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006195 purine nucleotide catabol
ic process
TAS biological_process
GO:0006641 triglyceride metabolic pr
ocess
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0008203 cholesterol metabolic pro
cess
IEA biological_process
GO:0009060 aerobic respiration
IEA biological_process
GO:0009642 response to light intensi
ty
IEA biological_process
GO:0009650 UV protection
IMP biological_process
GO:0009650 UV protection
IMP biological_process
GO:0010193 response to ozone
IEA biological_process
GO:0010288 response to lead ion
IEA biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
IEA biological_process
GO:0014823 response to activity
IEA biological_process
GO:0014854 response to inactivity
IEA biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016209 antioxidant activity
IDA molecular_function
GO:0016684 oxidoreductase activity,
acting on peroxide as acc
eptor
ISS molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0020027 hemoglobin metabolic proc
ess
IEA biological_process
GO:0020037 heme binding
IDA molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0032088 negative regulation of NF
-kappaB transcription fac
tor activity
IEA biological_process
GO:0032355 response to estradiol
IEA biological_process
GO:0032868 response to insulin
IEA biological_process
GO:0033189 response to vitamin A
IEA biological_process
GO:0033197 response to vitamin E
IEA biological_process
GO:0033591 response to L-ascorbic ac
id
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042542 response to hydrogen pero
xide
IBA biological_process
GO:0042744 hydrogen peroxide catabol
ic process
IDA biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0045471 response to ethanol
IEA biological_process
GO:0046686 response to cadmium ion
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0050661 NADP binding
IDA molecular_function
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IEA biological_process
GO:0051262 protein tetramerization
IDA biological_process
GO:0051262 protein tetramerization
IDA biological_process
GO:0051289 protein homotetramerizati
on
IDA biological_process
GO:0051781 positive regulation of ce
ll division
IEA biological_process
GO:0055093 response to hyperoxia
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070542 response to fatty acid
IEA biological_process
GO:0071363 cellular response to grow
th factor stimulus
IEA biological_process
GO:0080184 response to phenylpropano
id
IEA biological_process
GO:0098869 cellular oxidant detoxifi
cation
IEA biological_process
GO:0000302 response to reactive oxyg
en species
IEA biological_process
GO:0000302 response to reactive oxyg
en species
IMP biological_process
GO:0000302 response to reactive oxyg
en species
TAS biological_process
GO:0001649 osteoblast differentiatio
n
IDA biological_process
GO:0001657 ureteric bud development
IEA biological_process
GO:0001666 response to hypoxia
IEA biological_process
GO:0001822 kidney development
IEA biological_process
GO:0004046 aminoacylase activity
IEA molecular_function
GO:0004096 catalase activity
IEA molecular_function
GO:0004096 catalase activity
IEA molecular_function
GO:0004096 catalase activity
IEA molecular_function
GO:0004096 catalase activity
IDA molecular_function
GO:0004096 catalase activity
IDA molecular_function
GO:0004096 catalase activity
IDA molecular_function
GO:0004096 catalase activity
TAS molecular_function
GO:0004601 peroxidase activity
IEA molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005615 extracellular space
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IBA cellular_component
GO:0005758 mitochondrial intermembra
ne space
IEA cellular_component
GO:0005764 lysosome
IEA cellular_component
GO:0005777 peroxisome
IEA cellular_component
GO:0005777 peroxisome
IEA cellular_component
GO:0005777 peroxisome
IEA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005778 peroxisomal membrane
IEA cellular_component
GO:0005778 peroxisomal membrane
ISS cellular_component
GO:0005782 peroxisomal matrix
TAS cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005794 Golgi apparatus
IEA cellular_component
GO:0005829 cytosol
IEA cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006195 purine nucleotide catabol
ic process
TAS biological_process
GO:0006641 triglyceride metabolic pr
ocess
IEA biological_process
GO:0006979 response to oxidative str
ess
IEA biological_process
GO:0006979 response to oxidative str
ess
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0008203 cholesterol metabolic pro
cess
IEA biological_process
GO:0009060 aerobic respiration
IEA biological_process
GO:0009314 response to radiation
IEA biological_process
GO:0009411 response to UV
IEA biological_process
GO:0009636 response to toxic substan
ce
IEA biological_process
GO:0009642 response to light intensi
ty
IEA biological_process
GO:0009650 UV protection
IMP biological_process
GO:0009650 UV protection
IMP biological_process
GO:0010193 response to ozone
IEA biological_process
GO:0010288 response to lead ion
IEA biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
IEA biological_process
GO:0014823 response to activity
IEA biological_process
GO:0014854 response to inactivity
IEA biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016209 antioxidant activity
IDA molecular_function
GO:0016491 oxidoreductase activity
IEA molecular_function
GO:0016684 oxidoreductase activity,
acting on peroxide as acc
eptor
IEA molecular_function
GO:0016684 oxidoreductase activity,
acting on peroxide as acc
eptor
ISS molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0020027 hemoglobin metabolic proc
ess
IEA biological_process
GO:0020037 heme binding
IEA molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0032088 negative regulation of NF
-kappaB transcription fac
tor activity
IEA biological_process
GO:0032355 response to estradiol
IEA biological_process
GO:0032868 response to insulin
IEA biological_process
GO:0033189 response to vitamin A
IEA biological_process
GO:0033197 response to vitamin E
IEA biological_process
GO:0033591 response to L-ascorbic ac
id
IEA biological_process
GO:0042493 response to drug
IEA biological_process
GO:0042542 response to hydrogen pero
xide
IBA biological_process
GO:0042744 hydrogen peroxide catabol
ic process
IEA biological_process
GO:0042744 hydrogen peroxide catabol
ic process
IEA biological_process
GO:0042744 hydrogen peroxide catabol
ic process
IDA biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0043066 negative regulation of ap
optotic process
IEA biological_process
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0045471 response to ethanol
IEA biological_process
GO:0046686 response to cadmium ion
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0050661 NADP binding
IDA molecular_function
GO:0051092 positive regulation of NF
-kappaB transcription fac
tor activity
IEA biological_process
GO:0051262 protein tetramerization
IDA biological_process
GO:0051262 protein tetramerization
IDA biological_process
GO:0051289 protein homotetramerizati
on
IDA biological_process
GO:0051781 positive regulation of ce
ll division
IEA biological_process
GO:0055093 response to hyperoxia
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070542 response to fatty acid
IEA biological_process
GO:0071363 cellular response to grow
th factor stimulus
IEA biological_process
GO:0080184 response to phenylpropano
id
IEA biological_process
GO:0098869 cellular oxidant detoxifi
cation
IEA biological_process
GO:0000302 response to reactive oxyg
en species
IMP biological_process
GO:0000302 response to reactive oxyg
en species
TAS biological_process
GO:0001649 osteoblast differentiatio
n
IDA biological_process
GO:0004096 catalase activity
IDA molecular_function
GO:0004096 catalase activity
IDA molecular_function
GO:0004096 catalase activity
IDA molecular_function
GO:0004096 catalase activity
TAS molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005102 receptor binding
IPI molecular_function
GO:0005739 mitochondrion
IBA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005777 peroxisome
IDA cellular_component
GO:0005778 peroxisomal membrane
ISS cellular_component
GO:0005782 peroxisomal matrix
TAS cellular_component
GO:0005925 focal adhesion
IDA cellular_component
GO:0006195 purine nucleotide catabol
ic process
TAS biological_process
GO:0009650 UV protection
IMP biological_process
GO:0009650 UV protection
IMP biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016209 antioxidant activity
IDA molecular_function
GO:0016684 oxidoreductase activity,
acting on peroxide as acc
eptor
ISS molecular_function
GO:0019899 enzyme binding
IPI molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0020037 heme binding
IDA molecular_function
GO:0042542 response to hydrogen pero
xide
IBA biological_process
GO:0042744 hydrogen peroxide catabol
ic process
IDA biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0043066 negative regulation of ap
optotic process
IMP biological_process
GO:0043231 intracellular membrane-bo
unded organelle
IDA cellular_component
GO:0050661 NADP binding
IDA molecular_function
GO:0051262 protein tetramerization
IDA biological_process
GO:0051262 protein tetramerization
IDA biological_process
GO:0051289 protein homotetramerizati
on
IDA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa04068  FoxO signaling pathway
hsa04211  Longevity regulating pathway
hsa04213  Longevity regulating pathway
hsa01200  Carbon metabolism
hsa05014  Amyotrophic lateral sclerosis
hsa04146  Peroxisome
hsa00380  Tryptophan metabolism
hsa00630  Glyoxylate and dicarboxylate metabolism
PTHR22589:SF14  Nicotinic acetylcholine receptor signaling pathway
PTHR22589:SF14  Muscarinic acetylcholine receptor 1 and 3 signaling pathway
PTHR22589:SF14  Muscarinic acetylcholine receptor 2 and 4 signaling pathway

Diseases

Associated diseases References
Acatalasemia OMIM: 115500
Adenomyosis PMID: 12372460
Alzheimer's disease PMID: 12231449
Asthma PMID: 16385446
Cancer PMID: 17634480
Diabetes PMID: 12469627
Diabetes PMID: 17264407
Diabetic neuropathy PMID: 15125229
Endometriosis PMID: 12372460
Gastric disease PMID: 17549373
Hearing loss PMID: 17567781
Hypertension PMID: 11479740
Macular degeneration PMID: 15774926
Male infertility PMID: 26198800
Pancreatitis PMID: 15131792
Preeclampsia PMID: 19399816
Adenomyosis INFBASE12372460
Endometriosis INFBASE12372460
Varicocele PMID: 22086312
Vitiligo PMID: 11837458

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
12372460 Endometrio
sis

116 (33 patient
s with endometr
iosis, 36 with
adenomyosis, 47
fertile contro
ls)
Catalase
Show abstract