ENSG00000121691


Homo sapiens

Features
Gene ID: ENSG00000121691
  
Biological name :CAT
  
Synonyms : CAT / catalase / P04040
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: 1
Band: p13
Gene start: 34438925
Gene end: 34472062
  
Corresponding Affymetrix probe sets: 201432_at (Human Genome U133 Plus 2.0 Array)   211922_s_at (Human Genome U133 Plus 2.0 Array)   215573_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000241052
NCBI entrez gene - 847     See in Manteia.
OMIM - 115500
RefSeq - NM_001752
RefSeq Peptide - NP_001743
swissprot - P04040
Ensembl - ENSG00000121691
  
Related genetic diseases (OMIM): 614097 - Acatalasemia, 614097
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 catENSDARG00000104702Danio rerio
 CATENSGALG00000030187Gallus gallus
 CatENSMUSG00000027187Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR002226  Catalase haem-binding site
 IPR010582  Catalase immune-responsive domain
 IPR011614  Catalase core domain
 IPR018028  Catalase, mono-functional, haem-containing
 IPR020835  Catalase superfamily
 IPR024708  Catalase active site
 IPR024711  Catalase, mono-functional, haem-containing, clades 1 and 3
 IPR037060  Catalase core domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000302 response to reactive oxygen species IEA
 biological_processGO:0001649 osteoblast differentiation HDA
 biological_processGO:0001657 ureteric bud development IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0006641 triglyceride metabolic process IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0009060 aerobic respiration IEA
 biological_processGO:0009314 response to radiation IEA
 biological_processGO:0009411 response to UV IEA
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0009642 response to light intensity IEA
 biological_processGO:0009650 UV protection IMP
 biological_processGO:0010193 response to ozone IEA
 biological_processGO:0010288 response to lead ion IEA
 biological_processGO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling IEA
 biological_processGO:0014823 response to activity IEA
 biological_processGO:0014854 response to inactivity IEA
 biological_processGO:0020027 hemoglobin metabolic process IEA
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0032868 response to insulin IEA
 biological_processGO:0033189 response to vitamin A IEA
 biological_processGO:0033197 response to vitamin E IEA
 biological_processGO:0033591 response to L-ascorbic acid IEA
 biological_processGO:0034599 cellular response to oxidative stress TAS
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042542 response to hydrogen peroxide IBA
 biological_processGO:0042744 hydrogen peroxide catabolic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0046686 response to cadmium ion IEA
 biological_processGO:0051092 positive regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:0051262 protein tetramerization IDA
 biological_processGO:0051289 protein homotetramerization IDA
 biological_processGO:0051781 positive regulation of cell division IEA
 biological_processGO:0055093 response to hyperoxia IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0070542 response to fatty acid IEA
 biological_processGO:0071363 cellular response to growth factor stimulus IEA
 biological_processGO:0080184 response to phenylpropanoid IEA
 biological_processGO:0098869 cellular oxidant detoxification IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005758 mitochondrial intermembrane space IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005777 peroxisome IEA
 cellular_componentGO:0005778 peroxisomal membrane IEA
 cellular_componentGO:0005782 peroxisomal matrix TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0034774 secretory granule lumen TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1904813 ficolin-1-rich granule lumen TAS
 molecular_functionGO:0004046 aminoacylase activity IEA
 molecular_functionGO:0004096 catalase activity TAS
 molecular_functionGO:0004601 peroxidase activity IEA
 molecular_functionGO:0005102 signaling receptor binding IPI
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016209 antioxidant activity IDA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016684 oxidoreductase activity, acting on peroxide as acceptor IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0020037 heme binding IDA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0050661 NADP binding IDA


Pathways (from Reactome)
Pathway description
Detoxification of Reactive Oxygen Species
Neutrophil degranulation
Peroxisomal protein import


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000155 Oral ulcers 
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 HP:0012517 Reduced catalase activity "An abnormally decreased amount of `catalase activity` (GO:0004096)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000121691 CAT / P04040 / catalase  / complex






 

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