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Set Analyses:

VarElect

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CAT Gene

protein-coding GIFtS: 73
GCID: GC11P034460

Catalase

Microbiology & Infectious Diseases Congress

See related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
catalase¹ ²
EC 1.11.1.6³ ⁸

External Ids:	HGNC: 1516¹	Entrez Gene: 847²	Ensembl: ENSG00000121691⁷	OMIM: 115500⁵	UniProtKB: P04040³

Export aliases for CAT gene to outside databases

Previous GC identifers: GC11P036013 GC11P035138 GC11P034499 GC11P034424 GC11P034417 GC11P034157

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pityriasis versicolor, and acatalasia. GO annotations related to this gene include enzyme binding and protein homodimerization activity.

UniProtKB/Swiss-Prot: CATA_HUMAN, P04040

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

Gene Wiki entry for CAT (Catalase) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000011.10 NC_018922.2 NT_009237.19

Regulatory elements:

Regulatory transcription factor binding sites in the CAT gene promoter:
GR GR-beta FOXO1a GR-alpha NF-kappaB NF-kappaB1 FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CAT promoter sequence

Search Chromatin IP Primers for CAT

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CAT

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p13 Ensembl cytogenetic band: 11p13 HGNC cytogenetic band: 11p13

CAT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CAT gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P034460: view genomic region (about GC identifiers)

Start:	34,460,472 bp from pter	End:	34,493,609 bp from pter
Size:	33,138 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CATA_HUMAN, P04040 (See protein sequence)

Recommended Name: Catalase

Size: 527 amino acids; 59756 Da

Cofactor: Heme group

Cofactor: NADP

Subunit: Homotetramer

6 PDB 3D structures from and Proteopedia for CAT:

1DGB (3D)

1DGF (3D)

1DGG (3D)

1DGH (3D)

1F4J (3D)

1QQW (3D)

Secondary accessions: A8K6C0 B2RCZ9 D3DR07 Q2M1U4 Q4VXX5 Q9BWT9 Q9UC85

Explore the universe of human proteins at neXtProt for CAT: NX_P04040

Explore proteomics data for CAT at MOPED

Post-translational modifications:

The N-terminus is blocked¹

Ubiquitination² at Lys243, Lys480

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for CAT (P04040) (see all 37)

DKMLQGR

TVGPRGP

KRNPQTH

KFYTEDG

See CAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001743.1

ENSEMBL proteins:

ENSP00000241052

Reactome Protein details: P04040

CAT Human Recombinant Protein Products:

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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein for CAT OriGene Protein Over-expression Lysate for CAT OriGene MassSpec for CAT OriGene Custom Protein Services for CAT
	GenScript Custom Purified and Recombinant Proteins Services for CAT
	Novus Biologicals CAT Proteins Novus Biologicals CAT Lysates
	Sino Biological Recombinant Protein for CAT Sino Biological Cell Lysate for CAT
	ProSpec Recombinant Protein for CAT
	Cloud-Clone Corp. Proteins for CAT

CAT Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for CAT (Catalase)
	Cell Signaling Technology (CST) Antibodies for CAT (catalase)
	OriGene Antibodies for CAT OriGene Custom Antibody Services for CAT
	Novus Biologicals CAT Antibodies
	Abcam antibodies for CAT (Q2M1U4, P04040)
	Cloud-Clone Corp. Antibodies for CAT
	ThermoFisher Antibody for CAT
	LSBio Antibodies in human, mouse, rat for CAT

CAT Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for CAT
	R&D Systems Proteome Profiler Antibody Arrays for CAT (Catalase)
	GenScript Custom Assay Services for CAT
	Enzo Life Sciences assays for CAT
	Cloud-Clone Corp. ELISAs for CAT Cloud-Clone Corp. CLIAs for CAT

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 7):

IPR018028 Catalase

IPR020835 Catalase-like_dom

IPR002226 Catalase_haem_BS

IPR011614 Catalase_core

IPR010582 Catalase_immune_responsive

Graphical View of Domain Structure for InterPro Entry P04040

ProtoNet protein and cluster: P04040

1 Blocks protein domain: IPB002226 Catalase

UniProtKB/Swiss-Prot: CATA_HUMAN, P04040

Similarity: Belongs to the catalase family

CAT for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: CATA_HUMAN, P04040

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

Genatlas biochemistry entry for CAT:

catalase,60kDa,peroxisomal,expressed in erythrocytes,liver,kidney,catabolic pathway of activated oxygen

species,free radical detoxification

Enzyme Number (IUBMB): EC 1.11.1.6¹ ²

Gene Ontology (GO): Selected molecular function terms (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004046	aminoacylase activity	IEA	--
GO:0004096	catalase activity	TAS	--
GO:0005102	receptor binding	IPI	--
GO:0016209	antioxidant activity	IDA	10514471
GO:0016684	oxidoreductase activity, acting on peroxide as acceptor	ISS	--

CAT for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for CAT:

Increased cell death HMECs cel

Increased cell death in breast

4 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Cat):

cellular

homeostasis/metabolism

mortality/aging

tumorigenesis

CAT for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Cat^tm1Ysh for CAT

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CAT

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CAT

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CAT

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CAT

miRNA Products:		miRTarBase miRNAs that target CAT: hsa-mir-30a-5p (MIRT028614), hsa-mir-155-5p (MIRT020866), hsa-mir-30b-5p (MIRT007067), hsa-mir-181b-5p (MIRT047237)

		Block miRNA regulation of human, mouse, rat CAT using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate CAT (see all 9):
		hsa-miR-30c hsa-miR-520d-5p hsa-miR-30d hsa-miR-190b hsa-miR-30a hsa-miR-30b hsa-miR-524-5p hsa-miR-30e

		SwitchGear 3'UTR luciferase reporter plasmid: CAT 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for CAT
		Predesigned siRNA for gene silencing in human, mouse, rat CAT

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CAT

Clone Products:		OriGene clones in human, mouse for CAT (see all 7) OriGene ORF clones in mouse, rat for CAT OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CAT (NM_000019)
		Sino Biological Human cDNA Clone for CAT
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAT
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAT

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CAT
		Browse ESI BIO Cell Lines and PureStem Progenitors for CAT

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAT

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

CATA_HUMAN, P04040: Peroxisome

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
peroxisome	5
cytosol	3
extracellular	3
mitochondrion	3
nucleus	3
plasma membrane	3
chloroplast	2
cytoskeleton	2
endoplasmic reticulum	2
golgi apparatus	2
lysosome	2
vacuole	2
endosome	1

About this image

Gene Ontology (GO): Selected cellular component terms (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005758	mitochondrial intermembrane space	IEA	--
GO:0005764	lysosome	IEA	--
GO:0005777	peroxisome	IDA	18379038
GO:0005778	peroxisomal membrane	ISS	--

CAT for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for CAT About (see all 18)

See pathways by source

SuperPath

Contained pathways About

Amyotrophic lateral sclerosis (ALS)

Amyotrophic lateral sclerosis (ALS)

0.63

Amyotrophic lateral sclerosis (ALS)

0.63

Tryptophan metabolism

Tryptophan metabolism

0.46

Tryptophan metabolism

0.46

Detoxification of Reactive Oxygen Species

Detoxification of Reactive Oxygen Species

Oxidative Stress Regulatory Pathway (Erythrocyte)

0.00

Purine metabolism (REACTOME)

	Purine metabolism	0.42			Purine catabolism	0.00
	Metabolism of nucleotides	0.42

Doxorubicin Pathway, Pharmacokinetics

Doxorubicin Pathway (Cancer Cell), Pharmacodynamics

0.43

Doxorubicin Pathway, Pharmacokinetics

0.43

Pathways by source See SuperPaths
Show all pathways

1 Cell Signaling Technology (CST) Pathway for CAT

Glucose / Energy Metabolism

Selected BioSystems Pathways for CAT (see all 9)

	DNA damage response (only ATM dependent)
	Oxidative Stress
	Amyotrophic lateral sclerosis (ALS)
	ethanol degradation IV
	Folate Metabolism

2 Reactome Pathways for CAT

	Detoxification of Reactive Oxygen Species
	Purine catabolism

3 PharmGKB Pathways for CAT

	Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
	Doxorubicin Pathway, Pharmacokinetics
	Oxidative Stress Regulatory Pathway (Erythrocyte)

5 Kegg Pathways (Kegg details for CAT):

	Tryptophan metabolism
	Glyoxylate and dicarboxylate metabolism
	FoxO signaling pathway
	Peroxisome
	Amyotrophic lateral sclerosis (ALS)

CAT for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including CAT (see all 6):

Nephrotoxicity in human mouse rat

Amino Acid Metabolism I in human mouse rat

Oxidative Stress in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

Cellular Stress Responses in human mouse rat

Interactions:

GeneGlobe Interaction Network for CAT

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for CAT (P04040^{2, 3} ENSP00000241052⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 108)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTPN11	Q06124²^,³, ENSP00000340944⁴	MINT-50693 MINT-50695 MINT-50694 I2D: score=4 STRING: ENSP00000340944
ABL2	P42684³, ENSP00000356595⁴	I2D: score=2 STRING: ENSP00000356595
EIF2B2	P49770³, ENSP00000266126⁴	I2D: score=2 STRING: ENSP00000266126
TLR10	Q9BXR5³, ENSP00000308925⁴	I2D: score=2 STRING: ENSP00000308925
ABL1	P00519³, ENSP00000361423⁴	I2D: score=1 STRING: ENSP00000361423

About this table

Gene Ontology (GO): Selected biological process terms (see all 28): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000302	response to reactive oxygen species	IMP	16644728
GO:0001657	ureteric bud development	IEA	--
GO:0001666	response to hypoxia	IEA	--
GO:0001822	kidney development	IEA	--
GO:0006144	purine nucleobase metabolic process	TAS	--

CAT for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for CAT (CATA)

Selected HMDB Compounds for CAT (see all 11) About this table

Compound	Synonyms	CAS #	PubMed Ids
3-Hydroxyanthranilic acid	2-Amino-3-hydroxybenzoate (see all 17)	548-93-6	--
Cinnavalininate	Cinnabarinic acid (see all 4)	--	--
Formaldehyde	Aldeide formica (see all 16)	50-00-0	--
Heme	(protoporphyrinato)iron (see all 19)	14875-96-8	--
Hydrogen peroxide	Hydrogen peroxide (see all 44)	7722-84-1	--
Manganese	manganese	7439-96-5	--
Methanol	Alcool methylique (see all 23)	67-56-1	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
Oxygen	Oxygen (see all 5)	7782-44-7	--
Superoxide	dioxidanidyl (see all 7)	11062-77-4	--

2 DrugBank Compounds for CAT About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Fomepizole	4-methylpyrazole (see all 4)	7554-65-6	target	inhibitor	8423764 3416882 240743
Heme	--	--	target	--	17139284 17016423 10592235

Selected Novoseek inferred chemical compound relationships for CAT gene (see all 146) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
superoxide	96.5	4472	2313035 (6), 17240813 (5), 20016428 (5), 7551811 (5) (see all 99)
h2o2	94.6	1885	9389716 (6), 2066646 (5), 8151246 (5), 7541472 (5) (see all 99)
oxygen	89.4	716	10628300 (7), 8720898 (4), 11368853 (4), 8082230 (3) (see all 99)
3-amino-1,2,4-triazole	88.1	229	11829410 (3), 12681527 (3), 1540380 (3), 8264727 (2) (see all 99)
malondialdehyde	87.7	1211	18778500 (5), 17319275 (5), 17190187 (5), 16112416 (4) (see all 99)
bathocuproine	87.6	60	1846358 (1), 10547184 (1), 11714440 (1), 12016160 (1) (see all 59)
ascorbic acid	83.7	611	10525278 (6), 15109571 (6), 17319275 (5), 17190187 (5) (see all 99)
xanthine	82.1	164	16130269 (3), 16112416 (2), 17571208 (2), 8710749 (2) (see all 99)
n acetylcysteine	81.8	324	11440976 (4), 9437207 (3), 16984740 (3), 15667587 (3) (see all 99)
deferoxamine	81.3	167	11316574 (3), 1647676 (3), 1958348 (2), 7672482 (2) (see all 99)

1 PharmGKB related drug/compound annotation for CAT gene About this table

Drug/compound	PharmGKB Annotation
anthracyclines and related substances	CA

CAT for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CAT gene:

NM_001752.3

Unigene Cluster for CAT:

Catalase

Hs.502302 [show with all ESTs]

Unigene Representative Sequence: NM_001752

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000241052(uc009ykc.1 uc001mvm.3) ENST00000528104 ENST00000530343

ENST00000525707 ENST00000534710

Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA Products:		Block miRNA regulation of human, mouse, rat CAT using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate CAT (see all 9):
		hsa-miR-30c hsa-miR-520d-5p hsa-miR-30d hsa-miR-190b hsa-miR-30a hsa-miR-30b hsa-miR-524-5p hsa-miR-30e

		SwitchGear 3'UTR luciferase reporter plasmid: CAT 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for CAT
		Predesigned siRNA for gene silencing in human, mouse, rat CAT

Clone Products:		OriGene clones in human, mouse for CAT (see all 7) OriGene ORF clones in mouse, rat for CAT OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CAT (NM_000019)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CAT
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CAT

Primer Products:		OriGene qPCR primer pairs and template standards for CAT OriGene qSTAR qPCR primer pairs in human, mouse for CAT
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat CAT
		QuantiTect SYBR Green Assays in human, mouse, rat CAT
		QuantiFast Probe-based Assays in human, mouse, rat CAT

Additional mRNA sequence:

AK022134.1 AK291585.1 AK310184.1 AK315350.1 AY028632.1 BC027300.1 BC110398.1 BC112217.1

BC112219.1 X04076.1

23 DOTS entries:

DT.219562 DT.100819495 DT.100819489 DT.219561 DT.95261355 DT.97835365 DT.120738830 DT.219557

DT.92453028 DT.95261357 DT.100819488 DT.120738832 DT.449665 DT.92406951 DT.100819490 DT.100819491

DT.219563 DT.75112267 DT.92453018 DT.95261354 DT.99970908 DT.100738129 DT.97858318

Selected AceView cDNA sequences (see all 412):

CA748580 AI190981 AA329857 BQ016836 BM126827 AA295119 AW514043 CR613834

CA394851 AW440886 BG741847 AI986210 CR609505 AL544366 BQ028962 AI064891

BG697373 AL546101 CD356537 AW074278 BG740929 BP349459 CA415426 AI263566

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for CAT (see all 12) About this scheme

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:																																	-		-		-

ExUns:	13a	·	13b
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CAT

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CAT expression in normal human tissues (normalized intensities) CAT embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GCTTAATGTT

About this image

CAT expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 21) fully expand


Bone (Muscoskeletal System) fully expand to see all 2 entries
Bone Marrow
HyStem+BMP4-induced E15 cells

Neural Tube (Nervous System) fully expand to see all 2 entries
Metencephalon

Brain (Nervous System) fully expand to see all 2 entries
Cerebral Cortex

Adipose (Muscoskeletal System)
HyStem+BMP4-induced E15 cells

Cartilage (Muscoskeletal System)
HyStem+BMP4-induced E15 cells

CAT Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

CAT Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.502302

Pathway & Disease-focused RT² Profiler PCR Arrays including CAT (see all 6):

Nephrotoxicity in human mouse rat

Amino Acid Metabolism I in human mouse rat

Oxidative Stress in human mouse rat

Nitric Oxide Signaling Pathway in human mouse rat

Cellular Stress Responses in human mouse rat

Primer Products:		OriGene qPCR primer pairs and template standards for CAT OriGene qSTAR qPCR primer pairs in human, mouse for CAT
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat CAT
		QuantiTect SYBR Green Assays in human, mouse, rat CAT
		QuantiFast Probe-based Assays in human, mouse, rat CAT

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CAT

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for CAT gene from Selected species (see all 29) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cat^{1 , 5}	catalase^{1, 5}	85.9(n)¹ 89.37(a)¹		2 (54.43 cM)⁵ 12359¹ NM_009804.2¹ NP_033934.2¹ 103453849⁵
chicken (Gallus gallus)	Aves	CAT¹	catalase	81.74(n) 88.26(a)		423600 NM_001031215.1 NP_001026386.1
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	Uncharacterized protein (see all 3)	83(a) 83(a) (see all 3)	many → 1 many → 1 (see all 3)	GL343283.1(1401349-1429216) GL343283.1(1515885-1526112)
African clawed frog (Xenopus laevis)	Amphibia	cat-prov²	catalase	77.43(n)		BC054964.1
zebrafish (Danio rerio)	Actinopterygii	cat²	catalase	77.1(n)		30068 AF170069.1
fruit fly (Drosophila melanogaster)	Insecta	Cat^{1 , 3}	catalase reaction catalase³ Catalase¹	66(a) (best of 2)³ 63.39(n)¹ 66.73(a)¹		3 75E1³ 40048¹ NM_080483.3¹ NP_536731.1¹
worm (Caenorhabditis elegans)	Secernentea	Y54G11A.13³ ctl-2¹	catalase³ ctl-2¹	62(a)³ 62.46(n)¹ 64.15(a)¹		175085¹ NM_001027302.5¹ NP_001022473.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CTA1(YDR256C)⁴ CTA1¹	Catalase A, breaks down hydrogen peroxide in the peroxisomal more⁴ CTA1¹	53.18(n)¹ 51.15(a)¹		4(969680-968133)⁴ 851843^{1, 4} NP_010542.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	CAT1¹	CAT1	53.57(n) 46.5(a)		838652 NM_101914.3 NP_564121.1
rice (Oryza sativa)	Liliopsida	Os.156²	Oryza sativa (japonica cultivar-group) mRNA for catalase, more	71.62(n)		AK100019.1

ENSEMBL Gene Tree for CAT (if available)
TreeFam Gene Tree for CAT (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs117518779^1,2	C,F	--	34387363(+)	`GTCATT/CACTTG`	1	--	us2k¹		1		EA	120
rs141198676^1,2		--	34387472(+)	`AATCCA/CTAGTA`	1	--	us2k¹		0	--	--	--	--
rs201514859^1,2		--	34387490(+)	`AAAGG-/AAAAAA`	1	--	us2k¹		0	--	--	--	--
rs564250^1,2	C,F,A,H	--	34387523(+)	`ATGAAC/TAAAGG`	1	--	us2k¹		27		NA NS EA WA CSA	3791
rs114124398^1,2	C,F	--	34387533(+)	`GTTAAG/CAAATG`	1	--	us2k¹		1		WA	118
rs186853796^1,2		--	34387577(+)	`GTGTTC/GGTTAG`	1	--	us2k¹		0	--	--	--	--
rs191640461^1,2		--	34387979(+)	`GAAAAG/TTATAG`	1	--	us2k¹		0	--	--	--	--
rs181120344^1,2		--	34388036(+)	`AGTTCC/TACTTT`	1	--	us2k¹		0	--	--	--	--
rs17881029^1,2	C,F	--	34388134(+)	`TGTACT/CGGAAA`	1	--	us2k¹ tfbs³		3		NS WA	208
rs9282626^1,2	C,F	--	34388180(+)	`TGGTAT/CATACT`	1	--	us2k¹		11		MN NS NA WA	722

HapMap Linkage Disequilibrium report for CAT (34460472 - 34493609 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for CAT: About this table

Variant ID	Type	Subtype	PubMed ID
dgv1069n71	CNV	Gain	21882294
nsv832114	CNV	Gain	17160897
nsv825835	CNV	Gain	20364138
dgv1068n71	CNV	Gain	21882294

Human Gene Mutation Database (HGMD): CAT

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing CAT

DNA2.0 Custom Variant and Variant Library Synthesis for CAT

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 115500
OMIM disorders: 614097
UniProtKB/Swiss-Prot: CATA_HUMAN, P04040

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. Note=The disease is caused

by mutations affecting the gene represented in this entry

Selected diseases for CAT (see all 311): About MalaCards

pityriasis versicolor acatalasia urogenital tuberculosis pneumoconiosis

diabetic cataract meningitis and encephalitis vitiligo congenital rubella

favism meningitis rubella tetraploidy

senile cataract diabetic angiopathy refsum disease pthirus pubis infestation

bacteremia avascular necrosis of the femoral head spermatic cord torsion werdnig-hoffmann disease

19 diseases from the University of Copenhagen DISEASES database for CAT:

Vascular disease Diabetes mellitus Zellweger syndrome Toxic encephalopathy

Cancer Brain disease Heart disease Lung disease

Neurodegenerative disease Hyperglycemia Chronic granulomatous disease Acatalasia

Kidney failure Infantile refsum disease Vitiligo Liver disease

Eye disease Refsum disease Spermatic cord torsion

CAT for disorders About GeneDecksing

Congresses - knowledge worth sharing:
The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

Selected Novoseek inferred disease relationships for CAT gene (see all 92) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acatalasemia	77.5	12	19122680 (2), 1999334 (2), 11001624 (1), 11197178 (1), 8673475 (1), 14996832 (1), 11500062 (1), 11603354 (1) (see top 4)
hypocatalasemia	71.2	1	14996832 (1)
zellweger syndrome	71.2	10	1946426 (3), 1651504 (1), 9408912 (1), 8931469 (1), 8618694 (1), 1560037 (1), 7687405 (1) (see top 4)
peroxisomal disorders	68.3	2	2295968 (1), 8463903 (1)
cell damage	67.2	32	11729237 (2), 19917279 (2), 14675044 (2), 1958348 (1), 8005512 (1), 9789773 (1), 8034601 (1), 8403080 (1), 15852342 (1), 9649223 (1), 7834818 (1), 8279580 (1), 16784144 (1), 7959563 (1), 16630078 (1), 7638161 (1), 15927145 (1), 15454276 (1), 17401513 (1), 12871859 (1), 17334903 (1), 17640563 (1), 8611642 (1), 11896826 (1), 16602626 (1), 9294717 (1), 10628300 (1) (see top 4)
adrenoleukodystrophy neonatal	65	2	7687405 (1), 1689088 (1)
refsum disease infantile	63.9	6	7510868 (2), 9408912 (1), 1689088 (1), 7687405 (1)
peroxisome biogenesis disorders	59	4	10567403 (1), 15184617 (1), 10960480 (1)
granulomatous disease chronic	57.4	7	9864180 (1), 15135177 (1), 1370724 (1), 12706409 (1), 8872429 (1), 8315349 (1), 20367233 (1) (see top 4)
vitiligo	55.4	66	11837458 (7), 19439879 (4), 18315617 (4), 17433173 (3), 16630078 (3), 1748819 (2), 16729966 (2), 19416376 (2), 1698887 (1), 11168813 (1), 9284096 (1), 10393521 (1), 14766237 (1), 18624857 (1), 15771551 (1), 10468804 (1), 9585244 (1), 17071589 (1), 16528352 (1), 16101862 (1), 12390184 (1), 18353692 (1), 17656936 (1), 16783073 (1), 11676831 (1), 19087715 (1), 8274781 (1), 14530988 (1), 17943184 (1) (see top 4)

Genatlas disease: CAT

acatalasia

Genetic Association Database (GAD): CAT
Human Genome Epidemiology (HuGE) Navigator: CAT (269 documents)

Export disorders for CAT gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CAT gene, integrated from 10 sources (see all 3584):
(articles sorted by number of sources associating them with CAT)

Utopia: connect your pdf to the dynamic
world of online information

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. (PubMed id 18606005)^{1, 4, 9} D'souza A....Scofield R.H. (BMC Med. Genet. 2008)
Association of CAT polymorphisms with catalase activity and exposure to environmental oxidative stimuli. (PubMed id 16298864)^{1, 4, 9} Nadif R....Kauffmann F. (Free Radic. Res. 2005)
Genetic association of the catalase gene (CAT) with vitiligo susceptibility. (PubMed id 11837458)^{1, 4, 9} Casp C.B....McCormack W.T. (Pigment Cell Res. 2002)
Functional variants in the catalase and myeloperoxidase genes, ambient air pollution, and respiratory-related school absences: an example of epistasis in gene-environment interactions. (PubMed id 19897513)^{1, 4, 9} Wenten M....Gilliland F.D. (Am. J. Epidemiol. 2009)
Associations between catalase phenotype and genotype: modification by epidemiologic factors. (PubMed id 16775184)^{1, 4, 9} Ahn J....Ambrosone C.B. (amp 2006)
Polymorphisms in oxidative stress-related genes are not associated with prostate cancer risk in heavy smokers. (PubMed id 17548672)^{1, 4, 9} Choi J.Y....Ambrosone C.B. (amp 2007)
Association study between catalase gene polymorphisms and the susceptibility to vitiligo in Korean population. (PubMed id 16630078)^{1, 4, 9} Park H.H....Lee M.H. (Exp. Dermatol. 2006)
Influence of the polymorphism in candidate genes on late cardiac damage in patients treated due to acute leukemia in childhood. (PubMed id 19863340)^{1, 4, 9} RajiA8 V....Jazbec J. (amp 2009)
[Lack of association between metabolic and antioxidant gene polymorphisms (GSTM1, GSTT1, CAT, MnSOD, GPX1) and maternal quitting of smoking in pregnancy--preliminary results]. (PubMed id 20301895)^{1, 4, 9} Hozyasz K.K....JagodziA8ski P.P. (Prz. Lek. 2009)
Short arm of chromosome 11 and sporadic Alzheimer's disease: catalase and cathepsin D gene polymorphisms. (PubMed id 18248894)^{1, 4, 9} Capurso C....Panza F. (Neurosci. Lett. 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 847	HGNC: 1516	AceView: CAT	Ensembl:ENSG00000121691	euGenes: HUgn847
ECgene: CAT	Kegg: 847	H-InvDB: CAT

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CAT	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CAT	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Catalase
SeattleSNPs	http://pga.gs.washington.edu/data/cat/

Intellectual Property for CAT gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CAT gene:
Search GeneIP for patents involving CAT

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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Senile cataract
WILSON DISEASE
Infertility
Genetic Susceptibility
Osteomyelitis
Acute myocardial infarction
Refsum Disease Infantile
Peroxisomal Disorders
Xeroderma Pigmentosum
Polyps
ADENOCARCINOMA LUNG
Protoporphyria Erythropoietic
OXIDASE DEFICIENCY
Atherosclerosis
Ischemia
Asphyxia
Skin Diseases
Intoxication
Esophagitis
cell damage
Cancer
Hemolysis
Meningitis
Hepatitis B Chronic
RENAL DISEASE
Granulomatous Disease Chronic
Shock
Alcoholic Cirrhosis
Adrenoleukodystrophy Neonatal
Inflammation
Diabetic Nephropathies
Pityriasis Versicolor
Oral Cancer
Hepatitis
immunodeficiency
Hyperglycemia
LIVER DAMAGE
Tumors
Hypocatalasemia
Cardiovascular Diseases
Refsum Disease
Necrosis
Renal Failure Acute
Hepatoblastoma
Preeclampsia
Adrenoleukodystrophy
trichothiodystrophy
Acatalasemia
Zellweger Syndrome
Neurodegenerative Diseases
Melanoma
Tuberculosis Pulmonary
promyelocytic leukemia
Parkinson Disease
Glioma
atherosclerotic plaque
Superficial gastritis
Diabetic Angiopathies
INFARCT
Leukemia
Alzheimers Disease
Bacteremia
MPO DEFICIENCY
Diabetes Mellitus
Osteosarcoma
neurodegeneration
Cataract
PEROXISOME BIOGENESIS DISORDERS
CERVICAL CARCINOMA
Lymphopenia
Goiter
CHRONIC RHEUMATIC HEART DISEASE
Pneumoconiosis
Skin Cancer
Respiratory disease
Liver Diseases Alcoholic
Diabetic cataract
Chondrodysplasia Punctata Rhizomelic
Gastritis
Lung diseases
Infertility Male
Atrophy
Vascular Diseases
Iron Overload
Granuloma
clastogenesis
Glomerulonephritis
NIDDM
Growth retardation
Vitiligo
Encephalitis
Renal Failure Chronic

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CAT Gene

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