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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CTSO Gene

protein-coding GIFtS: 54
GCID: GC04M156845

cathepsin O

(Previous symbol: CTSO1)

Explore 2 diseases affiliated with
CTSO via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Cathepsin O¹ ²
CTSO1¹ ² ³
EC 3.4.22.42³

External Ids:	HGNC: 2542¹	Entrez Gene: 1519²	Ensembl: ENSG00000256043⁷	OMIM: 600550⁵	UniProtKB: P43234³

Export aliases for CTSO gene to outside databases

Previous GC identifers: GC04M157734 GC04M157274 GC04M157422 GC04M157202 GC04M157064 GC04M152584

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CTSO:

The protein encoded by the gene is a cysteine proteinase and a member of the papain superfamily. This proteolytic

enzyme is involved in cellular protein degradation and turnover. The recombinant form of this enzyme was shown to

degrade synthetic peptides typically used as substrates for cysteine proteinases and its proteolytic activity was

abolished by an inhibitor of cyteine proteinase. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CATO_HUMAN, P43234

Function: Proteolytic enzyme possibly involved in normal cellular protein degradation and turnover

Gene Wiki entry for CTSO (Cathepsin O)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for CTSO
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CTSO promoter sequence

Search SABiosciences Chromatin IP Primers for CTSO

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTSO

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

Entrez Gene cytogenetic band: 4q32.1 Ensembl cytogenetic band: 4q32.1 HGNC cytogenetic band: 4q32.1

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

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M156845: view genomic region (about GC identifiers)

Start:	156,845,270 bp from pter	End:	156,875,069 bp from pter
Size:	29,800 bases	Orientation:	minus strand

1 alternative location:

Chr4-,PATCHES 156,838,945-156,868,717

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CATO_HUMAN, P43234 (See protein sequence)

Recommended Name: Cathepsin O precursor

Size: 321 amino acids; 35958 Da

Subcellular location: Lysosome

Explore the universe of human proteins at neXtProt for CTSO: NX_P43234

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P43234

CTSO Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_001325.1

ENSEMBL proteins:

ENSP00000414904

Reactome Protein details: P43234
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	Uscn Proteins for CTSO

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005764	lysosome	IEA	--

CTSO for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CTSO for domains About GeneDecksing

4 InterPro domains/families:

IPR013128 Peptidase_C1A

IPR025660 Pept_his_AS

IPR000668 Peptidase_C1A_C

IPR000169 Pept_cys_AS

Graphical View of Domain Structure for InterPro Entry P43234

ProtoNet protein and cluster: P43234

1 Blocks protein family: IPB000668 Papain cysteine protease (C1) family signature

UniProtKB/Swiss-Prot: CATO_HUMAN, P43234

Similarity: Belongs to the peptidase C1 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CATO_HUMAN, P43234

Function: Proteolytic enzyme possibly involved in normal cellular protein degradation and turnover

Catalytic activity: The recombinant human enzyme hydrolyzes synthetic endopeptidase substrates including

Z-Phe-Arg-NHMec and Z-Arg-Arg-NHMec

Genatlas biochemistry entry for CTSO:

cathepsin O,lysosomal cysteine proteinase,papain superfamily,ubiquitously expressed

Enzyme Number (IUBMB): EC 3.4.22.42¹

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In Situ Assay
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004197	cysteine-type endopeptidase activity	TAS	7929457

CTSO for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Lysosome

Lysosome

1.00

MHC class II antigen presentation

MHC class II antigen presentation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for CTSO

	Adaptive Immune System
	Immune System
	MHC class II antigen presentation

1 Kegg Pathway (Kegg details for CTSO):

Lysosome

CTSO for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CTSO

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--

CTSO for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CTSO
Search CenterWatch for drugs/clinical trials and news about CTSO / CATO

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CTSO gene:

NM_001334.2

Unigene Cluster for CTSO:

Cathepsin O

Hs.75262 [show with all ESTs]

Unigene Representative Sequence: NM_001334

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000433477(uc003ipg.3)

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		hsa-miR-578 hsa-miR-3647-3p
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Additional cDNA sequence:

AK300112.1 AK308323.1 AK312354.1 BC049206.1 X77383.1

4 DOTS entries:

DT.452446 DT.121218744 DT.100809660 DT.40191333

24/138 AceView cDNA sequences (see all 138):

BQ002824 AI348405 AA885288 AI889600 AI523707 BX956104 BU735518 AI522027

BX113588 AI708625 AA918547 BM129303 AI480391 NM_001334 AI192248 AW236731

AI033423 BE219235 AI635547 AA922992 BM998065 AI247114 AA024432 AW305190

GeneLoc Exon Structure

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CTSO expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATGCAGTA

About this image

CTSO expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Metencephalon

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ progenitor EN13 (Embryonic Progenitor Cell)

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

Genevestigator expression for CTSO

SOURCE GeneReport for Unigene cluster: Hs.75262

UniProtKB/Swiss-Prot: CATO_HUMAN, P43234

Tissue specificity: Expressed in all tissues examined. High levels seen in the ovary, kidney and placenta while low

levels seen in thymus and skeletal muscle

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In Situ
Assay Products:

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(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CTSO gene from 5/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ctso^{1 , 5}	cathepsin O^{1, 5}	80.16(n)¹ 76.82(a)¹		3 (35.97 cM)⁵ 229445¹ NM_177662.2¹ NP_808330.1¹ 81932601⁵
chicken (Gallus gallus)	Aves	CTSO¹	cathepsin O	74.06(n) 72.54(a)		422410 NM_001031129.1 NP_001026300.1
lizard (Anolis carolinensis)	Reptilia	CTSO⁶	--	67(a)	1 ↔ 1	5(129429266-129442459)
zebrafish (Danio rerio)	Actinopterygii	ctso¹	cathepsin O	60.79(n) 57.55(a)		567333 XM_690625.4 XP_695717.3
mosquito (Anopheles gambiae)	Insecta	AgaP_AGAP002720¹	AGAP002720-PA	46.96(n) 43.12(a)		1273246 XM_312205.4 XP_312205.4

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CTSO gene

TINAG² CTSL1² CTSF² CTSW² CTSK² CTSB² CTSL2² CTSS²

CTSH² CTSC² TINAGL1² CTSZ²

7 SIMAP similar genes for CTSO using alignment to 1 protein entry: CATO_HUMAN:

CTSS CTSF CTSK CTSL2 CTSL1 CTSW

CTSH

CTSO for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10714400^1,2	C,	--	152586148(+)	`AAAAA-/GGAATT`	1	--	int¹		0	--	--	--	--
rs144035354^1,2		--	156844788(+)	`TAAATA/GCAGGG`	1	--	ds500¹		0	--	--	--	--
rs147374139^1,2		--	156844949(+)	`GGAGGC/TAGGTA`	1	--	ds500¹		0	--	--	--	--
rs148436339^1,2		--	156845034(+)	`TGATTC/GCATAA`	1	--	ds500¹		0	--	--	--	--
rs78042919^1,2	C,	--	156845084(+)	`AAGGAA/CATTTT`	1	--	ds500¹		0	--	--	--	--
rs191680907^1,2		--	156845099(+)	`GGGGGA/TGGTGG`	1	--	ds500¹		0	--	--	--	--
rs78242193^1,2	F,	--	156845144(+)	`AAACAC/GTGAGG`	1	--	ds500¹		1		WA	118
rs184146663^1,2		--	156845253(+)	`AAGCCA/GTACAC`	1	--	ds500¹		0	--	--	--	--
rs149113091^1,2		--	156845414(+)	`CACAT-/AGAAA GTCAGCGAAGAAA`	1	--	ut3¹		0	--	--	--	--
rs187325681^1,2		--	156845436(+)	`CAAACG/TAGACA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CTSO (156845270 - 156875069 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for CTSO
5 CNVs: 36215 0579 36216 36217 36218

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CTSO

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CTSO for disorders           About GeneDecksing

OMIM gene information: 600550    OMIM disorders: --

2 diseases for CTSO:    About MalaCards

breast carcinoma carcinoma

Export disorders for CTSO 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)
About This Section

PubMed articles for CTSO gene integrated from 9 sources:
(articles sorted by number of sources associating them with CTSO)

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

Genomic structure and chromosomal localization of the human cathepsin O gene (CTSO). (PubMed id 9790772)^{1, 3, 9} Santamaria I....Lopez-Otin C. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Human cathepsin O. Molecular cloning from a breast carcinoma, production of the active enzyme in Escherichia coli, and expression analysis in human tissues. (PubMed id 7929457)^{1, 2} Velasco G.... Lopez-Otin C. (1994)
Proteomics strategy to identify substrates of LNX, a P DZ domain-containing E3 ubiquitin ligase. (PubMed id 22889411)¹ Guo Z....Gao Y. (2012)
First genome-wide association scan on neurophysiologi cal endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic chi ldren. (PubMed id 19786962)¹ Roeske D....Schulte-KAPrne G. (2009)
Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)¹ Lamesch P.... Vidal M. (2007)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Molecular cloning of human cathepsin O, a novel endoproteinase and homologue of rabbit OC2. (PubMed id 7805878)¹ Shi G.-P....Weiss S.J. (1995)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
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)
About This Section

Entrez Gene: 1519	HGNC: 2542	AceView: CTSO	Ensembl:ENSG00000256043	euGenes: HUgn1519
ECgene: CTSO	Kegg: 1519	H-InvDB: CTSO

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CTSO	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section


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	Browse OriGene Antibodies		OriGene shRNA RFP for CTSO
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTSO		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CTSO
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CTSO
	Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CTSO
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTSO
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	GenScript Custom Purified and Recombinant Proteins Services for CTSO		GenScript cDNA clones with any tag delivered in your preferred vector for CTSO
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	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSO

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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSO

GeneCards Homepage - Last full update: 6 May 2013 -

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Category			VWF (GIFTS: 73) von Willebrand factor
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes CTSO gene at Home site.

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CTSO Gene

cathepsin O

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Export list of displayed genes

CTSO Gene

cathepsin O

Aliasesfor CTSO gene

Summariesfor CTSO gene

Genomic Viewsfor CTSO gene

Proteinsfor CTSO gene

Protein Domains /Familiesfor CTSO gene

Functionfor CTSO gene

Pathways & Interactionsfor CTSO gene

Drugs & Compoundsfor CTSO gene

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for CTSO gene

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for CTSO gene

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for CTSO gene

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for CTSO gene

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for CTSO gene

Function
for CTSO gene

Pathways & Interactions
for CTSO gene

Drugs & Compounds
for CTSO gene

Transcripts
for CTSO gene

Expression
for CTSO gene

Orthologs
for CTSO gene

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for CTSO gene

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for CTSO gene

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for CTSO gene

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for CTSO gene

Intellectual Property
for CTSO gene

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for CTSO gene