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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CTSA Gene

protein-coding GIFtS: 61
GCID: GC20P044519

cathepsin A

(Previous name: protective protein for beta-galactosidase (galactosialidosis)...)
(Previous symbols: GSL, PPGB)

Explore 32 diseases affiliated with
CTSA 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 A¹ ² ³		Beta-Galactosidase 2²
PPGB¹ ² ³ ⁵		Beta-Galactosidase Protective Protein²
GSL¹ ² ⁵		Carboxypeptidase Y-Like Kininase²
Carboxypeptidase C² ³		Carboxypeptidase-L¹
Carboxypeptidase L² ³		Deamidase¹
Protective Protein Cathepsin A² ³		Lysosomal Carboxypeptidase A²
PPCA² ³		Lysosomal Protective Protein²
EC 3.4.16.5³ ⁸		Urinary Kininase²
GLB2² ⁵		Protective Protein For Beta-Galactosidase³
NGBE² ⁵		EC 3.4.16⁸
Protective Protein For Beta-Galactosidase (Galactosialidosis)¹

External Ids:	HGNC: 9251¹	Entrez Gene: 5476²	Ensembl: ENSG00000064601⁷	OMIM: 613111⁵	UniProtKB: P10619³

Export aliases for CTSA gene to outside databases

Previous GC identifers: GC20P043953 GC20P041261

(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 CTSA:

This gene encodes a glycoprotein which associates with lysosomal enzymes beta-galactosidase and neuraminidase to form a

complex of high molecular weight multimers. The formation of this complex provides a protective role for stability and

activity. Deficiencies in this gene are linked to multiple forms of galactosialidosis. Alternatively spliced

transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PPGB_HUMAN, P10619

Function: Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it

associates with these enzymes and exerts a protective function necessary for their stability and activity. This

protein is also a carboxypeptidase and can deamidate tachykinins

summary for CTSA:

Cathepsins are a group of lysosomal proteases that have a key role in cellular protein turnover. The term

cathepsin includes serine proteases (cathepsins A and G), aspartic proteases (cathepsin D and E) as well as

the cysteine proteases (cathepsins B, C, F, H, K, L, O, S, W and Z). Most cathepsins are endopeptidases,

with the exception of cathepsin C and Z. Cathepsins are synthesized as inactive proenzymes, glycosylated

post-translationally, and directed towards the lysosomal compartment by cellular mannose-6-phosphate

receptors. Their activity is regulated by several mechanisms including regulation of synthesis, zymogen

processing, inhibition by endogenous inhibitors (e.g. stefins and cystatins for cysteine cathepsins) and pH.

The main function of cathepsins is protein recycling within the lysosome but they are also known to be

involved in a range of other physiological, as well as pathological processes, including maturation of the

MHC class II complex, bone remodeling, keratinocyte differentiation, tumor progression and metastasis,

rheumatoid arthritis, osteoarthritis and atherosclerosis.

Gene Wiki entry for CTSA (Cathepsin A)

(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_000020.10 NC_018931.1 NT_011362.10

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CTSA gene promoter:
PPAR-alpha TBP Pax-5 Nkx2-5 Tal-1beta GATA-2 YY1 E47
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CTSA promoter sequence

Search SABiosciences Chromatin IP Primers for CTSA

Epigenetics:

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

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

Entrez Gene cytogenetic band: 20q13.1 Ensembl cytogenetic band: 20q13.12 HGNC cytogenetic band: 20q13.12

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

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20P044519: view genomic region (about GC identifiers)

Start:	44,519,591 bp from pter	End:	44,527,459 bp from pter
Size:	7,869 bases	Orientation:	plus strand

(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: PPGB_HUMAN, P10619 (See protein sequence)

Recommended Name: Lysosomal protective protein precursor

Size: 480 amino acids; 54466 Da

Subunit: Heterodimer of a 32 kDa chain and a 20 kDa chain; disulfide-linked

Subcellular location: Lysosome

Sequence caution: Sequence=CAI20248.1; Type=Erroneous initiation;

6 PDB 3D structures from and Proteopedia for CTSA:

1IVY (3D)

3BP4 (3D)

3BP7 (3D)

3BXN (3D)

4AZ0 (3D)

4AZ3 (3D)

Secondary accessions: B2R798 Q561W6 Q5JZH1 Q96KJ2 Q9BR08 Q9BW68

Explore the universe of human proteins at neXtProt for CTSA: NX_P10619

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P10619

4/5 DME Specific Peptides for CTSA (P10619) (see all 5)

TGESYAG

GGPGCSS

YIPTLAV

ESPAGVG

CTSA Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000299.2 NP_001121167.1 NP_001161066.1

ENSEMBL proteins:

ENSP00000361562 ENSP00000191018 ENSP00000408533 ENSP00000361537 ENSP00000346952

Reactome Protein details: P10619
Human Recombinant Protein Products:

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	Novus Biologicals CTSA Protein Novus Biologicals CTSA Lysates
	Sino Biological Recombinant Protein for CTSA
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CTSA

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005739	mitochondrion	IEA	--
GO:0005764	lysosome	NAS	3136930
GO:0005783	endoplasmic reticulum	TAS	1387645

CTSA for ontologies About GeneDecksing

CTSA Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Novus Biologicals CTSA Antibodies
	Search for Antibodies for CTSA at Abcam
	Uscn Antibodies for CTSA
	ThermoFisher Antibody for CTSA

Assay Products for CTSA:

	Browse Kits and Assays available from EMD Millipore
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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CTSA

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

CTSA for domains About GeneDecksing

2 InterPro domains/families:

IPR018202 Peptidase_S10_AS

IPR001563 Peptidase_S10

Graphical View of Domain Structure for InterPro Entry P10619

ProtoNet protein and cluster: P10619

1 Blocks protein family: IPB001563 Serine carboxypeptidase (S10)

UniProtKB/Swiss-Prot: PPGB_HUMAN, P10619

Similarity: Belongs to the peptidase S10 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: PPGB_HUMAN, P10619

Function: Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it

associates with these enzymes and exerts a protective function necessary for their stability and activity. This

protein is also a carboxypeptidase and can deamidate tachykinins

Catalytic activity: Release of a C-terminal amino acid with broad specificity

Enzyme Numbers (IUBMB): EC 3.4.16.5¹ ² EC 3.4.16²

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CTSA Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSA
		8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate CTSA (see all 31):
		hsa-miR-142-5p hsa-miR-302d hsa-miR-520e hsa-miR-185* hsa-miR-148b hsa-miR-106a hsa-miR-302e hsa-miR-4275

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

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTSA (see all 7) OriGene shRNA RFP: CTSA OriGene siRNA: CTSA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTSA

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CTSA

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CTSA (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CTSA (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): CTSA (NM_000308)
		Sino Biological Human cDNA Clone for CTSA
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTSA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSA

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CTSA
		Search LifeMap BioReagents cell lines for CTSA

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSA

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004180	carboxypeptidase activity	TAS	2244901
GO:0004185	serine-type carboxypeptidase activity	IEA	--
GO:0005515	protein binding	--	--
GO:0008047	enzyme activator activity	TAS	3107551

CTSA for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for CTSA:

Increased G1 DNA content

Synthetic lethal with c-Myc af

Animal Models:
Mouse knock-out Ctsa^tm1Adz for CTSA
14 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Ctsa):

behavior/neurological	cardiovascular system	cellular	craniofacial	growth/size
hematopoietic system	homeostasis/metabolism	immune system	integument	liver/biliary system
mortality/aging	renal/urinary system	reproductive system	respiratory system

CTSA for phenotypes 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 - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Sphingolipid metabolism

Sphingolipid metabolism

1.00

Glycosphingolipid metabolism

0.54

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

Renin-angiotensin system

Renin-angiotensin system

1.00

Lysosome

Lysosome

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/7 Reactome Pathways for CTSA (see all 7)

	Sphingolipid metabolism
	Glycosphingolipid metabolism
	Metabolism
	Adaptive Immune System
	Immune System

2 Kegg Pathways (Kegg details for CTSA):

	Lysosome
	Renin-angiotensin system

CTSA for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CTSA

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

5/34 Interacting proteins for CTSA (P10619³ ENSP00000361562⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
NEU1	Q99519³, ENSP00000364782⁴	I2D: score=4 STRING: ENSP00000364782
CTNNBIP1	Q9NSA3³, ENSP00000366466⁴	I2D: score=2 STRING: ENSP00000366466
GLB1	P16278³, ENSP00000306920⁴	I2D: score=2 STRING: ENSP00000306920
LAMP2	P13473³, ENSP00000408411⁴	I2D: score=1 STRING: ENSP00000408411
UBC	P0CG48³, ENSP00000344818⁴	I2D: score=1 STRING: ENSP00000344818

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--
GO:0006644	phospholipid metabolic process	TAS	--
GO:0006665	sphingolipid metabolic process	TAS	--
GO:0006687	glycosphingolipid metabolic process	TAS	--
GO:0006886	intracellular protein transport	TAS	1387645

CTSA 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

CTSA for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for CTSA available from Tocris Bioscience About this table

Compound	Action	CAS #
MDL 28170	Potent, selective calpain and cathepsin B inhibitor	[88191-84-8]

8 Novoseek chemical compound relationships for CTSA gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ppca	96.3	96	10982818 (8), 9501080 (7), 19666471 (6), 9736781 (5) (see all 15)
ebelactone b	86.8	4	14737963 (4)
ninhydrin	73.3	3	9379666 (1), 10526437 (1), 10526436 (1)
clasto-lactacystinbeta-lactone	70.5	1	16870514 (1)
chymostatin	70.2	1	16995740 (1)
lactacystin	64	7	10856705 (2), 9175783 (1)
serine	56.5	24	18430788 (2), 8312369 (1), 12505983 (1), 9425240 (1) (see all 16)
mannose 6-phosphate	45.4	2	14687610 (1)

Search CenterWatch for drugs/clinical trials and news about CTSA / PPGB

(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 CTSA gene (3 alternative transcripts):

NM_000308.2 NM_001127695.1 NM_001167594.1

Unigene Cluster for CTSA:

Cathepsin A

Hs.609336 [show with all ESTs]

Unigene Representative Sequence: AK172808

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

ENST00000372484 ENST00000191018 ENST00000419493 ENST00000372459 ENST00000485627

ENST00000493522 ENST00000480961 ENST00000484855 ENST00000354880(uc002xqh.3 uc002xqj.4 uc010zxi.2 uc002xqi.3)

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CTSA Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTSA
		8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate CTSA (see all 31):
		hsa-miR-142-5p hsa-miR-302d hsa-miR-520e hsa-miR-185* hsa-miR-148b hsa-miR-106a hsa-miR-302e hsa-miR-4275

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

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTSA (see all 7) OriGene shRNA RFP: CTSA OriGene siRNA: CTSA
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTSA

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CTSA (see all 6) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CTSA (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): CTSA (NM_000308)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTSA
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSA

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CTSA Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CTSA
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTSA
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTSA

Additional cDNA sequence:

AB209705.2 AF086236.1 AK097786.1 AK172808.1 AK304536.1 AK307701.1 AK312898.1 BC000597.2

BC093009.1 M22960.1

24/66 DOTS entries (see all 66):

DT.95269605 DT.91961729 DT.92466615 DT.100691619 DT.100691662 DT.95132974 DT.100039502 DT.92466574

DT.120817194 DT.100841836 DT.100691691 DT.95351001 DT.40212852 DT.120817249 DT.100691652 DT.100691689

DT.100691624 DT.120817704 DT.120817900 DT.102842129 DT.120817781 DT.100039501 DT.120817333 DT.120817465

24/913 AceView cDNA sequences (see all 913):

CR590686 AA360895 CA429525 BX334456 CB125530 AW440304 BF724943 BG760518

BM473126 CB216521 AL527471 BG765503 CR618673 BM716347 BM846963 BM921661

AL543522 N28810 BQ710023 CR595889 BF893855 CR609128 BM557888 BQ720515

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CTSA (see all 10) About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b	·	6c	^	7	^	8	^	9	^	10	^	11	^	12a	·	12b	·	12c	^	13a	·	13b	^	14a	·	14b	·	14c
SP1:											-										-																-		-				-
SP2:									-		-										-
SP3:
SP4:							-				-
SP5:					-		-		-		-										-

ECgene alternative splicing isoforms for CTSA

(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

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

About this image
See CTSA Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CTSA

SOURCE GeneReport for Unigene cluster: Hs.609336

SABiosciences Expression via Pathway-Focused PCR Arrays including CTSA:

Polycomb & Trithorax Target Genes in human mouse rat

Hypoxia Signaling Pathway in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CTSA Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CTSA
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTSA
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTSA

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSA

(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 eukaryotes.

Orthologs for CTSA gene from 9/27 species (see all 27) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ctsa^{1 , 5}	cathepsin A^{1, 5}	86.18(n)¹ 87.8(a)¹		2 (85.27 cM)⁵ 19025¹ NM_008906.3¹ NP_032932.2¹ 164832873⁵
chicken (Gallus gallus)	Aves	CTSA¹	cathepsin A	69.44(n) 66.67(a)		428163 NM_001031491.1 NP_001026662.1
lizard (Anolis carolinensis)	Reptilia	CTSA⁶	--	65(a)	1 ↔ 1	GL344146.1(2027-14904)
African clawed frog (Xenopus laevis)	Amphibia	Xl.1827²	Xenopus laevis transcribed sequence with weak similarity more	80.31(n)		CF282647.1
zebrafish (Danio rerio)	Actinopterygii	zgc65802²	hypothetical protein MGC65802	74.52(n)		393522 BC052133.1
worm (Caenorhabditis elegans)	Secernentea	F13D12.6¹	Protein F13D12.6	49.5(n) 44.11(a)		174802 NM_064106.4 NP_496507.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	(YBR139W)⁴ YBR139W¹	Putative serine type carboxypeptidase with a role in more⁴ hypothetical protein¹	43.7(n)¹ 38.07(a)¹		2(515664-517190)⁴ 852436^{1, 4} NP_009697.3¹ NP_009697.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	scpl20¹	carboxypeptidase C	46.56(n) 40.58(a)		826903 NM_117360.7 NP_193027.5
rice (Oryza sativa)	Liliopsida	Os.8411²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	73.98(n)		AK068732.1

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

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

Paralogs for CTSA gene

CPVL²

2 SIMAP similar genes for CTSA using alignment to 4 protein entries: PPGB_HUMAN (see all proteins):

PPGB CPVL

CTSA 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 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137854544^1,2	C	pathogenic	41264657(+)	`ACTTCA/TATGAC`	6	N Y	mis¹		0	--	--	--	--
rs112603940^1,2		--	41260159(+)	`GATGGG/AGTCTC`	3	--	us2k¹		2		CSA WA	120
rs6073944^1,2	C,	--	41260528(+)	`gtgccC/TggccA`	3	--	us2k¹		0	--	--	--	--
rs6032577^1,2	C,H	--	41261254(+)	`CGGTTG/CTGGTG`	3	--	us2k¹		4		NS EA	414
rs6104389^1,2	F,H,	--	41262055(+)	`CGGCAG/AAGGAG`	3	--	int¹ ese³		5		NS EA WA	534
rs78991921^1,2	C	--	41262324(-)	`GGCGGA/GAAGAC`	6	S F	mis¹		0	--	--	--	--
rs4942^1,2	H	--	41263442(+)	`GGCATC/ATACAT`	6	/I	syn¹ ese³		5		MN NS EA	600
rs200696017^1,2	C	--	41264102(+)	`TCTTTC/TTNNNN`	3	--	int¹		0	--	--	--	--
rs112728846^1,2	C,	--	41264247(+)	`GGCGCG/ATACCA`	3	--	int¹		1		NA	2
rs55919601^1,2	C,F,	--	41264780(+)	`TCTCCG/ATCCCT`	3	--	int¹		4		WA CSA	124

HapMap Linkage Disequilibrium report for CTSA (44519591 - 44527459 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CTSA
1 CNV: 50668
Human Gene Mutation Database (HGMD): CTSA

SABiosciences Cancer Mutation PCR Assays

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

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

CTSA for disorders           About GeneDecksing

OMIM gene information: 613111
OMIM disorders: 256540
UniProtKB/Swiss-Prot: PPGB_HUMAN, P10619

Defects in CTSA are the cause of galactosialidosis (GSL) [MIM:256540]. A lysosomal storage disease associated

with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients

have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral

changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The

early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early

death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a

normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma,

mental retardation, neurologic deterioration, absence of visceromegaly, and long survival

20/32 diseases for CTSA (see all 32): About MalaCards

galactosialidosis rheumatoid arthritis ring chromosome 20 angle-closure glaucoma

osteoarthritis lysosomal storage disease ring chromosomes atherosclerosis

arthritis sialidosis pelvic inflammatory disease angiokeratoma

glaucoma metabolic disorders retinal detachment myoclonus

aortic aneurysm gangliosidosis fabry disease neurodegenerative disease

2 diseases from the University of Copenhagen DISEASES database for CTSA:

Lysosomal storage disease Primary angle-closure glaucoma

10/14 Novoseek disease relationships for CTSA gene (see all 14) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
sialidosis	93.9	9	9501080 (1), 11550799 (1), 16538002 (1), 10571006 (1) (see all 6)
glaucoma absolute	81.8	7	10526437 (4), 10526436 (3)
lysosomal storage diseases	76.8	10	18396002 (1), 19097920 (1), 19666471 (1), 12649068 (1) (see all 7)
morquios syndrome	70.5	2	11550799 (1)
enzyme deficiency	39.1	1	10571006 (1)
metabolic disorder	33.9	2	11550799 (1), 11076198 (1)
aqueous humor	23.9	7	10526436 (5), 9104505 (2)
neurodegenerative diseases	5.76	2	9843984 (1)
genetic disorder	4.32	3	8985184 (1)
glaucoma	0	2	9104505 (2)

Export disorders for CTSA 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 CTSA gene, integrated from 9 sources (see all 143):
(articles sorted by number of sources associating them with CTSA)

Utopia: connect your pdf to the dynamic
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Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. (PubMed id 10944848)^{1, 2, 9} Takiguchi K....Sakuraba H. (2000)
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. (PubMed id 8968752)^{1, 2, 9} Zhou X.Y....d'Azzo A. (1996)
A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal 'protective protein'. (PubMed id 1694176)^{1, 2, 9} Jackman H.L.... Erdoes E.G. (1990)
Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)^{1, 2} Lewandrowski U.... Sickmann A. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{1, 2} Gevaert K.... Vandekerckhove J. (2003)
The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)^{1, 2} Deloukas P....Rogers J. (2001)
Three-dimensional structure of the human 'protective protein': structure of the precursor form suggests a complex activation mechanism. (PubMed id 8591035)^{1, 2} Rudenko G.... Hol W.G.J. (1995)
Protective protein gene mutations in galactosialidosis. (PubMed id 8514852)^{1, 2} Shimmoto M.... Suzuki Y. (1993)

(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: 5476	HGNC: 9251	AceView: PPGB	Ensembl:ENSG00000064601	euGenes: HUgn5476
ECgene: CTSA	Kegg: 5476	H-InvDB: CTSA

(According to HUGE)
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(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 CTSA	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTSA

Intellectual Property for CTSA 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 CTSA gene:
Search GeneIP for patents involving CTSA

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

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CTSA (Gene Symbol)
Cathepsin A
PPGB
GSL
Carboxypeptidase C
Carboxypeptidase L
Protective Protein Cathepsin A
PPCA
EC 3.4.16.5
GLB2
NGBE
Protective Protein For Beta-Galactosidase (Galactosialidosis)
Beta-Galactosidase 2
Beta-Galactosidase Protective Protein
Carboxypeptidase Y-Like Kininase
Carboxypeptidase-L
Deamidase
Lysosomal Carboxypeptidase A
Lysosomal Protective Protein
Urinary Kininase
Protective Protein For Beta-Galactosidase
EC 3.4.16

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CTSA Gene

cathepsin A

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