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CTSA Gene

protein-coding   GIFtS: 56

GC20P041261
cathepsin A
(Previous name: protective protein for beta-galactosidase (galactosialidosis) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: GSL, PPGB)
Products    

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

Aliases & Descriptions
cathepsin A1 2 3     GSL2 5
PPGB2 3 5     protective protein for beta-galactosidase (galactosialidosis)1
Protective protein cathepsin A2 3     lysosomal protective protein2
Carboxypeptidase C2 3     OTTHUMP000000317812
Carboxypeptidase L2 3     beta-galactosidase protective protein2
PPCA2 3     beta-galactosidase 22
NGBE2 5     Protective protein for beta-galactosidase3
GLB22 5     EC 3.4.16.53

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

Export aliases for CTSA gene to outside databases

Previous GC identifers: GC20P043953 GC20P044519


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CTSA
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CTSA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P041261:  view genomic region     (about GC identifiers)

Start:
41,261,571 bp from pter
End:
41,269,436 bp from pter
Size:
7,866 bases
Orientation:
plus strand

1 alternative location:
Chr20+ 44,519,105-44,527,459     
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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;
PDB structures from and Proteopedia :
1IVY (3D)    3BP4 (3D)    3BP7 (3D)    3BXN (3D)    
Secondary accessions: B2R798 Q561W6 Q5JZH1 Q96KJ2 Q9BR08 Q9BW68

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

REFSEQ proteins (3 alternative transcripts): 
NP_000299.2  NP_001121167.1  NP_001161066.1  


ENSEMBL proteins: 
ENSP00000361549 ENSP00000361562 ENSP00000346952 ENSP00000408533 ENSP00000191018 ENSP00000361537 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
R&D Systems Recombinant & Natural Proteins for CTSA (Cathepsin A/Lysosomal Carboxypeptidase A)
Browse recombinant and purified proteins available from Enzo Life Sciences
OriGene Purified Protein: CTSA
OriGene Protein Over-expression Lysate: CTSA
GenScript Custom Purified and Recombinant Proteins Services for CTSA 
Novus Biologicals Protein for CTSA
Novus Biologicals Lysates for CTSA
Sino Biological Recombinant Protein for CTSA
Browse ProSpec Recombinant Proteins

5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6):

GO IDQualified GO termEvidencePubMed IDs
GO:0005634 nucleus IDA18029348
GO:0005730NOT nucleolus IDA18029348
GO:0005739 mitochondrion IEA--
GO:0005764 lysosome NAS3136930
GO:0005783 endoplasmic reticulum TAS1387645
About this table

CTSA for ontologies           About GeneDecksing



Antibodies for CTSA: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for CTSA
R&D Systems Antibodies for CTSA (Cathepsin A/Lysosomal Carboxypeptidase A)
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for CTSA 
Novus Biologicals Antibodies for CTSA
Browse antibodies at Epitomics

Assays for CTSA: 
Browse Kits and Assays available from Millipore
Browse ELISAs at Sigma-Aldrich
OriGene Custom Immunoassay Development 
Browse OriGene Fluorogenic Cell Assay Kits 
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for CTSA 
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:
 IPR001563 Peptidase_S10
 IPR018202 Peptidase_S10_AS

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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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 Number (IUBMB): EC 3.4.16.5 

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CTSA
Sigma-Aldrich shRNA for CTSA
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CTSA
OriGene shRNA RFP (see all 3): CTSA
OriGene basic RS shRNA (see all 3): CTSA
OriGene siRNA (see all 3): CTSA
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CTSA 
miRNA:Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CTSA 
8/10 SABiosciences Assays for microRNAs that regulate CTSA (see all 10):
hsa-miR-519d hsa-miR-20a hsa-miR-148b hsa-miR-106a hsa-miR-106b hsa-miR-152 hsa-miR-93 hsa-miR-20b

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
Browse iPSC Reprogramming Factors at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CTSA
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): CTSA
OriGene untagged cDNA clones in CMV expression vector (see all 5): CTSA
OriGene 3'-UTR clone (see all 2): CTSA 
Browse MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for CTSA 
Sino Biological Human cDNA Clone for CTSA

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for CTSA 

5 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004180 carboxypeptidase activity TAS2244901
GO:0004185 serine-type carboxypeptidase activity IEA--
GO:0005515 protein binding IPI17353931
GO:0008047 enzyme activator activity TAS3107551
GO:0008233 peptidase activity IEA--
About this table

CTSA for ontologies           About GeneDecksing

Animal Models: 14 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ctsa):

behavior/neurologicalcardiovascular systemcellularcraniofacialgrowth/size
hematopoietic systemhomeostasis/metabolismimmune systemlife span-post-weaning/agingliver/biliary system
renal/urinary systemreproductive systemrespiratory systemskin/coat/nails

CTSA for phenotypes           About GeneDecksing


(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section


CTSA for pathways           About GeneDecksing

2 Kegg Pathways  (Kegg details for CTSA):
    hsa04142 Lysosome
hsa04614 Renin-angiotensin system

    SABiosciences Custom Pathway-Focused PCR Arrays for CTSA 

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CTSA

2 Interacting proteins for CTSA (P106191 ENSP000003615623) via UniProtKB, MINT, and/or STRING
InteractantInteraction Details
GeneCardExternal ID(s)
CTNNBIP1Q9NSA31EBI-989654,EBI-747082
--ENSP000003726703STRING: ENSP00000372670
About this table

2 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006508 proteolysis IEA--
GO:0006886 intracellular protein transport TAS1387645
About this table

CTSA for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

CTSA for compounds           About GeneDecksing

Browse Small Molecules at Sigma-Aldrich
Browse drugs & compounds from Enzo Life Sciences

Compounds for CTSA available from Tocris Bioscience
CompoundAction CAS number
MDL 28170 Potent, selective calpain and cathepsin B inhibitor [88191-84-8]
About this table


8 Novoseek chemical compound relationships for CTSA gene
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)
About this table



(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib.
RNA:
     
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CTSA
Sigma-Aldrich shRNA for CTSA
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CTSA
OriGene shRNA RFP (see all 3): CTSA
OriGene basic RS shRNA (see all 3): CTSA
OriGene siRNA (see all 3): CTSA
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CTSA 
miRNA: Browse microRNA Mimics at Sigma-Aldrich
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CTSA 
8/10 SABiosciences Assays for microRNAs that regulate CTSA (see all 10):
hsa-miR-519d hsa-miR-20a hsa-miR-148b hsa-miR-106a hsa-miR-106b hsa-miR-152 hsa-miR-93 hsa-miR-20b
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CTSA
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): CTSA
OriGene untagged cDNA clones in CMV expression vector (see all 5): CTSA
OriGene 3'-UTR Clone (see all 2): CTSA 
Browse OriGene MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for CTSA 
Primers: OriGene genome-wide validated SYBR primer pairs: CTSA
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for CTSA: PPH06128A

REFSEQ mRNAs for CTSA gene (3 alternative transcripts): 

NM_000308.2  NM_001127695.1  NM_001167594.1  

Additional cDNA sequence: 

AB209705.2 AF086236.1 AK097786.1 AK172808.1 AK304536.1 AK307701.1 AK312898.1 BC000597.2 
BC093009.1 CR590686.1 CR595889.1 CR596957.1 CR600724.1 CR605948.1 CR607706.1 CR608418.1 
CR609128.1 CR609734.1 CR611107.1 CR618673.1 CR621669.1 CR624913.1 CR625597.1 CR626192.1 
CR626418.1 M22960.1 

24/67 DOTS entries (see all 67):

DT.95269605  DT.91961729  DT.92466615  DT.100691619  DT.100691662  DT.95132974  DT.100039502  DT.92466574 
DT.100691691  DT.120817194  DT.100841836  DT.95351001  DT.40212852  DT.120817249  DT.100691652  DT.100691689 
DT.100691624  DT.120817704  DT.120817900  DT.95089035  DT.102842129  DT.120817781  DT.100039501  DT.120817333 

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

BQ679852 BM741142 BQ224890 BQ722761 BM818635 CR625597 BM742036 BX401765 
CF264688 CB155986 CB132944 BQ962933 AW440304 AF086236 BX090427 BU167941 
BI012582 BM557888 CR605948 BM759247 BF893855 CR611107 BM791455 AA486395 

highest scoring ESTs for CTSA:

AA022547 AA026619 AA026731 AA047118 AA074536 AA098950 AA126384 AA149957 AA150723 AA156965 

Unigene Cluster for CTSA:

Cathepsin A
Hs.609336  [show with all ESTs]
Unigene Representative Sequence: AK172808


GeneLoc Exon Structure

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

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:              -     -     -     -                             -                                                                                             

About this scheme

ECgene alternative splicing isoforms for CTSA
11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000372471(uc002xqk.3) ENST00000480961 ENST00000493522 ENST00000372484(uc002xqh.2 uc002xqj.3 uc002xqi.2 uc010zxi.1)
ENST00000354880 ENST00000419493 ENST00000484855 ENST00000191018 ENST00000485627
ENST00000372459 ENST00000477106

(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

CTSA expression in normal and diseased human tissues

1  / 2  / 3

3 probe-sets matching CTSA gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
39062_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AL008726 0.20 1.00 0.72 1
200661_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000308 0.60 1.00 0.82 1
200661_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table

CTSA for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
CTSA gene expression
CTSA gene electronic northern expression
CTSA gene sage expression
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.609336
Primers: OriGene genome-wide validated SYBR primer pairs: CTSA
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for CTSA: PPH06128A
    SABiosciences Custom PCR Arrays for CTSA 


(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CTSA gene from 5/21 species (see all 21)
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
CTSA1   -- cathepsin A 88.89(n)
89.76(a)
611146  XM_848790.1  XP_853883.1 
chimpanzee
(Pan troglodytes)
CTSA1   -- cathepsin A 99.53(n)
99.39(a)
458290  XM_001159669.1  XP_001159669.1 
cow
(Bos taurus)
CTSA1   -- cathepsin A 87.63(n)
88.89(a)
518169  NM_001035326.1  NP_001030403.1 
rat
(Rattus norvegicus)
Ppgb1   -- protective protein for beta-galactosidase 85.27(n)
85.35(a)
296370  NM_001011959.1  NP_001011959.1 
mouse
(Mus musculus)
Ctsa1 , 5 2 (85.27 cM)5
cathepsin A1, 5 86.18(n)1
87.8(a)1
190251  NM_008906.31  NP_032932.21 
 AA8161085  AI5914805  (see all 20)
About this table        Species with no ortholog for CTSA

ENSEMBL Gene Tree for CTSA (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for CTSA gene
CPVL2  

CTSA for paralogs           About GeneDecksing



(SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

10/84 NCBI SNPs in CTSA are shown (see all 84)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 20 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs256491,2
C,F,44526742(+) CTCACG/AATCAA 6 /T syn1 ref1 ese34Minor allele frequency- A:0.20MN NA WA 222
rs3969801,2
--44526486(+) GCTGTG/AGAGGA 3 -- int14Minor allele frequency- A:0.00EA NA MN 238
rs7420341,2
C,F,A,H,44522005(-) AGACCC/TGAGAT 3 -- int118Minor allele frequency- T:0.31NS EA NA WA 2612
rs18042121,2
--44526727(+) TCCCAA/CATCGC 6 Q H mis1 ref10--------
rs20759611,2
C,A,H,44523547(-) GCCCTT/CGCACA 3 -- int17Minor allele frequency- C:0.25NA EA WA 100
rs20759621,2
C,F,A,H,44523248(-) TCCCCG/AGCCTC 3 -- int113Minor allele frequency- A:0.35NS EA NA WA 636
rs20759631,2
C,F,A,H,44522953(-) gccacA/Gttgca 3 -- int19Minor allele frequency- G:0.36NA EA WA 224
rs32154461,2
C44523443(-) TGGGG-/GAATGG 3 -- int10--------
rs46085911,2
C,F,A,H,44523782(+) GGTTCT/CGTGGC 3 -- int121Minor allele frequency- C:0.32NS EA NA WA 1202
rs48104761,2
C,F,A,H,44522594(+) CCAGCG/AGCTGA 3 -- int112Minor allele frequency- A:0.31NS EA NA WA 594
About this table

HapMap Linkage Disequilibrium images for CTSA (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CTSA
     1 CNV: 50668

QIAGEN SeqTarget long-range PCR primers for resequencing CTSA 

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CTSA for disorders           About GeneDecksing

OMIM: 613111   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

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

    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)
    About this table

    Human Gene Mutation Database (HGMD): CTSA

    Export disorders and mutations for CTSA gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/137 PubMed articles for CTSA gene, integrated from 7 sources (see all 137):
    (articles sorted by number of sources associating them with CTSA)
    1. Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis. (PubMed id 10944848)1, 2, 7 Takiguchi K....Sakuraba H. (2000)
    2. Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. (PubMed id 8968752)1, 2, 7 Zhou X.Y....d'Azzo A. (1996)
    3. A peptidase in human platelets that deamidates tachykinins. Probable identity with the lysosomal 'protective protein'. (PubMed id 1694176)1, 2, 7 Jackman H.L.... Erdoes E.G. (1990)
    4. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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)
    7. 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)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    9. 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)
    10. 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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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5476 HGNC: 9251 AceView: PPGB Ensembl:ENSG00000064601 euGenes: HUgn5476
    ECgene: CTSA Kegg: 5476 H-InvDB: CTSA

    (According to HUGE)
    About This Section
      --

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTSA

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for CTSA gene:
    Search GeneIP for patents involving CTSA

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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     ELISAs and CLIAs for CTSA
           

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