Aliases &
Descriptions
for CTSA gene
(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 |
Export aliases for CTSA gene to outside databasesPrevious GC identifers: GC20P043953 GC20P044519 |
Summaries
for CTSA gene(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 acomplex of high molecular weight multimers. The formation of this complex provides a protective role for stability andactivity. Deficiencies in this gene are linked to multiple forms of galactosialidosis. Alternatively splicedtranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq)
UniProtKB/Swiss-Prot: PPGB_HUMAN, P10619Function: Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, itassociates with these enzymes and exerts a protective function necessary for their stability and activity. Thisprotein 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) |
Genomic Views
for CTSA 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 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: 20q13.12CTSA Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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
|
Proteins
for CTSA gene
(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 Q9BW68Explore 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
5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6): About this table
CTSA for ontologies About GeneDecksing
Antibodies for CTSA:
Assays for CTSA: |
Protein
Domains/
Families
for CTSA gene(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:Graphical View of Domain Structure for InterPro Entry P10619ProtoNet protein and cluster: P10619 1 Blocks protein family: IPB001563 Serine carboxypeptidase (S10)
UniProtKB/Swiss-Prot: PPGB_HUMAN, P10619Similarity: Belongs to the peptidase S10 family |
Gene Function
for CTSA gene
(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, P10619Function: Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, itassociates with these enzymes and exerts a protective function necessary for their stability and activity. Thisprotein is also a carboxypeptidase and can deamidate tachykininsCatalytic activity: Release of a C-terminal amino acid with broad specificityEnzyme Number (IUBMB): EC 3.4.16.5
5 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
CTSA for ontologies About GeneDecksing
Animal Models: 14 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Ctsa):
CTSA for phenotypes About GeneDecksing
|
Pathways & Interactions
for CTSA gene
(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):
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 STRINGAbout this table
2 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
CTSA for ontologies About GeneDecksing
|
Drugs & Compounds
for CTSA gene(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
Compounds for CTSA available from Tocris Bioscience
| Compound | Action |
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
About this table
|
Transcripts
for CTSA gene(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
|
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
|
Expression
for CTSA gene
(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
About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.609336
SABiosciences Custom PCR Arrays for CTSA
|
Orthologs
for CTSA gene
(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)
About this table Species with no ortholog for CTSA
ENSEMBL Gene Tree for CTSA (if available) |
Paralogs
for CTSA gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for CTSA gene
- CPVL2
CTSA for paralogs About GeneDecksing
|
Genomic Variants
for CTSA gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 20 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap 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 |
|
Disorders & Mutations
for CTSA gene
(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 associatedwith a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patientshave clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebralchanges, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. Theearly infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and earlydeath. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and anormal 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)
About this table
Human Gene Mutation Database (HGMD): CTSA
Export disorders and mutations for CTSA gene to outside databases
|
Medical News
for CTSA gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for CTSA gene (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)- 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)
- 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)
- 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)
- 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)
|
External Searches for CTSA gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CTSA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CTSA gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CTSA gene(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
|
| Name | Description |
| GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTSA |
|
| | |
About This Section
| 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
|
Products
for CTSA gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
 | |
 |
| | | |
 |
 |
| | |
 |  |  |  | |
| |  | Tocris compounds for CTSA |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for CTSA |
| |
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