CTSD Gene
protein-coding GIFtS: 73
GCID: GC11M001773
|
|
cathepsin D(Previous name: cathepsin D (lysosomal aspartyl protease) )
(Previous symbol: CPSD)
| |
Aliases
for CTSD gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cathepsin D1 2 | | Ceroid-Lipofuscinosis, Neuronal 102 | | CPSD1 2 3 5 | | Lysosomal Aspartyl Peptidase2 | | CLN101 2 5 | | Lysosomal Aspartyl Protease2 | | EC 3.4.23.53 8 | | EC 3.4.238 | | Cathepsin D (Lysosomal Aspartyl Protease)1 | | |
Export aliases for CTSD gene to outside databasesPrevious GC identifers: GC11M001414 GC11M001847 GC11M001714 GC11M001738 GC11M001730 GC11M001768 GC11M001564 |
Summaries
for CTSD gene(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 CTSD:
This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, bothproduced from a single protein precursor. This proteinase, which is a member of the peptidase C1 family, has aspecificity similar to but narrower than that of pepsin A. Transcription of this gene is initiated from several sites,including one which is a start site for an estrogen-regulated transcript. Mutations in this gene are involved in thepathogenesis of several diseases, including breast cancer and possibly Alzheimer disease. (provided by RefSeq, Jul2008)
UniProtKB/Swiss-Prot: CATD_HUMAN, P07339Function: Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseasessuch as breast cancer and possibly Alzheimer disease
Gene Wiki entry for CTSD (Cathepsin D)
|
Genomic Views
for CTSD 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000011.9 NC_018922.1 NT_009237.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CTSD gene promoter:
c-Fos PPAR-gamma1 AP-1 ATF-2 Egr-1 PPAR-gamma2 c-Jun
Other transcription factors
Search SABiosciences Chromatin IP Primers for CTSD
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTSD |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 11p15.5 Ensembl cytogenetic band: 11p15.5 HGNC cytogenetic band: 11p15.5CTSD Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11M001773: view genomic region
(about GC identifiers)
Start:
|
1,773,982 bp from pter |
End:
|
1,785,222 bp from pter |
Size:
|
11,241 bases |
Orientation:
|
minus strand |
|
Proteins
for CTSD gene
(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: CATD_HUMAN, P07339 (See
protein sequence)Recommended Name: Cathepsin D precursor Size: 412 amino acids; 44552 Da
Subunit: Consists of a light chain and a heavy chain
Subcellular location: Lysosome. Melanosome. Secreted, extracellular space. Note=Identified by mass spectrometry inmelanosome fractions from stage I to stage IV. In aortic samples, detected as an extracellular protein loosely boundto the matrix (PubMed:20551380)
3 PDB 3D structures from  and Proteopedia  for CTSD:1LYA (3D)
1LYB (3D)
1LYW (3D)
Secondary accessions: Q6IB57Explore the universe of human proteins at neXtProt for CTSD: NX_P07339
Post-translational modifications:
N- and O-glycosylated1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P07339
4/15 DME Specific Peptides for CTSD (P07339) (see all 15)
CTSD Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001900.1
ENSEMBL proteins: ENSP00000236671 ENSP00000404902 ENSP00000402586 ENSP00000415036 ENSP00000356164 Reactome Protein details: P07339
Human Recombinant Protein Products for CTSD:
Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table
CTSD for ontologies About GeneDecksing
CTSD Antibody Products:
Assay Products for CTSD: |
Protein
Domains /
Families
for CTSD gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CTSD for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P07339ProtoNet protein and cluster: P07339 1 Blocks protein family: IPB001461 Pepsin (A1) aspartic protease family signature
UniProtKB/Swiss-Prot: CATD_HUMAN, P07339Similarity: Belongs to the peptidase A1 family |
Function
for CTSD gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: CATD_HUMAN, P07339Function: Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseasessuch as breast cancer and possibly Alzheimer diseaseCatalytic activity: Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln- -His-5 bondin B chain of insulin Genatlas biochemistry entry for CTSD:cathepsin D,major retinal pigment epithelial aspartic proteinase,lysosomal,cleaving procaspase 3,ubiquitouslyexpressed,involved in epidermal differentiation and major factor in the proteolysis of opsin,potentially recruitedduring apoptosis,bound to ceramide for proteolytic activity,at most a mild risk factor for sporadic Alzheimer'sdisease,not decreased in age related maculopathy
Enzyme Numbers (IUBMB): EC 3.4.23.51 2 EC 3.4.232
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:0004190 | aspartic-type endopeptidase activity |
IEA | -- |
CTSD for ontologies About GeneDecksing
Phenotypes:
1 GenomeRNAi human phenotype for CTSD:
11 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Ctsd):
CTSD for phenotypes About GeneDecksing
Animal Models:
Mouse knock-out Ctsdtm1Cptr for CTSD
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 CTSD (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CTSD
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CTSD (NM_001909) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CTSD | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSD |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSD |
|
Pathways & Interactions
for CTSD gene
(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 - 5/20 super-pathways (see all 20) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Immune System | | | 2 | Degradation of the extracellular matrix | | | 3 | TNF-Induced Apoptosis Implicating Sphingolipids | | | 4 | Protein Stability | | | 5 | Apoptosis and Autophagy | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for CTSD
2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CTSD
2 
Cell Signaling Technology (CST) Pathways for CTSD
5  BioSystems Pathways for CTSD
5/10 
Reactome Pathways for CTSD (see all 10)
2 
Kegg Pathways (Kegg details for CTSD):
CTSD for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CTSD
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/72 Interacting proteins for CTSD (P073392, 3 ENSP000002366714) via UniProtKB, MINT, STRING, and/or I2D (see all 72)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000045 | autophagic vacuole assembly |
IEA | -- | | GO:0006508 | proteolysis |
IEA | -- | | GO:0008219 | cell death |
IEA | -- | | GO:0019886 | antigen processing and presentation of exogenous peptide antigen via MHC class II |
TAS | -- |
CTSD for ontologies About GeneDecksing
|
Drugs & Compounds
for CTSD gene(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
|
CTSD for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for CTSD |
 Browse Tocris compounds for CTSD
8 DrugBank Compounds for CTSD About this table
10/109 Novoseek chemical compound relationships for CTSD gene (see all 109) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| mannose 6-phosphate |
85.5 |
40 |
12296771 (3), 18174267 (3), 1848227 (2), 8134116 (1) (see all 31) |
| estrogen |
72.9 |
206 |
9230283 (7), 2295049 (4), 1633322 (3), 11062111 (3) (see all 99) |
| progesterone |
70.7 |
161 |
7906196 (4), 9238685 (4), 11062111 (3), 7915829 (3) (see all 99) |
| statine |
67.1 |
2 |
10423175 (2) |
| 3-(2,4-dinitroanilino)-3'-amino-n-methyldipropylamine |
53.8 |
1 |
9278305 (1) |
| 4-hydroxytamoxifen |
51.1 |
2 |
8344199 (2) |
| cysteine |
50.9 |
30 |
12617392 (2), 2403372 (1), 7575468 (1), 8817669 (1) (see all 27) |
| naphthazarin |
50.7 |
2 |
10641715 (2) |
| leupeptin |
48.3 |
2 |
1906526 (1), 10334387 (1) |
| nh4cl |
43.7 |
5 |
1531012 (1), 15532026 (1), 9560473 (1), 2167847 (1) |
Search CenterWatch for drugs/clinical trials and news about CTSD / CATD
|
Transcripts
for CTSD gene(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,
Sirion Biotech,
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 CTSD gene: NM_001909.4 Unigene Cluster for CTSD: Cathepsin D Hs.654447 [show with all ESTs]Unigene Representative Sequence: NM_0019096 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000236671(uc001luc.2) ENST00000433655 ENST00000429746 ENST00000497544
ENST00000438213 ENST00000367196
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CTSD (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CTSD
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CTSD (NM_001909) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CTSD | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSD |
Additional cDNA sequence: AK130178.1 BC001574.1 BC016320.2 BT006910.1 BT020155.1 CR456947.1 M11233.1 X05344.1 24/41 DOTS entries (see all 41): DT.450575 DT.95090842 DT.97806869 DT.100889534 DT.100889548 DT.100889543 DT.100889540 DT.95231629 DT.95231802 DT.100889514 DT.100039640 DT.92469315 DT.100889517 DT.100889520 DT.120699379 DT.95231735 DT.120699376 DT.100889528 DT.95120527 DT.75144118 DT.95231725 DT.121630069 DT.91746087 DT.92469330 24/1563 AceView cDNA sequences (see all 1563): BQ669640 BQ708791 BM832917 BM853242 BU188654 CD370029 BQ688270 BC016320 CA308616 R84987 BM786146 BM044356 BX360350 BQ182112 BG403774 BM698639 BX380784 BQ030236 BU174487 BI828439 BG475954 BQ683775 BQ679316 BU501886
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CTSD (see all 6) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b |
|---|
|
| SP1: | | | | | | | - | | - | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | - | | | | | | | | |
| SP2: | | | | | | | - | | - | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | - | | - | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for CTSD
|
Expression
for CTSD gene
(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
| CTSD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See CTSD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CTSD
SOURCE GeneReport for Unigene cluster: Hs.654447
UniProtKB/Swiss-Prot: CATD_HUMAN, P07339Tissue specificity: Expressed in the aorta extrcellular space (at protein level)
SABiosciences Expression via Pathway-Focused PCR Arrays including CTSD:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CTSD
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CTSD | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTSD | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTSD | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSD |
Orthologs
for CTSD gene
(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 CTSD gene from 9/35 species (see all 35) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
CTSD1 |
cathepsin D |
71.72(n)
69.95(a) |
|
396090 NM_205177.1 NP_990508.1 |
lizard
(Anolis carolinensis) |
Reptilia |
CTSD6 |
-- |
64(a) |
1 ↔ 1 |
1(70860513-70891458) |
African clawed frog
(Xenopus laevis) |
Amphibia |
LOC3985572 |
cathepsin D |
74.67(n) |
|
AB103479.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
ctsd2 |
cathepsin D |
76.91(n) |
|
65225 AJ278268.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
cathD1 , 3 |
cathepsin D3
CG1548-PA1 |
53(a)
(best of 9)3
60.95(n)1
55.84(a)1 |
|
43E183
452681 NM_143756.21 NP_652013.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
asp-41 , 3 |
aspartyl protease3
Protein ASP-41 |
58(a)
(best of 11)3
58.78(n)1
60.18(a)1 |
|
X(13254300-13256652)3
1814441 NM_077790.41 NP_510191.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
PEP4(YPL154C)4
PEP41 |
Vacuolar aspartyl protease (proteinase A), required more4
Pep4p1 |
49.18(n)1
43.67(a)1 |
|
16(260931-259714)4
8559491, 4 NP_015171.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
AT4G044601 |
phytepsin |
54.63(n)
50.45(a) |
|
825776 NM_116684.3 NP_192355.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.82982 |
Rice mRNA for aspartic protease, complete cds |
75.34(n) |
|
AK066453.1 |
ENSEMBL Gene Tree for CTSD (if available)
TreeFam Gene Tree for CTSD (if available) |
Paralogs
for CTSD gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CTSD gene
- BACE12 PGA32 BACE22 NAPSA2 ENSG000002506442 CTSE2 PGC2 PGA52
- ENSG000002659692 REN2 PGA42
8 SIMAP similar genes for CTSD using alignment to 5 protein entries: CATD_HUMAN (see all proteins):DKFZp666J2410 CTSE NAPSA REN PGA3 PGA5
PGA4 PGC
CTSD for paralogs About GeneDecksing
|
Genomic Variants
for CTSD gene(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
|
UniProtKB/Swiss-Prot: CATD_HUMAN, P07339Polymorphism: The Val-58 allele is significantly overrepresented in demented patients (11.8%) compared withnon-demented controls (4.9%). Carriers of the Val-58 allele have a 3.1-fold increased risk for developing AD thannon-carriers
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 11 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CTSD (1773982 - 1785222 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CTSD: --
Human Gene Mutation Database (HGMD): CTSD
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CTSD |
|
Disorders
/ Diseases
for CTSD gene
(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
|
CTSD for disorders About GeneDecksing
OMIM gene information: 116840
OMIM disorders: 610127
UniProtKB/Swiss-Prot: CATD_HUMAN, P07339
Defects in CTSD are the cause of neuronal ceroid lipofuscinosis type 10 (CLN10) [MIM:610127]; also known asneuronal ceroid lipofuscinosis due to cathepsin D deficiency. A form of neuronal ceroid lipofuscinosis with onset atbirth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseasescharacterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures,dementia, visual loss, and/or cerebral atrophy
20/155  diseases for CTSD (see all 155): About MalaCardsceroid lipofuscinosis neuronal 10 ceroid lipofuscinosis rosai-dorfman disease neuronal ceroid-lipofuscinoses
variant creutzfeldt-jakob disease breast cancer langerhans-cell histiocytosis alzheimer's disease
estrogen-receptor negative breast cancer atypical teratoid rhabdoid tumor neuronal ceroid-lipofuscinosis lysosomal storage disease
microglandular adenosis squamous cell carcinoma laryngeal squamous cell carcinoma temporal lobe epilepsy
hereditary cerebral hemorrhage with amyloidosis peptic ulcer neuronitis non-hodgkin lymphoma
5 diseases from the University of Copenhagen DISEASES database for CTSD:Breast cancer Neuronal ceroid lipofuscinosis Alzheimer's disease Carcinoma
Mucolipidosis 10/95 Novoseek disease relationships for CTSD gene (see all 95) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| breast cancer |
79.1 |
424 |
8261461 (7), 9527695 (5), 8443752 (5), 8385566 (5) (see all 99) |
| breast carcinoma |
73.2 |
68 |
1332483 (3), 9701723 (3), 8410496 (3), 11753972 (3) (see all 46) |
| metastasis |
64 |
151 |
16033070 (6), 10562684 (5), 12140763 (4), 18433155 (4) (see all 97) |
| carcinoma ductal |
62.2 |
16 |
8816882 (2), 9683294 (2), 7906196 (1), 17996735 (1) (see all 13) |
| tumors |
61.5 |
430 |
1332483 (5), 8816882 (5), 9179261 (5), 8697388 (4) (see all 99) |
| neuronal ceroid lipofuscinoses |
57.2 |
6 |
18091563 (2), 17495518 (1), 16670177 (1), 15837574 (1) |
| invasive ductal breast carcinoma |
56.8 |
7 |
17908479 (2), 8291222 (1), 8225242 (1), 10503271 (1) (see all 6) |
| carcinoma |
54.1 |
67 |
16033070 (4), 16244588 (3), 7540754 (3), 11474252 (2) (see all 42) |
| alzheimers disease |
52 |
69 |
1795881 (3), 15003956 (3), 10218883 (2), 7649217 (2) (see all 46) |
| ductal breast carcinoma |
50.9 |
3 |
11940423 (1), 18254778 (1), 10610231 (1) |
GeneTests: CTSD
Neuronal Ceroid-Lipofuscinoses
Genetic Association Database (GAD): CTSD
Human Genome Epidemiology (HuGE) Navigator: CTSD (42 documents)
Tumor Gene Database (TGDB): CTSD
Export disorders for CTSD gene to outside databases
|
Publications
for CTSD gene (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 CTSD gene, integrated from 9 sources (see all 1170):
(articles sorted by number of sources associating them with CTSD) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Cloning and sequence analysis of cDNA for human cathepsin D. (PubMed id 3927292)1, 2, 3 Faust P.L.... Chirgwin J.M. (1985)
- Cathepsin D deficiency is associated with a human neurodegenerative disorder. (PubMed id 16685649)1, 2, 9 Steinfeld R.... Gartner J. (2006)
- Association between cathepsin D polymorphism and Alzheimer's disease in a Chinese Han population. (PubMed id 15211064)1, 4, 9 Li X.Q....Zhang J.W. (2004)
- No evidence for genetic association or linkage of the cathepsin D (CTSD) exon 2 polymorphism and Alzheimer disease. (PubMed id 11198280)1, 4, 9 Bertram L....Tanzi R. (2001)
- Two crystal structures for cathepsin D: the lysosomal targeting signal and active site. (PubMed id 8467789)1, 2, 9 Metcalf P. and Fusek M. (1993)
- Meta-analysis of the association of the cathepsin D Ala224Val gene polymorphism with the risk of Alzheimer's disease: a HuGE gene-disease association review. (PubMed id 15003956)1, 4, 9 Ntais C....Ioannidis J.P. (2004)
- Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease. (PubMed id 12147324)1, 4, 9 Bagnoli S....Sorbi S. (2002)
- Non-replication of association between cathepsin D genotype and late onset Alzheimer disease. (PubMed id 11304834)1, 4, 9 Menzer G....Finckh U. (2001)
- [The C224T polymorphism in the cathepsin D gene is not associated with sporadic Alzheimer's disease in Chinese] (PubMed id 15843343)1, 4, 9 Sun Y....Li T. (2005)
- The cathepsin D gene exon 2 (C224T) polymorphism and sporadic Alzheimer's disease in European populations. (PubMed id 16127101)1, 4, 9 Capurso C....Panza F. (2005)
|
External Searches for CTSD gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CTSD gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CTSD gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CTSD gene(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
|
|
About This Section
| Patent Information for CTSD gene:
Search GeneIP for patents involving CTSD
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CTSD gene(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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section
|
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| | |  | OriGene Antibodies for CTSD | | OriGene shRNA RFP for CTSD | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTSD | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CTSD | | | OriGene Protein Over-expression Lysate for CTSD | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CTSD | | OriGene 3'-UTR Clone for CTSD | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CTSD | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CTSD | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CTSD | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CTSD | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTSD | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTSD | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTSD | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTSD |
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| | Antibodies & Assays for CTSD |
| | | | Search Tocris compounds for CTSD |
| |  |  |  |  | | | | | | Recombinant Protein for CTSD |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTSD |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTSD |
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