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Aliases & Descriptions for CTSD
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases CLN10 2 , 5 CPSD 2 , 3 , 5 EC 3.4.23.5 3 MGC2311 2
Descriptions cathepsin D 2 cathepsin D (lysosomal aspartyl protease) 1 lysosomal aspartyl peptidase 2 lysosomal aspartyl protease 2
Search outside databases for aliases for CTSD genePrevious GC identifers: GC11M001414 GC11M001847 GC11M001714 GC11M001738
Summaries for CTSD (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for CTSD : This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy andlight chains, both produced from a single protein precursor. This proteinase, which is a member ofthe peptidase C1 family, has a specificity similar to but narrower than that of pepsin A.Transcription of this gene is initiated from several sites, including one which is a start sitefor an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis ofseveral diseases, including breast cancer and possibly Alzheimer disease. [provided by RefSeq] UniProtKB/Swiss-Prot: CATD_HUMAN, P07339 Function : Acid protease active in intracellular protein breakdown. Involved in the pathogenesis ofseveral diseases such as breast cancer and possibly Alzheimer disease
Gene Wiki entry for CTSD (Cathepsin_D)
Genomic Location for CTSD
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the CTSD gene Entrez Gene cytogenetic band: 11p15.5 Ensembl cytogenetic band: 11p15.5 HGNC cytogenetic band: 11p15.5 CTSD 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 11 GeneLoc Exon Structure
GeneLoc location for GC11M001730:
(about GC identifiers )
Start:
1,730,561 bp from pter
End:
1,741,798 bp from pter
Size:
11,238 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000011.8 NT_009237.17 Proteins for CTSD
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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. Note=Identified by mass spectrometry in melanosomefractions from stage I to stage IV
PDB structures from and Proteopedia : 1LYA (3D)
 1LYB (3D)
 1LYW (3D)
 
Secondary accessions : Q6IB57
REFSEQ proteins: NP_001900.1 ENSEMBL proteins: ENSP00000236671 ENSP00000384947 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for CTSD: Invitrogen Antibodies for CTSD Millipore Mono- and Polyclonal Antibodies for the study of CTSD Sigma-Aldrich Antibody Arrays and Antibodies for CTSD R&D Systems Antibodies for CTSD (Cathepsin D) Cell Signaling Technology (CST) Antibodies for CTSD   (Cathepsin D) Antibodies from Abcam (Cathepsin D , proCathepsin D ), each with their Abpromise SM Monoclonal and Polyclonal Antibodies from Abnova (CTSD ) Novus Biologicals Antibodies for CTSD
Assays for CTSD:
Protein
Domains/ Families for CTSD(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P07339 ProtoNet protein and cluster: P07339
1 Blocks protein family : IPB001461 Pepsin (A1) aspartic protease family signature UniProtKB/Swiss-Prot: CATD_HUMAN, P07339 Similarity : Belongs to the peptidase A1 family
Gene Function for CTSD
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001909 Applied Biosystems Silencer ® siRNAs for CTSD Sigma-Aldrich siRNA and siRNA Panels for CTSD Sigma-Aldrich shRNA Panels and shRNA for CTSD Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001909                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001909                                  untagged cDNA clone in CMV expression vector: NM_001909  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001909 UniProtKB/Swiss-Prot: CATD_HUMAN, P07339 Function : Acid protease active in intracellular protein breakdown. Involved in the pathogenesis ofseveral diseases such as breast cancer and possibly Alzheimer disease Catalytic activity : Specificity similar to, but narrower than, that of pepsin A. Does not cleavethe 4-Gln- -His-5 bond in B chain of insulin Enzyme Number (IUBMB): EC 3.4.23.5
Genatlas biochemistry entry for CTSD :cathepsin D,major retinal pigment epithelial aspartic proteinase,lysosomal,cleaving procaspase3,ubiquitously expressed,involved in epidermal differentiation and major factor in the proteolysisof opsin,potentially recruited during apoptosis,bound to ceramide for proteolytic activity,at mosta mild risk factor for sporadic Alzheimer's disease,not decreased in age related maculopathy
11 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Ctsd) :2 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for CTSD
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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4 Sigma-Aldrich "Your Favorite Gene" Pathways for CTSD (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for CTSD 5/70 Interacting proteins for CTSD (ENSP00000236671 3 P07339 2 ) via UniProtKB, MINT, and/or STRING (see all 70
)About this table 2 Gene Ontology (GO) biological process terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0000045 autophagic vacuole formation
IEA -- GO:0006508 proteolysis
IEA --
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Drugs & Compounds for CTSD (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 )
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Enzo Life Sciences drugs & compounds for CTSD
Compounds for CTSD available from Tocris Bioscience 10/55 Novoseek chemical compound relationships for CTSD gene (see all 55
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
mannose 6-phosphate
85.86
40
12296771 (3), 18174267 (3), 1848227 (2), 8134116 (1) (see all 31 )
progesterone
71.24
158
7906196 (4), 9238685 (4), 11062111 (3), 7915829 (3) (see all 99 )
statine
58.86
2
10423175 (2)
3-(2,4-dinitroanilino)-3'-amino-n-methyldipropylamine
54.27
1
9278305 (1)
pepsinogen
41.40
5
2170024 (2), 1331083 (1), 8408210 (1)
estradiol
41.22
19
9271363 (3), 8920230 (2), 8137264 (1), 2222457 (1) (see all 15 )
steroid
40.42
43
1633322 (2), 1688438 (2), 9673387 (2), 8487052 (2) (see all 32 )
rennet
39.71
2
12464069 (2)
mannose
39.32
8
9694859 (2), 1848227 (1), 11300479 (1), 1660878 (1) (see all 7 )
3-methyladenine
31.55
3
16850182 (1)
About this table
Transcripts for CTSD(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
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 Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001909 Sigma-Aldrich siRNA and siRNA Panels for CTSD Sigma-Aldrich shRNA Panels and shRNA for CTSD Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_001909
REFSEQ mRNAs for CTSD gene: NM_001909.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001909
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001909                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001909                                  untagged cDNA clone in CMV expression vector: NM_001909  
Additional cDNA sequence: AK130178.1 BC001574.1 BC016320.2 BC036199.1 BT006910.1 BT020155.1 CR456947.1 CR597228.1 CR609839.1 CR612133.1 CR613410.1 CR623521.1 M11233.1 X05344.1
24/45 DOTS entries (see all 45
): DT.450575 DT.95090842 DT.97806869 DT.100889534 DT.100889548 DT.100889543 DT.95231629 DT.100889540 DT.95231802 DT.100889514 DT.92469315 DT.100039640 DT.100889517 DT.92042237 DT.108744 DT.91752367 DT.95317688 DT.100889520 DT.120699379 DT.95231735 DT.120699376 DT.91746087 DT.100889528 DT.95120527
24/1563 AceView cDNA sequences (see all 1563
):BM708319 BM694848 BF528084 BU191048 BQ672240 BC016320 CN482387 BX337990 BM759138 BG035861 AJ346214 CA489132 T29113 R84987 BM763542 BX476363 BU501886 BP355905 BM821219 AW732268 BG287247 BE907772 BU542022 F24168
highest scoring ESTs for CTSD :AA018954 AA074710 AA410697 AA433879 AI751896 AU119847 AW067770 AW403966 AW498958 AW630435
Unigene Clusters for CTSD: Cathepsin D Hs.121575 [show with all ESTs ] , Hs.654447 [show with all ESTs ] Unigene Representative Sequences: AK022293 , NM_001909 GeneLoc Exon Structure 5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CTSD (see all 6
) 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 :                                 -            
About this scheme ECgene alternative splicing isoforms for CTSD 2 Ensembl transcripts including schematic representations : ENST00000236671
ENST00000407742
Expression for CTSD
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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CTSD expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for CTSD 1 / 2 / 3
8 probe-sets matching CTSD gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene clusters: Hs.121575 Hs.654447 Expression variation in blood from EXPOLDB for CTSD
Orthologs for CTSD
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for CTSD gene from 5/23 species (see all 23
)
About this table Species with no ortholog for CTSD ENSEMBL Gene Tree for CTSD Paralogs for CTSD (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for CTSD gene NAPSB 2 BACE1 2 BACE2 2 NAPSA 2
SNPs/Variants for CTSD (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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UniProtKB/Swiss-Prot: CATD_HUMAN, P07339 Polymorphism : The Val-58 allele is significantly overrepresented in demented patients (11.8%)compared with non-demented controls (4.9%). Carriers of the Val-58 allele have a 3.1-foldincreased risk for developing AD than non-carriers
HapMap Linkage Disequilibrium images for CTSD (up to first 250kb)
Disorders & Mutations for CTSD
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 116840 disorders : 610127 UniProtKB/Swiss-Prot: CATD_HUMAN, P07339
Defects in CTSD are the cause of neuronal ceroid lipofuscinosis 10 (CLN10) [MIM:610127];also known as neuronal ceroid lipofuscinosis due to cathepsin D deficiency. The neuronal ceroidlipofuscinosis are a group of progressive neurodegenerative diseases in children and in adults,characterized by visual and mental decline, motor disturbance, epilepsy and behavioral changes
10/93 Novoseek disease relationships for CTSD gene (see all 93
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
breast cancer
79.45
418
8261461 (7), 9527695 (5), 8443752 (5), 9765021 (5) (see all 99 )
breast carcinoma
74.06
68
1332483 (3), 9701723 (3), 8410496 (3), 11753972 (3) (see all 46 )
metastasis
64.47
150
16033070 (6), 10562684 (5), 12140763 (4), 18433155 (4) (see all 96 )
carcinoma ductal
63.07
16
8816882 (2), 9683294 (2), 7906196 (1), 17996735 (1) (see all 13 )
tumors
61.97
425
1332483 (5), 8816882 (5), 9179261 (5), 8697388 (4) (see all 99 )
invasive ductal breast carcinoma
58.66
7
17908479 (2), 8291222 (1), 8225242 (1), 10503271 (1) (see all 6 )
neuronal ceroid lipofuscinoses
55.58
6
18091563 (2), 17495518 (1), 16670177 (1), 15837574 (1)
carcinoma
54.81
66
16033070 (4), 16244588 (3), 7540754 (3), 11474252 (2) (see all 42 )
alzheimers disease
53.18
68
1795881 (3), 15003956 (3), 10218883 (2), 7649217 (2) (see all 45 )
ductal breast carcinoma
52.17
3
11940423 (1), 18254778 (1), 10610231 (1)
About this table GeneTests: CTSD Neuronal Ceroid-Lipofuscinoses Human Gene Mutation Database : CTSD Genetic Association Database: CTSD Human Genome Epidemiology Navigator: CTSD (29 documents) Tumor Gene Database : CTSD Breast Cancer Gene Database : CTSD
Medical News for CTSD (Possibly Related Articles in
Doctor's Guide )
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--
Publications for CTSD (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/1010 PubMed articles for CTSD gene (see all 1010
): Cloning and sequence analysis of cDNA for human cathepsin D. (PubMed id 3927292) 2, 3, 4 Faust P.L.... Chirgwin J.M. (1985) Cathepsin D deficiency is associated with a human neurodegenerative disorder. (PubMed id 16685649) 1, 3, 4 Steinfeld R.... Gartner J. (2006) Association between cathepsin D polymorphism and Alzheimer's disease in a Chinese Han population. (PubMed id 15211064) 1, 3, 6 Li X.Q....Zhang J.W. (2004) Two crystal structures for cathepsin D: the lysosomal targeting signal and active site. (PubMed id 8467789) 1, 3, 4 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, 3, 6 Ntais C....Ioannidis J.P. (2004) Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease. (PubMed id 12147324) 1, 3, 6 Bagnoli S....Sorbi S. (2002) Non-replication of association between cathepsin D genotype and late onset Alzheimer disease. (PubMed id 11304834) 1, 3, 6 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, 3, 6 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, 3, 6 Capurso C....Panza F. (2005) Contribution of apolipoprotein E and cathepsin D genotypes to the familial aggregation of Alzheimer's disease. (PubMed id 15211070) 1, 3, 6 Heun R....Jessen F. (2004)
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Genome Databases showing CTSD
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing CTSD
(According to HUGE )
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Specialized Databases showing CTSD (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
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About This Section
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-- Services for CTSD (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for CTSD:
Antibodies & Assays for CTSD   (Cathepsin D)
Tocris compounds for CTSD
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009