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Aliases for CTSD Gene

Aliases for CTSD Gene

  • Cathepsin D 2 3
  • CPSD 3 4 6
  • EC 4 63
  • CLN10 3 6
  • Epididymis Secretory Sperm Binding Protein Li 130P 3
  • Cathepsin D (Lysosomal Aspartyl Protease) 2
  • Ceroid-Lipofuscinosis, Neuronal 10 3
  • Lysosomal Aspartyl Peptidase 3
  • Lysosomal Aspartyl Protease 3
  • Ceroid-Lipofuscinosis 2
  • Neuronal 10 2
  • HEL-S-130P 3
  • EC 3.4.23 63

External Ids for CTSD Gene

Previous HGNC Symbols for CTSD Gene

  • CPSD

Previous GeneCards Identifiers for CTSD Gene

  • GC11M001414
  • GC11M001847
  • GC11M001714
  • GC11M001738
  • GC11M001730
  • GC11M001768
  • GC11M001564

Summaries for CTSD Gene

Entrez Gene Summary for CTSD Gene

  • This gene encodes a lysosomal aspartyl protease composed of a dimer of disulfide-linked heavy and light chains, both produced from a single protein precursor. This proteinase, which is a member of the 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 site for an estrogen-regulated transcript. Mutations in this gene are involved in the pathogenesis of several diseases, including breast cancer and possibly Alzheimer disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for CTSD Gene

CTSD (Cathepsin D) is a Protein Coding gene. Diseases associated with CTSD include ceroid lipofuscinosis, neuronal, 10 and congenital neuronal ceroid lipofuscinosis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Degradation of the extracellular matrix. GO annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is BACE1.

UniProtKB/Swiss-Prot for CTSD Gene

  • Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease

Gene Wiki entry for CTSD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTSD Gene

Genomics for CTSD Gene

Regulatory Elements for CTSD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CTSD Gene

1,752,752 bp from pter
1,763,992 bp from pter
11,241 bases
Minus strand

Genomic View for CTSD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CTSD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTSD Gene

Proteins for CTSD Gene

  • Protein details for CTSD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cathepsin D
    Protein Accession:
    Secondary Accessions:
    • Q6IB57

    Protein attributes for CTSD Gene

    412 amino acids
    Molecular mass:
    44552 Da
    Quaternary structure:
    • Consists of a light chain and a heavy chain

    Three dimensional structures from OCA and Proteopedia for CTSD Gene

neXtProt entry for CTSD Gene

Proteomics data for CTSD Gene at MOPED

Post-translational modifications for CTSD Gene

Other Protein References for CTSD Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CTSD (CTSD)

Protein Products

Domains for CTSD Gene

Gene Families for CTSD Gene

Suggested Antigen Peptide Sequences for CTSD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase A1 family.
  • Belongs to the peptidase A1 family.
genes like me logo Genes that share domains with CTSD: view

Function for CTSD Gene

Molecular function for CTSD Gene

GENATLAS Biochemistry:
cathepsin D,major retinal pigment epithelial aspartic proteinase,lysosomal,cleaving procaspase 3,ubiquitously expressed,involved in epidermal differentiation and major factor in the proteolysis of opsin,potentially recruited during apoptosis,bound to ceramide for proteolytic activity,at most a mild risk factor for sporadic Alzheimers disease,not decreased in age related maculopathy
UniProtKB/Swiss-Prot CatalyticActivity:
Specificity similar to, but narrower than, that of pepsin A. Does not cleave the 4-Gln- -His-5 bond in B chain of insulin
UniProtKB/Swiss-Prot Function:
Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease

Enzyme Numbers (IUBMB) for CTSD Gene

Gene Ontology (GO) - Molecular Function for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity IEA --
GO:0005515 protein binding IPI 17112520
genes like me logo Genes that share ontologies with CTSD: view
genes like me logo Genes that share phenotypes with CTSD: view

Animal Models for CTSD Gene

MGI Knock Outs for CTSD:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CTSD

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CTSD Gene

Localization for CTSD Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTSD Gene

Lysosome. Melanosome. Secreted, extracellular space. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In aortic samples, detected as an extracellular protein loosely bound to the matrix (PubMed:20551380). {ECO:0000269 PubMed:20551380}.

Subcellular locations from

Jensen Localization Image for CTSD Gene COMPARTMENTS Subcellular localization image for CTSD gene
Compartment Confidence
extracellular 5
lysosome 5
vacuole 5
cytosol 3
endosome 3
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
nucleus 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space ISS 22261194
GO:0005764 lysosome IDA 1837142
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
GO:0042470 melanosome IEA --
genes like me logo Genes that share ontologies with CTSD: view

Pathways for CTSD Gene

genes like me logo Genes that share pathways with CTSD: view

PCR Array Products

Gene Ontology (GO) - Biological Process for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0008219 cell death --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030198 extracellular matrix organization TAS --
genes like me logo Genes that share ontologies with CTSD: view

Drugs for CTSD Gene

(7) Drugbank Compounds for CTSD Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
Insulin Regular
  • Insulin human
11061-68-0 Target approved, experimental, investigational
Insulin, porcine
9004-14-2 Target approved
1h-Benoximidazole-2-Carboxylic Acid
233240 Target experimental
6323244 Target experimental
Target experimental

(2) HMDB Compounds for CTSD Gene

Compound Synonyms Cas Number PubMed IDs
  • (+)-mannose
  • 3-(Methylthio)-L-(8CI)alanine

(109) Novoseek inferred chemical compound relationships for CTSD Gene

Compound -log(P) Hits PubMed IDs
mannose 6-phosphate 85.5 36
estrogen 72.9 137
progesterone 70.7 126
statine 67.1 2
3-(2,4-dinitroanilino)-3-amino-n-methyldipropylamine 53.8 1
genes like me logo Genes that share compounds with CTSD: view

Transcripts for CTSD Gene

Unigene Clusters for CTSD Gene

Cathepsin D:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CTSD

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTSD Gene

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: -

Relevant External Links for CTSD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CTSD Gene

mRNA expression in normal human tissues for CTSD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CTSD Gene

This gene is overexpressed in Whole Blood (4.6).

Protein differential expression in normal tissues for CTSD Gene

This gene is overexpressed in Adrenal (10.9), Nasal epithelium (6.4), and Bone marrow stromal cell (6.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CTSD Gene

SOURCE GeneReport for Unigene cluster for CTSD Gene Hs.654447

mRNA Expression by UniProt/SwissProt for CTSD Gene

Tissue specificity: Expressed in the aorta extrcellular space (at protein level).
genes like me logo Genes that share expressions with CTSD: view

Expression partners for CTSD Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for CTSD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTSD Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CTSD 35
  • 85.74 (n)
  • 84.28 (a)
  • 83 (a)
(Canis familiaris)
Mammalia CTSD 35
  • 87.72 (n)
  • 88.54 (a)
  • 89 (a)
(Mus musculus)
Mammalia Ctsd 35
  • 81.19 (n)
  • 84.28 (a)
Ctsd 16
Ctsd 36
  • 81 (a)
(Rattus norvegicus)
Mammalia Ctsd 35
  • 81.69 (n)
  • 84.72 (a)
(Ornithorhynchus anatinus)
Mammalia CTSD 36
  • 72 (a)
(Gallus gallus)
Aves CTSD 35
  • 72.53 (n)
  • 71.2 (a)
  • 69 (a)
(Anolis carolinensis)
Reptilia CTSD 36
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101735147 35
  • 71.18 (n)
  • 73.85 (a)
MGC76043 35
African clawed frog
(Xenopus laevis)
Amphibia LOC398557 35
(Danio rerio)
Actinopterygii ctsd 35
  • 68 (n)
  • 69.07 (a)
ctsd 36
  • 65 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11433 35
fruit fly
(Drosophila melanogaster)
Insecta cathD 37
  • 53 (a)
CG10104 37
  • 44 (a)
CG13095 37
  • 45 (a)
CG17134 37
  • 44 (a)
CG17283 37
  • 39 (a)
CG5860 37
  • 36 (a)
CG5863 37
  • 40 (a)
CG6508 37
  • 44 (a)
pcl 37
  • 39 (a)
cathD 35
  • 61.9 (n)
  • 56.59 (a)
cathD 36
  • 55 (a)
CG10104 36
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003277 35
  • 62.39 (n)
  • 59.84 (a)
(Caenorhabditis elegans)
Secernentea asp-2 37
  • 31 (a)
asp-3 37
  • 44 (a)
asp-4 37
  • 58 (a)
asp-5 37
  • 33 (a)
asp-6 37
  • 34 (a)
C11D2.2 37
  • 33 (a)
F21F8.4 37
  • 31 (a)
F28A12.4 37
  • 30 (a)
F59D6.2 37
  • 29 (a)
F59D6.3 37
  • 28 (a)
Y39B6A.21 37
  • 32 (a)
asp-4 35
  • 58.78 (n)
  • 60.18 (a)
asp-4 36
  • 48 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05929g 35
  • 49.8 (n)
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP4 35
  • 51.19 (n)
  • 47.32 (a)
PEP4 36
  • 40 (a)
PEP4 38
thale cress
(Arabidopsis thaliana)
eudicotyledons APA1 35
  • 56.26 (n)
  • 53.15 (a)
(Glycine max)
eudicotyledons Gma.286 35
(Hordeum vulgare)
Liliopsida Hv.535 35
(Oryza sativa)
Liliopsida Os.8298 35
Os01g0663400 35
  • 57.59 (n)
  • 52.44 (a)
(Zea mays)
Liliopsida Zm.3415 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1295 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02273 35
  • 55.99 (n)
  • 48.8 (a)
Species with no ortholog for CTSD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTSD Gene

Gene Tree for CTSD (if available)
Gene Tree for CTSD (if available)

Paralogs for CTSD Gene

Paralogs for CTSD Gene

(8) SIMAP similar genes for CTSD Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CTSD: view

Variants for CTSD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CTSD Gene

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-fold increased risk for developing AD than non-carriers

Sequence variations from dbSNP and Humsavar for CTSD Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs8839 -- 1,752,906(-) GAGCC(A/C/T)GTCCC utr-variant-3-prime
rs12214 -- 1,753,436(-) GGCCC(A/G)GCGGC utr-variant-3-prime
rs17571 Likely benign, - 1,761,364(-) CCAGG(C/T)GGTGC reference, missense
rs698452 -- 1,752,945(-) AACCC(A/C)CCTTG utr-variant-3-prime
rs698453 -- 1,752,829(-) GACCT(C/T)TGTTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CTSD Gene

Variant ID Type Subtype PubMed ID
nsv896727 CNV Gain 21882294
nsv896728 CNV Gain 21882294
nsv832049 CNV Loss 17160897
nsv896731 CNV Loss 21882294
nsv896732 CNV Loss 21882294
nsv467645 CNV Gain 19166990
nsv896733 CNV Loss 21882294
nsv7642 CNV Insertion 18451855
nsv896734 CNV Loss 21882294
nsv896735 CNV Loss 21882294
nsv896736 CNV Loss 21882294
esv1293972 CNV Insertion 17803354

Relevant External Links for CTSD Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for CTSD Gene

(1) OMIM Diseases for CTSD Gene (116840)


  • Ceroid lipofuscinosis, neuronal, 10 (CLN10) [MIM:610127]: A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. {ECO:0000269 PubMed:16670177, ECO:0000269 PubMed:16685649, ECO:0000269 PubMed:21990111}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for CTSD Gene

(95) Novoseek inferred disease relationships for CTSD Gene

Disease -log(P) Hits PubMed IDs
breast cancer 79.1 248
breast carcinoma 73.2 66
metastasis 64 136
carcinoma ductal 62.2 15
tumors 61.5 212

Relevant External Links for CTSD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Tumor Gene Database (TGDB):
genes like me logo Genes that share disorders with CTSD: view

No data available for Genatlas for CTSD Gene

Publications for CTSD Gene

  1. Two crystal structures for cathepsin D: the lysosomal targeting signal and active site. (PMID: 8467789) Metcalf P. … Fusek M. (EMBO J. 1993) 3 4 23
  2. A genetic variation of cathepsin D is a major risk factor for Alzheimer's disease. (PMID: 10716266) Papassotiropoulos A. … Heun R. (Ann. Neurol. 2000) 3 4 23
  3. No evidence for genetic association or linkage of the cathepsin D (CTSD) exon 2 polymorphism and Alzheimer disease. (PMID: 11198280) Bertram L. … Tanzi R. (Ann. Neurol. 2001) 3 23 48
  4. Lack of replication of association findings in complex disease: an analysis of 15 polymorphisms in prior candidate genes for sporadic Alzheimer's disease. (PMID: 11436125) Prince J.A. … Brookes A.J. (Eur. J. Hum. Genet. 2001) 3 23 48
  5. Non-replication of association between cathepsin D genotype and late onset Alzheimer disease. (PMID: 11304834) Menzer G. … Finckh U. (Am. J. Med. Genet. 2001) 3 23 48

Products for CTSD Gene

Sources for CTSD Gene

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