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Aliases for CTSD Gene

Aliases for CTSD Gene

  • Cathepsin D 2 3 5
  • EC 4 63
  • CPSD 3 4
  • 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
  • CLN10 3

External Ids for CTSD Gene

Previous HGNC Symbols for CTSD Gene

  • CPSD

Previous GeneCards Identifiers for CTSD Gene

  • GC11M001414
  • GC11M001847
  • GC11M001714
  • GC11M001738
  • GC11M001730
  • GC11M001768
  • GC11M001773
  • GC11M001564

Summaries for CTSD Gene

Entrez Gene Summary for CTSD Gene

  • This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light and heavy chains, which heterodimerize to form the mature enzyme. This enzyme exhibits pepsin-like activity and plays a role in protein turnover and in the proteolytic activation of hormones and growth factors. Mutations in this gene play a causal role in neuronal ceroid lipofuscinosis-10 and may be involved in the pathogenesis of several other diseases, including breast cancer and possibly Alzheimer's disease. [provided by RefSeq, Nov 2015]

GeneCards Summary for CTSD Gene

CTSD (Cathepsin D) is a Protein Coding gene. Diseases associated with CTSD include Ceroid Lipofuscinosis, Neuronal, 10 and Neuronal Ceroid Lipofuscinosis. Among its related pathways are p53 Pathway (RnD) and Peptide hormone metabolism. GO annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is REN.

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

Enhancers for CTSD Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CTSD on UCSC Golden Path with GeneCards custom track

Promoters for CTSD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CTSD on UCSC Golden Path with GeneCards custom track

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

Genes around CTSD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTSD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

  • N- and O-glycosylated.
  • Ubiquitination at Lys 28, Lys 54, Lys 184, and Lys 348
  • Glycosylation at Thr 63, Asn 134, and Asn 263
  • Modification sites at PhosphoSitePlus

Other Protein References for CTSD Gene

Antibody Products

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

Protein Products

Domains & Families 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



  • Contains 1 peptidase A1 domain.
  • Belongs to the peptidase A1 family.
  • Contains 1 peptidase A1 domain.
  • 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

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

Human Phenotype Ontology for CTSD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTSD Gene

MGI Knock Outs for CTSD:

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , 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:0042470 melanosome IEA --
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with CTSD: view

Pathways & Interactions for CTSD Gene

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

Gene Ontology (GO) - Biological Process for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006914 autophagy IBA --
genes like me logo Genes that share ontologies with CTSD: view

No data available for SIGNOR curated interactions for CTSD Gene

Drugs & Compounds for CTSD Gene

(59) Drugs for CTSD Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Insulin Regular Approved, Experimental, Investigational Pharma Target 0
Insulin, porcine Approved Pharma Target 0
Methylcysteine Experimental Pharma Target 0
1h-Benoximidazole-2-Carboxylic Acid Experimental Pharma Target 0

(59) Additional Compounds for CTSD Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
genes like me logo Genes that share compounds with CTSD: view

Transcripts for CTSD Gene

Unigene Clusters for CTSD Gene

Cathepsin D:
Representative Sequences:

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 differential expression in normal tissues according to GTEx for CTSD Gene

This gene is overexpressed in Whole Blood (x4.6).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines 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 expression patterns with CTSD: view

Protein tissue co-expression partners for CTSD Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CTSD Gene

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
rs17571 - 1,761,364(-) CCAGG(C/T)GGTGC reference, missense
VAR_029362 Ceroid lipofuscinosis, neuronal, 10 (CLN10)
VAR_029363 Ceroid lipofuscinosis, neuronal, 10 (CLN10)
rs147278302 - 1,754,122(+) CAGCC(C/T)GCTGG reference, missense
rs698450 -- 1,753,066(-) CCCCT(C/T)TGCCC 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

Variation tolerance for CTSD Gene

Residual Variation Intolerance Score: 20.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.35; 41.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTSD Gene

Human Gene Mutation Database (HGMD)

Disorders for CTSD Gene

MalaCards: The human disease database

(32) MalaCards diseases for CTSD Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 10
  • neuronal ceroid lipofuscinosis 10
neuronal ceroid lipofuscinosis
  • neuronal ceroid-lipofuscinoses
bone chondrosarcoma
laryngeal carcinoma
  • cancer of larynx
endometrial clear cell adenocarcinoma
  • clear cell carcinoma of endometrium
- elite association - COSMIC cancer census association via MalaCards
Search CTSD in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for CTSD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Tumor Gene Database (TGDB):
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CTSD: view

No data available for Genatlas for CTSD Gene

Publications for CTSD Gene

  1. Cloning and sequence analysis of cDNA for human cathepsin D. (PMID: 3927292) Faust P.L. … Chirgwin J.M. (Proc. Natl. Acad. Sci. U.S.A. 1985) 2 3 4 67
  2. Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease. (PMID: 19571726) Kovacs G.G. … Budka H. (Alzheimer Dis Assoc Disord 2010) 3 23
  3. Requirement of the human GARP complex for mannose 6-phosphate- receptor-dependent sorting of cathepsin D to lysosomes. (PMID: 18367545) Perez-Victoria F.J. … Bonifacino J.S. (Mol. Biol. Cell 2008) 3 23
  4. Cathepsin D protects human neuroblastoma cells from doxorubicin-induced cell death. (PMID: 18566016) Sagulenko V. … Westermann F. (Carcinogenesis 2008) 3 23
  5. Cathepsin D is the main lysosomal enzyme involved in the degradation of alpha-synuclein and generation of its carboxy-terminally truncated species. (PMID: 18702517) Sevlever D. … Yen S.H. (Biochemistry 2008) 3 23

Products for CTSD Gene

Sources for CTSD Gene