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Aliases for CTSD Gene

Aliases for CTSD Gene

  • Cathepsin D 2 3 5
  • Ceroid-Lipofuscinosis, Neuronal 10 2 3
  • EC 4 61
  • CPSD 3 4
  • Epididymis Secretory Sperm Binding Protein Li 130P 3
  • Cathepsin D (Lysosomal Aspartyl Protease) 2
  • Lysosomal Aspartyl Peptidase 3
  • Lysosomal Aspartyl Protease 3
  • HEL-S-130P 3
  • EC 3.4.23 61
  • 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 Tuberculosis and p53 Pathway (RnD). GO annotations related to this gene include aspartic-type endopeptidase activity. An important paralog of this gene is ENSG00000250644.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

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

Genomic Location for CTSD Gene

1,752,752 bp from pter
1,764,573 bp from pter
11,822 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

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

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

Gene Ontology (GO) - Molecular Function for CTSD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004190 aspartic-type endopeptidase activity IEA --
GO:0004197 cysteine-type endopeptidase activity TAS --
GO:0004252 serine-type endopeptidase activity TAS --
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

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

CRISPR Products

Inhibitory RNA Products

Clone 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 & 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:0006508 proteolysis IEA --
GO:0006914 autophagy IBA --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
GO:0030163 protein catabolic process IBA --
GO:0030574 collagen catabolic process TAS --
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

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

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

(55) 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

(4) ApexBio Compounds for CTSD Gene

Compound Action Cas Number
Cathepsin Inhibitor 1 Cathepsin inhibitor 225120-65-0
E 64d Cysteine protease inhibitor 88321-09-9
E-64 Cysteine protease inhibitor,irriversible 66701-25-5
E-64-c Inhibitor of cysteine proteinases 76684-89-4
genes like me logo Genes that share compounds with CTSD: view

Transcripts for CTSD Gene

Unigene Clusters for CTSD Gene

Cathepsin D:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 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, MaxQB, and MOPED for CTSD Gene

Protein tissue co-expression partners for CTSD Gene

NURSA nuclear receptor signaling pathways regulating expression of CTSD Gene:


SOURCE GeneReport for Unigene cluster for CTSD Gene:


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

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 34
  • 85.74 (n)
  • 84.28 (a)
  • 83 (a)
(Canis familiaris)
Mammalia CTSD 34
  • 87.72 (n)
  • 88.54 (a)
  • 89 (a)
(Mus musculus)
Mammalia Ctsd 34
  • 81.19 (n)
  • 84.28 (a)
Ctsd 16
Ctsd 35
  • 81 (a)
(Rattus norvegicus)
Mammalia Ctsd 34
  • 81.69 (n)
  • 84.72 (a)
(Ornithorhynchus anatinus)
Mammalia CTSD 35
  • 72 (a)
(Gallus gallus)
Aves CTSD 34
  • 72.53 (n)
  • 71.2 (a)
  • 69 (a)
(Anolis carolinensis)
Reptilia CTSD 35
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101735147 34
  • 71.18 (n)
  • 73.85 (a)
MGC76043 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398557 34
(Danio rerio)
Actinopterygii ctsd 34
  • 68 (n)
  • 69.07 (a)
ctsd 35
  • 65 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11433 34
fruit fly
(Drosophila melanogaster)
Insecta cathD 36
  • 53 (a)
CG10104 36
  • 44 (a)
CG13095 36
  • 45 (a)
CG17134 36
  • 44 (a)
CG17283 36
  • 39 (a)
CG5860 36
  • 36 (a)
CG5863 36
  • 40 (a)
CG6508 36
  • 44 (a)
pcl 36
  • 39 (a)
cathD 34
  • 61.9 (n)
  • 56.59 (a)
cathD 35
  • 55 (a)
CG10104 35
  • 43 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003277 34
  • 62.39 (n)
  • 59.84 (a)
(Caenorhabditis elegans)
Secernentea asp-2 36
  • 31 (a)
asp-3 36
  • 44 (a)
asp-4 36
  • 58 (a)
asp-5 36
  • 33 (a)
asp-6 36
  • 34 (a)
C11D2.2 36
  • 33 (a)
F21F8.4 36
  • 31 (a)
F28A12.4 36
  • 30 (a)
F59D6.2 36
  • 29 (a)
F59D6.3 36
  • 28 (a)
Y39B6A.21 36
  • 32 (a)
asp-4 34
  • 58.78 (n)
  • 60.18 (a)
asp-4 35
  • 48 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D05929g 34
  • 49.8 (n)
  • 45 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEP4 34
  • 51.19 (n)
  • 47.32 (a)
PEP4 35
  • 40 (a)
PEP4 37
thale cress
(Arabidopsis thaliana)
eudicotyledons APA1 34
  • 56.26 (n)
  • 53.15 (a)
(Glycine max)
eudicotyledons Gma.286 34
(Hordeum vulgare)
Liliopsida Hv.535 34
(Oryza sativa)
Liliopsida Os.8298 34
Os01g0663400 34
  • 57.59 (n)
  • 52.44 (a)
(Zea mays)
Liliopsida Zm.3415 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1295 34
bread mold
(Neurospora crassa)
Ascomycetes NCU02273 34
  • 55.99 (n)
  • 48.8 (a)
Species where no ortholog for CTSD was found in the sources mined by GeneCards:
  • 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
rs121912789 Ceroid lipofuscinosis, neuronal, 10 (CLN10) 1,757,343(-) ACATC(A/T)TCTCC reference, missense
rs121912790 Ceroid lipofuscinosis, neuronal, 10 (CLN10) 1,753,593(-) CTCTG(C/G)ATCCT reference, missense
rs147278302 - 1,754,122(+) CAGCC(C/T)GCTGG reference, missense
rs1050822 -- 1,753,161(-) CTCCC(C/G)GGCCC utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv1564n54 CNV loss 21841781
esv1293972 CNV insertion 17803354
nsv467645 CNV gain 19166990
nsv553047 CNV gain 21841781
nsv7642 CNV insertion 18451855
nsv832049 CNV loss 17160897

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for CTSD Gene

MalaCards: The human disease database

(25) 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
  • hereditary ceroid lipofuscinosis
colonic disease
  • colon disorder
bone chondrosarcoma
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. Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease. (PMID: 19571726) Kovacs G.G. … Budka H. (Alzheimer Dis Assoc Disord 2010) 3 22 46 65
  2. Influence and interactions of cathepsin D, HLA-DRB1 and APOE on cognitive abilities in an older non-demented population. (PMID: 16417614) Payton A. … Pendleton N. (Genes Brain Behav. 2006) 3 22 46 65
  3. Cathepsin D deficiency is associated with a human neurodegenerative disorder. (PMID: 16685649) Steinfeld R. … Gartner J. (Am. J. Hum. Genet. 2006) 3 4 22 65
  4. Association between cathepsin D polymorphism and Alzheimer's disease in a Chinese Han population. (PMID: 15211064) Li X.Q. … Zhang J.W. (Dement Geriatr Cogn Disord 2004) 3 22 46 65
  5. Simultaneous analysis of five genetic risk factors in Polish patients with Alzheimer's disease. (PMID: 12782337) Styczynska M. … Barcikowska M. (Neurosci. Lett. 2003) 3 22 46 65

Products for CTSD Gene

Sources for CTSD Gene

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