Summary: 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].

cathepsin DMIM:116840Ensembl:ENSG00000117984HGNC:HGNC:2529PA2702911p15.5

Gene Categories:


GO terms in CTSD

Term TypeEvidence TypeGO Term IDGO Des.
BPTASGO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II
BPTASGO:0030574collagen catabolic process
BPTASGO:0043312neutrophil degranulation
CCHDAGO:0005576extracellular region
CCNASGO:0005576extracellular region
CCTASGO:0005576extracellular region
CCHDAGO:0005615extracellular space
CCISSGO:0005615extracellular space
CCTASGO:0035580specific granule lumen
CCTASGO:0043202lysosomal lumen
CCIDAGO:0045121membrane raft
CCHDAGO:0062023collagen-containing extracellular matrix
CCHDAGO:0070062extracellular exosome
CCTASGO:1904724tertiary granule lumen
CCTASGO:1904813ficolin-1-rich granule lumen
MFIBAGO:0004190aspartic-type endopeptidase activity
MFTASGO:0004197cysteine-type endopeptidase activity
MFTASGO:0004252serine-type endopeptidase activity
MFIPIGO:0005515protein binding

Gene expression in normal tissue: CTSD

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in CTSD

DatabasePathway IDPathway Des.
pidceramide_pathwayCeramide signaling pathway
pidera_genomic_pathwayValidated nuclear estrogen receptor alpha network
pidlkb1_pathwayLKB1 signaling events
pidp53downstreampathwayDirect p53 effectors
kegghsa04071Sphingolipid signaling pathway - Homo sapiens (human)
kegghsa04140Autophagy - animal - Homo sapiens (human)
kegghsa04142Lysosome - Homo sapiens (human)
kegghsa04210Apoptosis - Homo sapiens (human)
kegghsa04915Estrogen signaling pathway - Homo sapiens (human)
kegghsa05152Tuberculosis - Homo sapiens (human)
humancycPWY-6241thyroid hormone biosynthesis
wikipathwaysWP2037Prolactin Signaling Pathway
reactomeR-HSA-1280218Adaptive Immune System
reactomeR-HSA-1442490Collagen degradation
reactomeR-HSA-1474228Degradation of the extracellular matrix
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-168249Innate Immune System
reactomeR-HSA-168256Immune System
reactomeR-HSA-2022377Metabolism of Angiotensinogen to Angiotensins
reactomeR-HSA-2132295MHC class II antigen presentation
reactomeR-HSA-2980736Peptide hormone metabolism
reactomeR-HSA-392499Metabolism of proteins
reactomeR-HSA-6798695Neutrophil degranulation
reactomeR-HSA-8939211ESR-mediated signaling
reactomeR-HSA-9006931Signaling by Nuclear Receptors
reactomeR-HSA-9018519Estrogen-dependent gene expression
biocartamta3pathwaydownregulated of mta-3 in er-negative breast tumors

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in CTSD