CTSD
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| cathepsin D | MIM:116840 | Ensembl:ENSG00000117984 | HGNC:HGNC:2529 | PA27029 | 11p15.5 |
GO terms in CTSD
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0006508 | proteolysis |
| BP | TAS | GO:0019886 | antigen processing and presentation of exogenous peptide antigen via MHC class II |
| BP | TAS | GO:0030574 | collagen catabolic process |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| CC | HDA | GO:0005576 | extracellular region |
| CC | NAS | GO:0005576 | extracellular region |
| CC | TAS | GO:0005576 | extracellular region |
| CC | HDA | GO:0005615 | extracellular space |
| CC | ISS | GO:0005615 | extracellular space |
| CC | IDA | GO:0005764 | lysosome |
| CC | TAS | GO:0035580 | specific granule lumen |
| CC | IEA | GO:0042470 | melanosome |
| CC | TAS | GO:0043202 | lysosomal lumen |
| CC | IDA | GO:0045121 | membrane raft |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | TAS | GO:1904724 | tertiary granule lumen |
| CC | TAS | GO:1904813 | ficolin-1-rich granule lumen |
| MF | IBA | GO:0004190 | aspartic-type endopeptidase activity |
| MF | TAS | GO:0004197 | cysteine-type endopeptidase activity |
| MF | TAS | GO:0004252 | serine-type endopeptidase activity |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: CTSD
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CTSD
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | ceramide_pathway | Ceramide signaling pathway |
| pid | era_genomic_pathway | Validated nuclear estrogen receptor alpha network |
| pid | lkb1_pathway | LKB1 signaling events |
| pid | p53downstreampathway | Direct p53 effectors |
| kegg | hsa04071 | Sphingolipid signaling pathway - Homo sapiens (human) |
| kegg | hsa04140 | Autophagy - animal - Homo sapiens (human) |
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
| kegg | hsa04210 | Apoptosis - Homo sapiens (human) |
| kegg | hsa04915 | Estrogen signaling pathway - Homo sapiens (human) |
| kegg | hsa05152 | Tuberculosis - Homo sapiens (human) |
| netpath | Pathway_Prolactin | Prolactin |
| humancyc | PWY-6241 | thyroid hormone biosynthesis |
| wikipathways | WP2037 | Prolactin Signaling Pathway |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-1442490 | Collagen degradation |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-2022377 | Metabolism of Angiotensinogen to Angiotensins |
| reactome | R-HSA-2132295 | MHC class II antigen presentation |
| reactome | R-HSA-2980736 | Peptide hormone metabolism |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
| reactome | R-HSA-8939211 | ESR-mediated signaling |
| reactome | R-HSA-9006931 | Signaling by Nuclear Receptors |
| reactome | R-HSA-9018519 | Estrogen-dependent gene expression |
| biocarta | mta3pathway | downregulated of mta-3 in er-negative breast tumors |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CTSD
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