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 |
|---|---|---|---|---|---|
Namecathepsin D OMIM IDMIM:116840 Ensembl IDEnsembl:ENSG00000117984 HGNC IDHGNC:HGNC:2529 PHARMGKB IDPA27029 Map Location11p15.5 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CTSD
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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