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CTSD (Cathepsin D)

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Summary of CTSD

This gene encodes an enzyme called cathepsin D that can break down and activate proteins, and regulate self-destruction of the cell (R). 

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The Function of CTSD

Acid protease active in intracellular protein breakdown. Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.

Protein names

Recommended name:

Cathepsin D

CTSD SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS17571 (CTSD) ??

Top Gene-Substance Interactions

CTSD Interacts with These Diseases

Disease Score

Substances That Increase CTSD

Substances Interaction Organism Category

Substances That Decrease CTSD

Substances Interaction Organism Category

Advanced Summary

     congenital neuronal ceroid lipofuscinosis At least four mutations in the CTSD gene have been found to cause congenital neuronal ceroid lipofuscinosis (NCL). Congenital NCL is characterized by muscle rigidity, respiratory failure, severe seizures, and death in infancy. The CTSD gene mutations that cause congenital NCL lead to a complete lack of cathepsin D enzyme activity. As a result, proteins and other materials are not broken down properly. In the lysosomes, these substances accumulate into fatty substances called lipopigments. These accumulations occur in cells throughout the body, but neurons are likely particularly vulnerable to damage caused by the abnormal cell materials and the loss of cathepsin D function. Early and widespread cell death in congenital NCL leads to severe signs and symptoms and death in infancy.

     The CTSD gene provides instructions for making an enzyme called cathepsin D. Cathepsin D is one of a family of cathepsin proteins that act as proteases, which modify proteins by cutting them apart. Cathepsin D is found in many types of cells and is active in lysosomes, which are compartments within cells that digest and recycle different types of molecules. By cutting proteins apart, cathepsin D can break proteins down, turn on (activate) proteins, and regulate self-destruction of the cell (apoptosis). Cathepsin D is produced as an inactive enzyme, called a preproenzyme, which has extra protein segments attached. These segments must be removed, followed by additional processing steps, for the enzyme to become active.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • PPAR-gamma1
  • p53
  • Egr-1
  • AP-1
  • c-Jun
  • c-Fos
  • STAT1
  • STAT1beta
  • STAT1alpha

Tissue specificity:

Expressed in the aorta extrcellular space (at protein level).

Gene Pathways:

  • Immune System
  • Metabolism of proteins
  • Tuberculosis
  • Extracellular matrix organization
  • Lysosome

Molecular Function:

  • Aspartic-Type Endopeptidase Activity
  • Cysteine-Type Endopeptidase Activity
  • Serine-Type Endopeptidase Activity

Biological Processes:

  • Antigen Processing And Presentation Of Exogenous Peptide Antigen Via Mhc Class Ii
  • Autophagy
  • Collagen Catabolic Process
  • Protein Catabolic Process

Drug Bank:

  • Insulin Regular
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| LAP| Uncharacterized protein| CD| A306_03051| AS27_14445| AS28_03416| catD| cathepsin D1| cathepsin D (lysosomal aspartyl peptidase)| cathepsin D (lysosomal aspartyl protease)| cathepsin D preproprotein| CB1_000991001| ceroid-lipofuscinosis, neuronal 10| CLN10| CPSD| ctsd1| D623_10008847| epididymis secretory sperm binding protein Li 130P| etID16901.18| fb93e11| fj17b09| H920_10125| HEL-S-130P| lysosomal aspartyl peptidase| lysosomal aspartyl protease| M91_21281| M959_06705| MDA_GLEAN10004778| N300_06473| N301_03974| N302_13728| N303_00182| N305_09793| N306_09696| N307_13907| N308_12003| N309_11683| N310_04129| N311_01170| N312_03891| N320_04241| N321_03749| N322_05180| N324_09802| N325_09289| N326_07443| N327_05515| N329_03256| N332_08359| N333_08068| N334_00434| N335_10904| N336_09270| N339_10542| N340_08144| N341_03534| PAL_GLEAN10011195| PANDA_008874| prepro-cathepsin D, prepro-CD| UY3_13524| Y1Q_011259| Y956_06727| Z169_10599| ctsd

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