CTSD

Gene Information
 
Gene Symbol
CTSD
 
Aliases
CLN10, CPSD, HEL-S-130P
 
Entrez Gene ID
 
Gene Name
Cathepsin D
 
Chromosomal Location
11p15.5
 
HGNC ID
 
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]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006508 Biological process Proteolysis IBA 21873635
GO:0006508 Biological process Proteolysis IDA 16997486
GO:0006508 Biological process Proteolysis IMP 17188016
GO:0030163 Biological process Protein catabolic process IBA 21873635
GO:0042159 Biological process Lipoprotein catabolic process IDA 16997486
Protein Information
 
Protein Name
Cathepsin D, ceroid-lipofuscinosis, neuronal 10, epididymis secretory sperm binding protein Li 130P, lysosomal aspartyl peptidase, lysosomal aspartyl protease
 
Function
Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation (PubMed:27333034). Involved in the pathogenesis of several diseases such as breast cancer and possibly Alzheimer disease.
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF07966 A1_Propeptide
PF00026 Asp
Pathways
 
KEGG
 
Reactome
 

Sphingolipid signaling pathway
Autophagy - animal
Lysosome
Apoptosis
Estrogen signaling pathway
Tuberculosis

 

Collagen degradation
Metabolism of Angiotensinogen to Angiotensins
MHC class II antigen presentation
Neutrophil degranulation
Estrogen-dependent gene expression

     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
Neuronal ceroid lipofuscinosis
PCOS
Immune System Diseases
Rheumatoid Arthritis
Musculoskeletal Diseases
Osteoarthrosis Deformans
Arthritis
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Apoptosis, coagulation, oxidative stress, lipid metabolism, the cytoskeleton, inflammatory and immune responses. Each of these biological functions absolutely play important roles in endometrial receptivity. 
 
Rotterdam ESHRE/ ASRM- sponsored PCOS consesus. 
Direct 
12 PCOS patients and 12 Healthy females 
Differences in the endometrial proteome of women with PCOS compared with healthy fertile women may explain the poor reproductive outcomes in PCOS women. Identified proteins are mainly involved in apoptosis, coagulation, oxidative stress, lipid metabolism, the cytoskeleton, inflammatory and immune responses. Each of these biological functions absolutely play important roles in endometrial receptivity. 

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