CTSD

CTSD Gene 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]

Details

Type
Protein Coding
Official Symbol
CTSD
Official Name
cathepsin D [Source:HGNC Symbol;Acc:HGNC:2529]
Ensembl ID
ENSG00000117984
Bio databases IDs NCBI: 1509 Ensembl: ENSG00000117984
Aliases cathepsin D, ceroid-lipofuscinosis, neuronal 10
Synonyms
CATD,Cathepsin D,CD,CLN10,CPSD,EAI,HEL-S-130P,LOC196214
Species
Human, homo_sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Xylanase inhibitor N-terminal
  • peptide binding
  • peptidase
  • signal peptide
  • Cellular and retroviral pepsin-like aspartate proteases
  • protein binding
  • enzyme
  • cathepsin D
  • A1 Propeptide
  • endopeptidase
  • cysteine endopeptidase
  • aspartic endopeptidase
  • hydrolase
  • Xylanase inhibitor C-terminal
  • Eukaryotic aspartyl protease

Pathways

Biological processes and signaling networks where the CTSD gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • PTEN
  • APOE
  • ESR1
  • EGFR
  • ESR2
  • BAP1
  • MYC
  • LRP2
  • TGOLN2
  • TP53
disease
  • cancer
  • breast cancer
  • breast carcinoma
  • gastric adenocarcinoma
  • epithelial cancer
  • diabetes mellitus
  • cutaneous sarcoidosis
  • Alzheimer disease
  • seizures
  • organismal death
regulated by
  • APOE
  • APP
  • D-glucose
  • hydrogen peroxide
  • CDC42
  • LIPA
  • TNF
  • heavy metal
  • TFE3
  • SOAT1
regulates
  • CASP8
  • CASP3
  • HTT
  • insulin
  • AGT
  • IL6
  • reactive oxygen species
  • TNF
  • ABCA1
  • APOE
role in cell
  • apoptosis
  • cell death
  • molecular cleavage in
  • activation in
  • colony formation
  • cell viability
  • expression in
  • degradation in
  • proliferation
  • growth

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • lysosome fractions
  • membrane fraction
  • pH resistant lipid raft fraction
  • multivesicular domain
  • secretory granule lumen
  • ficolin-1-rich granule lumen
  • cell surface
  • Extracellular Space
  • perinuclear region
  • organelle lumens
  • cellular membrane
  • vacuole
  • Plasma Membrane
  • endosomes
  • vesicles
  • lysosome
  • granules
  • cytosol
  • MHC class II compartments
  • endoplasmic reticulum lumen
  • pre-lysosomal compartments
  • endosome-lysosome compartments
  • lysosome membrane
  • lysosomal compartment
  • endosomal compartment
  • endosomal membrane
  • synapse
  • cytotoxic granule
  • late endosomes
  • cytoplasmic vesicles
  • secretory vesicles
  • azurophil granules
  • rough endoplasmatic reticulum
  • membrane rafts
  • perikaryon
  • Golgi vesicles
  • phagosomes
  • plasma
  • detergent-soluble fraction
  • paraspeckle-like structures
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the CTSD gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
  • autophagic vacuole assembly
  • proteolysis
  • positive regulation of apoptotic process
  • insulin receptor recycling
  • regulation of establishment of protein localization
  • antigen processing and presentation of exogenous peptide antigen via MHC class II
  • lipoprotein catabolic process

CELLULAR COMPONENT

Where in the cell the gene product is active
  • extracellular space
  • extracellular vesicular exosome
  • melanosome
  • specific granule lumen
  • endosome lumen
  • membrane raft
  • endosome membrane
  • lysosomal lumen
  • extracellular region
  • lysosomal membrane
  • lysosome

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • protein binding
  • aspartic-type endopeptidase activity
  • aspartic-type peptidase activity
  • cysteine-type endopeptidase activity
  • peptidase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.