CTSD

Protein identityUniProt · HPA

UniProt accession

P07339

Gene

CTSD

Ensembl

ENSG00000117984

Chromosome

11

Canonical length

412 aa

Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to blood

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

412 residues, UniProt reviewed canonical sequence.

>P07339|CTSD
     1  MQPSSLLPLA LCLLAAPASA LVRIPLHKFT SIRRTMSEVG GSVEDLIAKG PVSKYSQAVP
    61  AVTEGPIPEV LKNYMDAQYY GEIGIGTPPQ CFTVVFDTGS SNLWVPSIHC KLLDIACWIH
   121  HKYNSDKSST YVKNGTSFDI HYGSGSLSGY LSQDTVSVPC QSASSASALG GVKVERQVFG
   181  EATKQPGITF IAAKFDGILG MAYPRISVNN VLPVFDNLMQ QKLVDQNIFS FYLSRDPDAQ
   241  PGGELMLGGT DSKYYKGSLS YLNVTRKAYW QVHLDQVEVA SGLTLCKEGC EAIVDTGTSL
   301  MVGPVDEVRE LQKAIGAVPL IQGEYMIPCE KVSTLPAITL KLGGKGYKLS PEDYTLKVSQ
   361  AGKTLCLSGF MGMDIPPPSG PLWILGDVFI GRYYTVFDRD NNRVGFAEAA RL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CTSD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

960 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CTSD.

Disease | AllUniProt

Conditions CTSD is implicated in, by any mechanism.

• Ceroid lipofuscinosis, neuronal, 10 (CLN10) MIM:610127

Disease | GeneticClinVar

52 pathogenic / likely-pathogenic of 809 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Neuronal ceroid lipofuscinosis
• Neuronal ceroid lipofuscinosis 10
• Severe microlissencephaly
• Exaggerated startle response
• Retinal disorder

ReferencesPubMed · IEDB

Publications for CTSD from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.8

gnomAD pLI

0

gnomAD missense Z

1.38

DepMap mean gene effect

0.17

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• antigen processing and presentation of exogenous peptide antigen via MHC class II
• autophagosome assembly
• execution phase of apoptosis
• insulin catabolic process
• insulin receptor recycling
• lipoprotein catabolic process
• positive regulation of apoptotic process
• proteolysis
• regulation of establishment of protein localization

Molecular functions

• aspartic-type endopeptidase activity
• aspartic-type peptidase activity
• cysteine-type endopeptidase activity
• peptidase activity

Cellular components

• cytosol
• endosome lumen
• endosome membrane
• extracellular exosome
• extracellular matrix
• extracellular region
• extracellular space
• ficolin-1-rich granule lumen
• lysosomal lumen
• lysosomal membrane
• lysosome
• melanosome
• membrane raft
• specific granule lumen
• tertiary granule lumen

Protein domainsUniProt · Pfam · InterPro

• Aspartic peptidase A1
• Aspartic peptidase, active site
• Aspartic peptidase, N-terminal
• Aspartic peptidase domain superfamily
• Peptidase family A1 domain
• Eukaryotic aspartyl protease
• A1 Propeptide
• Cathepsin D

KeywordsUniProt

• Alzheimer disease
• Aspartyl protease
• Disulfide bond
• Glycoprotein
• Hydrolase
• Lysosome
• Neurodegeneration
• Neuronal ceroid lipofuscinosis
• Protease
• Secreted
• Signal
• Zymogen

InteractionsUniProt · HPA

Protein binding partners of CTSD in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ADAM30
• GRN
• LDHB