Gene Gene information from NCBI Gene database.
Entrez ID 1509
Gene name Cathepsin D
Gene symbol CTSD
Synonyms (NCBI Gene)
CLN10CPSDHEL-S-130P
Chromosome 11
Chromosome location 11p15.5
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
SNPs SNP information provided by dbSNP.
19
SNP ID Visualize variation Clinical significance Consequence
rs121912789 A>T Pathogenic Coding sequence variant, missense variant
rs121912790 C>G Pathogenic Coding sequence variant, missense variant
rs140238987 C>A,G,T Likely-benign, conflicting-interpretations-of-pathogenicity, benign, uncertain-significance Coding sequence variant, synonymous variant
rs140563067 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs147800688 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
595
miRTarBase ID miRNA Experiments Reference
MIRT018513 hsa-miR-335-5p Microarray 18185580
MIRT029858 hsa-miR-26b-5p Microarray 19088304
MIRT051277 hsa-miR-16-5p CLASH 23622248
MIRT042779 hsa-miR-339-5p CLASH 23622248
MIRT042362 hsa-miR-484 CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Transcription factor Regulation Reference
ARNT Unknown 9611253
BRCA1 Repression 11244506
ESR1 Unknown 10037443;19569049
ESR2 Unknown 10037443
MYCN Activation 18566016
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IEA
GO:0004175 Function Endopeptidase activity IEA
GO:0004190 Function Aspartic-type endopeptidase activity IBA
GO:0004190 Function Aspartic-type endopeptidase activity IEA
GO:0004190 Function Aspartic-type endopeptidase activity TAS 3927292
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116840 2529 ENSG00000117984
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P07339
Protein name Cathepsin D (EC 3.4.23.5) [Cleaved into: Cathepsin D light chain; Cathepsin D heavy chain]
Protein 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
PDB 1LYA , 1LYB , 1LYW , 4OBZ , 4OC6 , 4OD9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07966 A1_Propeptide 21 50 A1 Propeptide Motif
PF00026 Asp 78 409 Eukaryotic aspartyl protease Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the aorta extracellular space (at protein level) (PubMed:20551380). Expressed in liver (at protein level) (PubMed:1426530). {ECO:0000269|PubMed:1426530, ECO:0000269|PubMed:20551380}.
Sequence
Sequence length 412
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Sphingolipid signaling pathway
Autophagy - animal
Lysosome
Apoptosis
Estrogen signaling pathway
Tuberculosis
Diabetic cardiomyopathy
  Collagen degradation
Metabolism of Angiotensinogen to Angiotensins
MHC class II antigen presentation
Neutrophil degranulation
Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
760
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Exaggerated startle response Likely pathogenic rs730882208 RCV000162114
Neuronal ceroid lipofuscinosis Pathogenic; Likely pathogenic rs752612332, rs2133659840, rs2133657906, rs2133657826, rs766300396, rs1845850847, rs774781089, rs2493825774, rs35855065, rs1845759700, rs1466648123, rs2493816889, rs2493823481, rs2493823533, rs2493834457
View all (17 more)
RCV001999994
RCV002032208
RCV001979146
RCV002000048
RCV002020530
RCV001918223
RCV001980415
RCV003065238
RCV003086274
RCV003118441
RCV002805693
RCV002824407
RCV002819548
RCV002829096
RCV002866228
RCV002895724
RCV003013958
RCV003022249
RCV003039282
RCV003066081
RCV003533987
RCV003533943
RCV003531821
RCV003531842
RCV003532380
RCV003532501
RCV003648245
RCV003648528
RCV003648452
RCV003648606
RCV003648820
RCV003841168
RCV002527103
RCV001057268
Neuronal ceroid lipofuscinosis 10 Pathogenic; Likely pathogenic rs2133668728, rs797045137, rs121912789, rs121912790, rs786205105, rs752612332 RCV001780593
RCV000190882
RCV000019134
RCV000019135
RCV000019136
RCV004796203
Severe microlissencephaly Likely pathogenic rs730882208 RCV000162114
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CTSD-related disorder Likely benign; Conflicting classifications of pathogenicity rs146073498, rs563052262, rs140238987, rs374010531, rs147641822, rs754748489, rs140563067, rs757712173, rs531682785, rs911925676, rs371747998, rs762444592, rs749805002, rs777645484 RCV003930946
RCV003956062
RCV003965044
RCV003915248
RCV003965045
RCV003893180
RCV003907574
RCV003967472
RCV003940033
RCV003901777
RCV003957906
RCV003970137
RCV003972789
RCV003945587
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive Uncertain significance rs886048068 RCV000316369
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 7523115
Adenocarcinoma Associate 17522418
Adenocarcinoma of Lung Associate 22761399
Adenoma Associate 12408466
Alzheimer Disease Associate 15907478, 16417614, 16543533, 18426579, 24731980, 25756588, 29359159, 30037983, 30192871, 31936569, 32323319, 36448495, 40329537, 7523115, 8034590
View all (2 more)
Alzheimer Disease Stimulate 7695914
Aneuploidy Associate 2296271
Anti Glomerular Basement Membrane Disease Associate 18216317
Aortic Aneurysm Abdominal Associate 22804761, 24833013
Arthritis Gouty Stimulate 37069596