CTSD - cathepsin D Gene
Also Known as CPSD; CLN10; HEL-S-130P
Species: Homo sapiens
About CTSD
This gene has 16 transcripts (splice variants), 211 orthologues, 9 paralogues and is associated with 4 phenotypes. Ubiquitous expression in lung (RPKM 302.1), kidney (RPKM 273.0) and 25 other tissues.
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]
CTSD Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001909.5 | NP_001900.1 | cathepsin D preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables peptidase activity |
IDA
IDA: Inferred from direct assay
|
16997486 | GOA |
| enables peptidase activity |
IMP
IMP: Inferred from mutant phenotype
|
17188016 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17112520 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in lipoprotein catabolic process |
IDA
IDA: Inferred from direct assay
|
16997486 | GOA |
| involved in positive regulation of apoptotic process |
IDA
IDA: Inferred from direct assay
|
12107093 | GOA |
| involved in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process |
IDA
IDA: Inferred from direct assay
|
12107093 | GOA |
| involved in proteolysis |
IDA
IDA: Inferred from direct assay
|
16997486 | GOA |
| involved in proteolysis |
IMP
IMP: Inferred from mutant phenotype
|
17188016 | GOA |
| involved in regulation of establishment of protein localization |
IDA
IDA: Inferred from direct assay
|
12107093 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endosome membrane |
IDA
IDA: Inferred from direct assay
|
17188016 | GOA |
| located in lysosomal membrane |
IDA
IDA: Inferred from direct assay
|
17188016 | GOA |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
1692625 | GOA |
| located in membrane raft |
IDA
IDA: Inferred from direct assay
|
25204797 | GOA |
CTSD Protein Structure
A1_Propeptide: A1 Propeptide (21 - 47)
Asp: Eukaryotic aspartyl protease (78 - 409)
- 0
- 100
- 200
- 300
- 412 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cathepsin D |
|
|
CTSD Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CTSD | P07339 | ZNF497 | Homo sapiens | Q6ZNH5 | 32814053 | |
|
Intra
|
CTSD | P07339 | APP | Homo sapiens | P05067 | 17112520 |
Recombinant CTSD Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7748 | Cathepsin D Protein, Human (HEK293, His, solution) | P07339 (L21-L412) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P7748A | Cathepsin D Protein, Human (HEK293, His) | P07339 (L21-L412) | ≥ 95%, as determined by reducing SDS-PAGE. |
CTSD Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80384 | Cathepsin D Antibody (YA550) | WB, ICC/IF, IHC-P, IP | Human, Mouse |
| HY-P86553 | Cathepsin D Antibody (YA6245) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Mucolipidosis Iii Alpha/Beta |
|
|
| Sphingolipidosis |
|
|
| Laryngeal Squamous Cell Carcinoma |
|
|
| Hirschsprung Disease 1 |
|
|
| Mucolipidosis |
|
|
| Progressive Myoclonus Epilepsy |
|
|
| Dementia, Lewy Body |
|
|
| Fundus Dystrophy |
|
|
| Acute Anterolateral Myocardial Infarction |
|
|
| Gaucher'S Disease |
|
|
| Mucolipidosis Ii Alpha/Beta |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Breast Cancer |
|
|
| Amyloidosis |
|
|
| Tubular Adenocarcinoma |
|
|
| Ovarian Cancer |
|
|
| Tetanus |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Breast Cyst |
|
|
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
|
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
|
| Microglandular Adenosis |
|
|
| Gaucher Disease, Type I |
|
|
| Dilated Cardiomyopathy |
|
|
| Meningioma, Familial |
|
|
| Endometrial Cancer |
|
|
| Schindler Disease, Type I |
|
|
| Breast Disease |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
|
| Larynx Cancer |
|
|
| Fanconi Syndrome |
|
|
| Colorectal Cancer |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Peripartum Cardiomyopathy |
|
|
| Gastric Cancer |
|
|
| Breast Fibroadenoma |
|
|
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
|
| C Syndrome |
|
|
| Lysosomal Storage Disease |
|
|
| Female Breast Cancer |
|
|
| Breast Ductal Carcinoma |
|
|
| Retinitis Pigmentosa |
|
|
| Nervous System Disease |
|
|
| Neuronal Ceroid Lipofuscinosis |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Mixed Cell Adenoma |
|
|
| Prostate Cancer |
|
|
| Niemann-Pick Disease |
|
|
| Dementia |
|
|
| Mucopolysaccharidosis Iii |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Mucopolysaccharidosis-Plus Syndrome |
|
|
| Tay-Sachs Disease |
|
|
| Cystic Fibrosis |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | CTSD | MGD | MGI:88562 |
| Bos taurus | CTSD | VGNC | VGNC:103056 |
| Felis catus | CTSD | VGNC | VGNC:82004 |
| Canis familiaris | CTSD | VGNC | VGNC:103052 |
| Rattus norvegicus | CTSD | RGD | RGD:621511 |