CST3 - cystatin C Gene
Also Known as ARMD11; HEL-S-2
Species: Homo sapiens
About CST3
This gene has 3 transcripts (splice variants), 282 orthologues, 11 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 148.6), salivary gland (RPKM 118.0) and 25 other tissues.
Summary
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine Protease Inhibitors, while Others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes the most abundant extracellular inhibitor of cysteine proteases, which is found in high concentrations in biological fluids and is expressed in virtually all organs of the body. A mutation in this gene has been associated with amyloid angiopathy. Expression of this protein in vascular wall smooth muscle cells is severely reduced in both atherosclerotic and aneurysmal aortic lesions, establishing its role in vascular disease. In addition, this protein has been shown to have an antimicrobial function, inhibiting the replication of herpes simplex virus. Alternative splicing results in multiple transcript variants encoding a single protein. [provided by RefSeq, Nov 2014]
CST3 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000099.4 | NP_000090.1 | cystatin-C precursor |
| NM_001288614.2 | NP_001275543.1 | cystatin-C precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables amyloid-beta binding |
IPI
IPI: Inferred from physical interaction
|
18026102 | GOA |
| enables cysteine-type endopeptidase inhibitor activity |
IDA
IDA: Inferred from direct assay
|
3488317 | GOA |
| enables endopeptidase inhibitor activity |
IDA
IDA: Inferred from direct assay
|
15127951 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
25479090 | GOA |
| enables peptidase inhibitor activity |
IDA
IDA: Inferred from direct assay
|
18256700 | GOA |
| enables protease binding |
IPI
IPI: Inferred from physical interaction
|
6203523 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15127951 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in defense response |
IDA
IDA: Inferred from direct assay
|
6203523 | GOA |
| involved in negative regulation of blood vessel remodeling |
IMP
IMP: Inferred from mutant phenotype
|
10545518 | GOA |
| involved in negative regulation of collagen catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
10545518 | GOA |
| involved in negative regulation of elastin catabolic process |
IMP
IMP: Inferred from mutant phenotype
|
10545518 | GOA |
| involved in negative regulation of extracellular matrix disassembly |
IMP
IMP: Inferred from mutant phenotype
|
10545518 | GOA |
| involved in negative regulation of peptidase activity |
IDA
IDA: Inferred from direct assay
|
6203523 | GOA |
| involved in negative regulation of proteolysis |
IDA
IDA: Inferred from direct assay
|
3488317 | GOA |
| involved in regulation of tissue remodeling |
IMP
IMP: Inferred from mutant phenotype
|
10545518 | GOA |
| involved in supramolecular fiber organization |
IGI
IGI: Inferred from genetic interaction
|
18026102 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in Golgi apparatus |
IDA
IDA: Inferred from direct assay
|
15212960 | GOA |
| located in extracellular region |
IMP
IMP: Inferred from mutant phenotype
|
18026102 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
3488317 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
22365146 | GOA |
CST3 Protein Structure
Cystatin: Cystatin domain (37 - 132)
- 0
- 100
- 146 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
cystatin-C |
|
CST3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CST3 | P01034 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
CST3 | P01034 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
CST3 | P01034 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
CST3 | P01034 | CST3 | Homo sapiens | P01034 | 25479090 | |
|
Intra
|
CST3 | P01034 | CST3 | Homo sapiens | P01034 | 25479090 | |
|
Intra
|
CST3 | P01034 | CST3 | Homo sapiens | P01034 | 25479090 | |
|
Intra
|
CST3 | P01034 | CST3 | Homo sapiens | P01034 | 26865059 | |
|
Intra
|
CST3 | P01034 | CST3 | Homo sapiens | P01034 | 26865059 | |
|
Intra
|
CST3 | P01034 | CST3 | Homo sapiens | P01034 | 26865059 | |
|
Intra
|
CST3 | P01034 | CTSC | Homo sapiens | P53634 | 33961781 | |
|
Intra
|
CST3 | P01034 | CTSB | Homo sapiens | P07858 | 33961781 | |
|
Intra
|
CST3 | P01034 | CST3 | Homo sapiens | P01034 | 25479090 | |
|
Intra
|
CST3 | P01034 | CST3 | Homo sapiens | P01034 | 26865059 | |
|
Intra
|
CST3 | P01034 | FAM20C | Homo sapiens | Q8IXL6 | 22582013 | |
|
Intra
|
CST3 | P01034 | BIRC6 | Homo sapiens | Q9NR09 | 33961781 | |
|
Intra
|
CST3 | P01034 | ATXN1 | Homo sapiens | P54253 | 16713569 | |
|
Intra
|
CST3 | P01034 | CTSH | Homo sapiens | P09668 | 33961781 |
Recombinant CST3 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7865 | Cystatin C/CST3 Protein, Human (HEK293, His) | P01034 (S27-A146) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P72688 | Cystatin C/CST3 Protein, Human (HEK293) | P01034 (S27-A146) | ≥ 95%, as determined by reducing SDS-PAGE. |
CST3 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80639 | Cystatin C Antibody (YA480) | WB, IHC-P | Human, Mouse, Rat |
| HY-P80639A | Cystatin C Antibody (YA480)(PBS only) | WB, IHC-P | Human, Mouse, Rat |
| HY-P85760 | Cystatin C Antibody (YA5452) | ICC/IF, WB, IHC-P, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
|
| Macular Degeneration, Age-Related, 11 |
|
|
| Amyloidosis |
|
|
| Kidney Disease |
|
|
| Creutzfeldt-Jakob Disease |
|
|
| Hemorrhage, Intracerebral |
|
|
| Hepatorenal Syndrome |
|
|
| Acute Kidney Failure |
|
|
| Orthostatic Proteinuria |
|
|
| Vascular Disease |
|
|
| Vascular Dementia |
|
|
| Hyperhomocysteinemia |
|
|
| Gastroschisis |
|
|
| Visceral Leishmaniasis |
|
|
| Cerebral Amyloid Angiopathy, App-Related |
|
|
| Fabry Disease |
|
|
| Inferolateral Myocardial Infarct |
|
|
| Heart Disease |
|
|
| Urethral False Passage |
|
|
| Benign Meningioma |
|
|
| Renal Artery Disease |
|
|
| Aortic Aneurysm, Familial Abdominal, 1 |
|
|
| Acute Kidney Tubular Necrosis |
|
|
| Pelvic Inflammatory Disease |
|
|
| Cardiovascular System Disease |
|
|
| Acute Myocardial Infarction |
|
|
| Dementia |
|
|
| Arteriosclerosis |
|
|
| Amyloidosis, Familial Visceral |
|
|
| Chronic Kidney Disease |
|
|
| Pre-Eclampsia |
|
|
| Homocystinuria |
|
|
| Aortic Aneurysm |
|
|
| Placental Insufficiency |
|
|
| Myocardial Infarction |
|
|
| Renal Artery Atheroma |
|
|
| Danubian Endemic Familial Nephropathy |
|
|
| Amyloidosis, Finnish Type |
|
|
| Anuria |
|
|
| Hypertension, Essential |
|
|
| Cerebrovascular Disease |
|
|
| Bone Disease |
|
|
| Beta-Thalassemia |
|
|
| Eye Disease |
|
|
| Diabetes Mellitus |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Kidney Papillary Necrosis |
|
|
| Cerebral Amyloid Angiopathy, Itm2b-Related, 1 |
|
|
| Interstitial Nephritis |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Hypothyroidism |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Peripheral Artery Disease |
|
|
| Urinary Tract Infection |
|
|
| Neurogenic Bladder |
|
|
| Renal Hypertension |
|
|
| Urinary Tract Obstruction |
|
|
| Viral Laryngitis |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Stroke, Ischemic |
|
|
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
|
| Osteoporosis |
|
|
| Vesicoureteral Reflux |
|
|
| Beta-Thalassemia Major |
|
|
| Primary Cutaneous Amyloidosis |
|
|
| Fanconi Syndrome |
|
|
| Thrombocytopenia |
|
|
| Cystic Kidney Disease |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Cakut |
|
|
| Polycystic Kidney Disease |
|
|
| Meningioma, Familial |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | CST3 | RGD | RGD:2432 |
| Mus musculus | CST3 | MGD | MGI:102519 |