CAST - calpastatin Gene
Also Known as BS-17; PLACK
Species: Homo sapiens
About CAST
This gene has 59 transcripts (splice variants), 206 orthologues and is associated with 2 phenotypes. Ubiquitous expression in esophagus (RPKM 82.1), heart (RPKM 55.7) and 24 other tissues.
Summary
The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
CAST Products (22)
| mRNA | Protein | Name |
|---|---|---|
| NM_001042440.5 | NP_001035905.1 | calpastatin isoform f |
| NM_001042441.3 | NP_001035906.1 | calpastatin isoform g |
| NM_001042442.3 | NP_001035907.1 | calpastatin isoform h |
| NM_001042443.3 | NP_001035908.1 | calpastatin isoform i |
| NM_001042444.3 | NP_001035909.1 | calpastatin isoform j |
| NM_001042445.3 | NP_001035910.1 | calpastatin isoform k |
| NM_001042446.3 | NP_001035911.1 | calpastatin isoform l |
| NM_001190442.2 | NP_001177371.1 | calpastatin isoform m |
| NM_001284212.4 | NP_001271141.1 | calpastatin isoform n |
| NM_001284213.4 | NP_001271142.1 | calpastatin isoform o |
| NM_001330626.2 | NP_001317555.1 | calpastatin isoform p |
| NM_001330627.2 | NP_001317556.1 | calpastatin isoform q |
| NM_001330628.2 | NP_001317557.1 | calpastatin isoform r |
| NM_001330629.2 | NP_001317558.1 | calpastatin isoform s |
| NM_001330630.2 | NP_001317559.1 | calpastatin isoform t |
| NM_001330631.2 | NP_001317560.1 | calpastatin isoform m |
| NM_001330632.2 | NP_001317561.1 | calpastatin isoform u |
| NM_001330633.2 | NP_001317562.1 | calpastatin isoform v |
| NM_001330634.2 | NP_001317563.1 | calpastatin isoform w |
| NM_001375317.1 | NP_001362246.1 | calpastatin isoform x |
| NM_001750.7 | NP_001741.4 | calpastatin isoform a |
| NM_173060.5 | NP_775083.1 | calpastatin isoform b |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables calcium-dependent cysteine-type endopeptidase inhibitor activity |
IMP
IMP: Inferred from mutant phenotype
|
2407243 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17474147 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in inhibition of cysteine-type endopeptidase activity |
IMP
IMP: Inferred from mutant phenotype
|
2407243 | GOA |
| involved in negative regulation of type B pancreatic cell apoptotic process |
IDA
IDA: Inferred from direct assay
|
15044459 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in cytosol |
IDA
IDA: Inferred from direct assay
|
14559243 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
14559243 | GOA |
CAST Protein Structure
Calpain_inhib: Calpain inhibitor (129 - 213)
Calpain_inhib: Calpain inhibitor (232 - 358)
Calpain_inhib: Calpain inhibitor (369 - 500)
Calpain_inhib: Calpain inhibitor (512 - 637)
- 0
- 200
- 400
- 600
- 708 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
calpastatin |
|
CAST Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P80042 | Calpastatin Antibody (YA814) | WB, ICC/IF, IHC-P | Human |
| HY-P81471 | Calpastatin Antibody (YA1216) | IHC-P | Human |
| HY-P81471A | Calpastatin Antibody (YA1216)(PBS only) | IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
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| Cheilitis |
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| Knuckle Pads |
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| Inflammatory Bowel Disease 15 |
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| Scrapie |
|
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| Palmoplantar Keratoderma, Punctate Type Iii |
|
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a |
|
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| Keratoderma, Palmoplantar, With Deafness |
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| Hemoglobin E Disease |
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| Rheumatoid Arthritis |
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| Connective Tissue Disease |
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| Alzheimer Disease, Familial, 1 |
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| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
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| Hypertension, Essential |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | CAST | MGD | MGI:1098236 |
| Felis catus | CAST | VGNC | VGNC:60390 |
| Macaca mulatta | CAST | VGNC | VGNC:70551 |
| Rattus norvegicus | CAST | RGD | RGD:2278 |
| Canis familiaris | CAST | VGNC | VGNC:38742 |
| Bos taurus | CAST | VGNC | VGNC:26790 |
| Others | CAST | NCBI |