CAST - calpastatin Gene

Also Known as BS-17; PLACK

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 831

About CAST

Cytogenetic location: 5q15 Genomic coordinates (GRCh38): 5:96,662,037-96,774,683 (from NCBI)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
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	参考文献	由来
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	参考文献	由来
located in cytosol	IDA IDA: Inferred from direct assay	14559243	GOA
located in membrane	IDA IDA: Inferred from direct assay	14559243	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CAST Protein Structure

Calpain_inhib

0
200
400
600
708 a.a.

Protein Preferred Names	Protein Names
calpastatin	calpain inhibitor

CAST Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	CAST	P20810	NCK1	Homo sapiens	P16333	Peptide Array	17474147

Cross: Cross-species interaction Intra: Intraspecies interaction

CAST 抗体

製品番号	製品名	アプリケーション	反応性
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

関連疾患

Diseases	Alias
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	PLACK Peeling Skin-Leukonychia-Acral Punctate Keratoses-Cheilitis-Knuckle Pads Syndrome Plack Syndrome
Cheilitis
Knuckle Pads	Garrod Pads
Inflammatory Bowel Disease 15	IBD15
Scrapie
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratoelastoidosis Of Costa Ake Punctate Palmoplantar Keratoderma Type Iii PPKP3 Keratoderma, Palmoplantar, Punctate Type 3 Punctate Palmoplantar Hyperkeratosis Type 3 Punctate Palmoplantar Keratoderma Type 3 Rare Form Of Hirschsprung'S Disease Acrokeratoelastoidosis Collagenous Plaques Of Hands And Feet Aganglionosis, Total Intestinal Collagenous Plaques Of Hand And Feet Palmoplantar Keratoderma, Punctate Type 3 Aganglionosis, Total Colonic Ntia Near-Total Intestinal Aganglionosis Tia
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a	Leyden-Moebius Muscular Dystrophy Lgmd2a Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency Muscular Dystrophy, Limb-Girdle, Type 2a Pelvofemoral Muscular Dystrophy Primary Calpainopathy
Keratoderma, Palmoplantar, With Deafness	Palmoplantar Keratoderma-Deafness Syndrome Palmoplantar Keratoderma With Deafness Palmoplantar Hyperkeratosis-Deafness Syndrome Palmoplantar Hyperkeratosis-Hearing Loss Syndrome Palmoplantar Keratoderma-Hearing Loss Syndrome Ppk-Deafness Syndrome Keratoderma Palmoplantar Deafness Diffuse Palmoplantar Keratoderma With Deafness Focal Palmoplantar Keratoderma With Sensorineural Deafness Hereditary Palmoplantar Keratoderma With Deafness Keratoderma Palmoplantar, With Deafness Palmoplantar Keratoderma And Sensorineural Deafness Ppk With Deafness PPKDFN Keratoderma Palmoplantar, Deafness
Hemoglobin E Disease	Hemoglobin E Hb-E Disease
Rheumatoid Arthritis	RA Arthritis, Rheumatoid Rheumatoid Arthritis, Susceptibility To Arthritis Or Polyarthritis, Rheumatic Atrophic Arthritis Rheumatism Arthritis Rheumatoid Polyarthritis
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-N7055	Trierucin		99.27%	Unkown
HY-186130	CAST-calpain-2 stabilizer-1	Inhibitor	99.50%	Unkown
HY-N10637	N-Acetyldopamine dimer-1		/	Unkown
HY-N12703	N-Acetyldopamine dimmers A		/	Unkown
HY-RS01978	CAST Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04477	ERC2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17878	Cast Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24347	Cast Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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