CAST - calpastatin Gene

Homo sapiens

Also known as BS-17; PLACK

Gene ID: 831 | Gene type: protein coding

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

CAST Protein Structure

Calpain_inhib

0
200
400
600
708 a.a.

Protein Preferred Names

Protein Names

calpastatin

calpain inhibitor

Related Diseases

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

Bioactive Molecules (3)

Cat. No.	Product Name	Purity	Rare Diseases
HY-N10637	N-Acetyldopamine dimer-1	/	Unkown
HY-N12703	N-Acetyldopamine dimmers A	/	Unkown
HY-RS01978	CAST Human Pre-designed siRNA Set A	/	Unkown

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

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