1. Gene
  2. CAST - calpastatin Gene

CAST - calpastatin Gene

中文名称:钙抑素

种属: Homo sapiens

同用名: BS-17; PLACK

基因 ID: 831 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白质是一种内源性钙蛋白酶 (钙依赖性半胱氨酸蛋白酶) 抑制剂。它由一个 N 末端结构域 L 和四个重复的钙蛋白酶抑制结构域 (结构域 1-4) 组成,并参与淀粉样前体蛋白的蛋白水解。钙蛋白酶/钙蛋白酶抑制素系统参与许多膜融合事件,例如神经囊泡胞吐作用以及血小板和红细胞聚集。编码的蛋白质也被认为会影响编码结构或调节蛋白的基因的表达水平。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供,2010 年 6 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables calcium-dependent cysteine-type endopeptidase inhibitor activity IMP
IMP: 通过突变表型推断
2407243 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17474147 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in inhibition of cysteine-type endopeptidase activity IMP
IMP: 通过突变表型推断
2407243 GOA
involved in negative regulation of type B pancreatic cell apoptotic process IDA
IDA: 通过直接分析推断
15044459 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
14559243 GOA
located in membrane IDA
IDA: 通过直接分析推断
14559243 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CAST 蛋白结构

Calpain_inhib

Calpain_inhib: Calpain inhibitor (129 - 213)

Calpain_inhib

Calpain_inhib: Calpain inhibitor (232 - 358)

Calpain_inhib

Calpain_inhib: Calpain inhibitor (369 - 500)

Calpain_inhib

Calpain_inhib: Calpain inhibitor (512 - 637)

  • 0
  • 200
  • 400
  • 600
  • 708 a.a.
蛋白主名 其他名称

calpastatin

calpain inhibitor

CAST 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CAST P20810 NCK1 Homo sapiens P16333 17474147
种属间: 跨种属相互作用 种属内: 同种属相互作用

CAST 抗体

目录号 产品名 应用 反应物种
HY-P80042 Calpastatin Antibody (YA814) WB, ICC/IF, IHC-P Human
HY-P81471 Calpastatin Antibody (YA1216) IHC-P Human

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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