1. Gene
  2. CAPN1 - calpain 1 Gene

CAPN1 - calpain 1 Gene

中文名称:钙蛋白酶 1

种属: Homo sapiens

同用名: CANP; muCL; CANP1; SPG76; CANPL1; muCANP

基因 ID: 823 | 基因类型: protein coding

关于 CAPN1

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,181,373-65,212,006 (from NCBI)

This gene has 28 transcripts (splice variants), 229 orthologues, 20 paralogues and is associated with 2 phenotypes. Ubiquitous expression in esophagus (RPKM 94.2), skin (RPKM 48.8) and 24 other tissues.

功能概要

钙蛋白酶是钙激活的中性蛋白酶,是非溶酶体细胞内半胱氨酸蛋白酶。哺乳动物钙蛋白酶包括普遍存在的胃特异性和肌肉特异性蛋白质。无处不在的酶由异二聚体组成,这些异二聚体具有与共同的小调节亚基相关联的独特的大催化亚基。该基因编码普遍存在的酶钙蛋白酶 1 的大亚基。已发现该基因编码两种不同亚型的几种转录变体。[RefSeq 提供,2010 年 11 月]

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous Enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous Enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

CAPN1 基因产物(3)

mRNA Protein Name
NM_001198868.2 NP_001185797.1 calpain-1 catalytic subunit
NM_001198869.2 NP_001185798.1 calpain-1 catalytic subunit
NM_005186.4 NP_005177.2 calpain-1 catalytic subunit

CAPN1 蛋白结构

Peptidase_C2

Peptidase_C2: Calpain family cysteine protease (55 - 354)

Calpain_III

Calpain_III: Calpain large subunit, domain III (365 - 519)

EF-hand_8

EF-hand_8: EF-hand domain pair (557 - 610)

EF-hand_6

EF-hand_6: EF-hand domain (622 - 645)

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

calpain-1 catalytic subunit

CANP 1

重组 CAPN1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72113 CAPN1 Protein, Human (His) P07384 (M1-A714) ≥95%

关联疾病

疾病名称 别名
Spastic Paraplegia 76, Autosomal Recessive

SPG76

Autosomal Recessive Spastic Paraplegia Type 76

Hereditary Spastic Paraplegia 76

Autosomal Recessive Spastic Paraplegia 76

Paraplegia, Spastic, Autosomal Recessive, Type 76

Paraplegia

Paraplegia, Lower

Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk

Spasticity
Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Spinocerebellar Atrophy

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar

Spastic Paraplegia 79, Autosomal Recessive

Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome

SPG79

Neurodegeneration With Optic Atrophy, Childhood-Onset

Ndgoa

Hereditary Spastic Paraplegia 79

Spastic Paraplegia 79 Autosomal Recessive

Doid:0112344

Neurodegeneration, With Optic Atrophy, Childhood-Onset

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

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Spastic Ataxia

Spax

Ataxia, Spastic

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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

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
Macaca mulatta CAPN1 VGNC VGNC:70529
Rattus norvegicus CAPN1 RGD RGD:2267
Mus musculus CAPN1 MGD MGI:88263
Felis catus CAPN1 VGNC VGNC:60348
Bos taurus CAPN1 VGNC VGNC:26740
Canis familiaris CAPN1 VGNC VGNC:38698
Others CAPN1 NCBI