1. Gene
  2. CAPN10 - calpain 10 Gene

CAPN10 - calpain 10 Gene

中文名称:钙蛋白酶 10

种属: Homo sapiens

同用名: CANP10; NIDDM1

基因 ID: 11132 | 基因类型: protein coding

关于 CAPN10

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:240,586,734-240,599,104 (from NCBI)

This gene has 16 transcripts (splice variants), 201 orthologues, 20 paralogues and is associated with 2 phenotypes. Ubiquitous expression in spleen (RPKM 8.4), testis (RPKM 6.6) and 25 other tissues.

功能概要

钙蛋白酶代表一个普遍存在的、保存完好的钙依赖性半胱氨酸蛋白酶家族。钙蛋白酶是由不变的小亚基和可变的大亚基组成的异二聚体。大催化亚基有四个结构域:结构域 I,在钙蛋白酶激活后处理的 N 末端调节结构域;结构域 II,蛋白酶结构域;域 III,未知功能的链接域;和域 IV,钙调蛋白样钙结合域。该基因编码一个大亚基。它是一种非典型的钙蛋白酶,因为它缺乏钙调蛋白样钙结合结构域,而是具有不同的 C 末端结构域。它在结构上与钙蛋白酶 5 和 6 相似。该基因与 2 型或非胰岛素依赖型糖尿病 (NIDDM) 相关,位于 NIDDM1 区域内。已经描述了该基因的多个替代转录物变体。[RefSeq 提供,2010 年 9 月]

Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The large catalytic subunit has four domains: domain I, the N-terminal regulatory domain that is processed upon calpain activation; domain II, the protease domain; domain III, a linker domain of unknown function; and domain IV, the calmodulin-like calcium-binding domain. This gene encodes a large subunit. It is an atypical calpain in that it lacks the calmodulin-like calcium-binding domain and instead has a divergent C-terminal domain. It is similar in organization to calpains 5 and 6. This gene is associated with type 2 or non-insulin-dependent diabetes mellitus (NIDDM), and is located within the NIDDM1 region. Multiple alternative transcript variants have been described for this gene. [provided by RefSeq, Sep 2010]

CAPN10 基因产物(2)

mRNA Protein Name
NM_023083.4 NP_075571.2 calpain-10 isoform a
NM_023085.4 NP_075573.3 calpain-10 isoform c
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 activity IMP
IMP: 通过突变表型推断
15044459 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to insulin stimulus IMP
IMP: 通过突变表型推断
17572128 GOA
involved in positive regulation of D-glucose import IMP
IMP: 通过突变表型推断
17572128 GOA
involved in positive regulation of insulin secretion IMP
IMP: 通过突变表型推断
15471947 GOA
involved in proteolysis IMP
IMP: 通过突变表型推断
15044459 GOA
involved in 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
16790502 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
16790502 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

CAPN10 蛋白结构

Peptidase_C2

Peptidase_C2: Calpain family cysteine protease (13 - 317)

Calpain_III

Calpain_III: Calpain large subunit, domain III (339 - 493)

Calpain_III

Calpain_III: Calpain large subunit, domain III (514 - 645)

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

calpain-10

calcium-activated neutral proteinase 10

关联疾病

疾病名称 别名
Type 1 Diabetes Mellitus 2

Diabetes Mellitus, Noninsulin-Dependent, 1

Diabetes Mellitus, Insulin-Dependent, 2

IDDM2

Insulin-Dependent Diabetes Mellitus 2

NIDDM1

Diabetes Mellitus, Noninsulin-Dependent 1

T1D2

Type 2 Diabetes Mellitus 1

T2D1

Noninsulin-Dependent Diabetes Mellitus 1

Diabetes Mellitus, Non-Insulin-Dependent, 1

Type 2 Diabetes Mellitus 1, Susceptibility To

Diabetes Mellitus, Insulin-Dependent, Type 2

Diabetes Mellitus, Non-Insulin-Dependent

Polycystic Ovary Syndrome

Polycystic Ovarian Syndrome

Pcos

Polycystic Ovarian Disease

Polycystic Ovaries

Stein-Leventhal Syndrome

Multicystic Ovaries

Polycystic Ovary

Sclerocystic Ovaries

Sclerocystic Ovary Syndrome

Stein-Leventhal Synd.

Cystic Disease Of Ovaries

Cystic Disease Of Ovary

Pco

Pcod

Sclerocystic Ovarian Degeneration

Polycystic Ovary Syndrome, Susceptibility To

Pcos - [Polycystic Ovary Syndrome]

Polycystic Ovary Nos

Pco - [Polycystic Ovary]

Diabetes Mellitus

Diabetes

Hyperandrogenism

Hyperandrogenization Syndrome

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Gestational Diabetes

Gestational Diabetes Mellitus

GDM

Diabetes Mellitus Arising In Pregnancy

Maternal Gestational Diabetes Mellitus

Diabetes Mellitus, Gestational

Diabetes Mellitus, Pregnancy Related

Diabetes, Pregnancy-Induced

Diabetes Gestational

Diabetes, Gestational

Diabetes Of Pregnancy

Gdm - [Gestational Diabetes Mellitus]

Gestational Diabetes Mellitus Nos

Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Prediabetes Syndrome

Prediabetes

Impaired Glucose Tolerance

Prediabetic State

IGT

Igt - [Impaired Glucose Tolerance]

Impaired Glucose Tolerance With Unspecified Complication

Impaired Glucose Tolerance Without Complication

Abnormal Glucose Tolerance

Chromosome 2q37 Deletion Syndrome

Albright Hereditary Osteodystrophy-Like Syndrome

2q37 Microdeletion Syndrome

Brachydactyly-Intellectual Disability Syndrome

Deletion 2q37

2q37 Deletion Syndrome

Brachydactyly-Mental Retardation Syndrome

Bdmr

Albright Hereditary Osteodystrophy Type 3

Del(2)(Q37)

Monosomy 2q37qter

Albright'S Hereditary Osteodystrophy-Like Syndrome

Monosomy 2q37

Chromosome Deletion Syndrome 2q37

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Maturity-Onset Diabetes Of The Young

MODY

Maturity Onset Diabetes Mellitus In Young

Mason-Type Diabetes

Mason Type Diabetes

Maturity Onset Diabetes Of The Young

Mody Syndrome

Diabetes Of The Young, Maturity-Onset

Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

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
Rattus norvegicus CAPN10 RGD RGD:69354
Mus musculus CAPN10 MGD MGI:1344392
Felis catus CAPN10 VGNC VGNC:60349
Bos taurus CAPN10 VGNC VGNC:26741
Canis familiaris CAPN10 VGNC VGNC:38699
Macaca mulatta CAPN10 VGNC VGNC:70530