CAPN6 - calpain 6 Gene

中文名称：钙蛋白酶 6

种属: Homo sapiens

同用名: CANPX; CAPNX; CalpM; DJ914P14.1

基因 ID: 827 | 基因类型: protein coding

关于 CAPN6

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:111,245,099-111,270,483 (from NCBI)

This gene has 1 transcript (splice variant), 212 orthologues and 20 paralogues. Biased expression in placenta (RPKM 59.5), endometrium (RPKM 13.7) and 5 other tissues.

功能概要

钙蛋白酶是普遍存在的、保守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。大亚基具有半胱氨酸蛋白酶结构域，两个亚基都具有钙结合结构域。钙蛋白酶与神经退行性过程有关，因为它们的激活可以由钙流入和氧化应激触发。该基因编码的蛋白质在胎盘中高度表达。它的 C 末端区域与其他钙蛋白酶的钙调蛋白样结构域没有任何同源性。该蛋白质缺乏关键的活性位点残基，因此被认为是无蛋白水解活性的。该蛋白可能通过抑制细胞凋亡和促进血管生成在肿瘤形成中发挥作用。[RefSeq 提供，2009 年 11 月]

Calpains are 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 subunit possesses a cysteine protease domain, and both subunits possess calcium-binding domains. Calpains have been implicated in neurodegenerative processes, as their activation can be triggered by calcium influx and oxidative stress. The protein encoded by this gene is highly expressed in the placenta. Its C-terminal region lacks any homology to the calmodulin-like domain of Other calpains. The protein lacks critical active site residues and thus is suggested to be proteolytically inactive. The protein may play a role in tumor formation by inhibiting Apoptosis and promoting angiogenesis. [provided by RefSeq, Nov 2009]

CAPN6 基因产物(1)

mRNA	Protein	Name
NM_014289.4	NP_055104.2	calpain-6

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in perinuclear region of cytoplasm	IDA IDA: 通过直接分析推断	17210638	GOA
located in spindle microtubule	IDA IDA: 通过直接分析推断	17210638	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

CAPN6 蛋白结构

Peptidase_C2

Calpain_III

0
100
200
300
400
500
600
641 a.a.

蛋白主名

其他名称

calpain-6

calpain-like protease X-linked

CAPN6 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	CAPN6	Q9Y6Q1	ZBTB14	Homo sapiens	O43829	Y2H Prey Pooling	32296183
种属内	CAPN6	Q9Y6Q1	ZBTB14	Homo sapiens	O43829	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Leiomyosarcoma

Leiomyosarcomas

Leiomyoma

Leiomyomatous Neoplasm	Leiomyomatous Tumor
Leiomyomas	Fibroid Tumor
Uterine Fibroids

Corneal Dystrophy, Endothelial, X-Linked

X-Linked Endothelial Corneal Dystrophy	XECD
Endothelial Corneal Dystrophy, X-Linked

Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy	Ppcd
Maumenee Corneal Dystrophy	Posterior Polymorphous Corneal Dystrophy 1
PPCD1	Corneal Dystrophy, Hereditary Polymorphous Posterior
Corneal Endothelial Dystrophy 1, Autosomal Dominant	Schlichting Dystrophy
Ched1	Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly
Ched1, Formerly	Hereditary Polymorphus Posterior Corneal Dystrophy
Posterior Polymorphous Dystrophy	Hereditary Polymorphous Posterior Corneal Dystrophy
Dystrophy, Corneal, Posterior Polymorphous	Dystrophy, Corneal, Posterior Polymorphous, Type 1
Polymorphous Corneal Dystrophy	Corneal Endothelial Dystrophy 2

Deafness, X-Linked 1

DFNX1	Dfn2
Deafness, X-Linked 2, Sensorineural Congenital	X-Linked Deafness 1
X-Linked Sensorineural Congenital Deafness 2	Deafness, X-Linked, 1
Congenital Sensorineural Deafness X-Linked 2	Deafness, X-Linked, Type 1

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

Chondroblastic Osteosarcoma

Chondrosarcomatous Osteogenic Sarcoma

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS01892	CAPN6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	CAPN6	VGNC	VGNC:26749
Mus musculus	CAPN6	MGD	MGI:1100850
Macaca mulatta	CAPN6	VGNC	VGNC:70535
Rattus norvegicus	CAPN6	RGD	RGD:70960
Canis familiaris	CAPN6	VGNC	VGNC:38706
Felis catus	CAPN6	VGNC	VGNC:60356

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