CHMP4A - charged multivesicular body protein 4A Gene

中文名称：带电多泡体蛋白 4A

种属: Homo sapiens

同用名: SNF7; CHMP4; SHAX2; CHMP4B; SNF7-1; VPS32A; HSPC134; VPS32-1; C14orf123

基因 ID: 29082 | 基因类型: protein coding

关于 CHMP4A

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:24,209,615-24,213,488 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 77 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 27.3), lymph node (RPKM 25.9) and 25 other tissues.

功能概要

CHMP4A 属于染色质修饰蛋白/带电多泡体蛋白 (CHMP) 家族。这些蛋白质是 ESCRT-III (运输 III 所需的内体分选复合物) 的组分，ESCRT-III 是一种参与表面受体蛋白降解和内吞多泡体 (MVB) 形成的复合物。一些 CHMP 具有细胞核和细胞质/囊泡分布，其中一种 CHMP，CHMP1A (MIM 164010) ，是 MVB 形成和细胞周期进程调节所必需的 (Tsang 等人，2006 [PubMed 16730941]) 。[OMIM，2008 年 3 月]

CHMP4A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface Receptor Proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

CHMP4A 基因产物(1)

mRNA	Protein	Name
NM_014169.5	NP_054888.3	charged multivesicular body protein 4a

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 ATPase binding	IPI IPI: 通过物理相互作用推断	18209100	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	18209100	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	14505570	GOA
enables protein homodimerization activity	IPI IPI: 通过物理相互作用推断	14519844	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in autophagosome maturation	IMP IMP: 通过突变表型推断	17984323	GOA
involved in autophagy	IMP IMP: 通过突变表型推断	17984323	GOA
involved in late endosome to lysosome transport	IMP IMP: 通过突变表型推断	17984323	GOA
involved in membrane invagination	IMP IMP: 通过突变表型推断	24878737	GOA
involved in midbody abscission	IMP IMP: 通过突变表型推断	20616062	GOA
involved in mitotic metaphase chromosome alignment	IMP IMP: 通过突变表型推断	20616062	GOA
involved in multivesicular body sorting pathway	IDA IDA: 通过直接分析推断	16554368	GOA
involved in multivesicular body sorting pathway	IMP IMP: 通过突变表型推断	21975012	GOA
involved in nervous system process	IMP IMP: 通过突变表型推断	21975012	GOA
involved in nuclear membrane reassembly	IMP IMP: 通过突变表型推断	26040713	GOA
involved in nucleus organization	IMP IMP: 通过突变表型推断	20616062	GOA
involved in plasma membrane repair	IDA IDA: 通过直接分析推断	24482116	GOA
involved in plasma membrane tubulation	IGI IGI: 通过遗传相互作用推断	18209100	GOA
involved in plasma membrane tubulation	IMP IMP: 通过突变表型推断	18209100	GOA
involved in post-translational protein targeting to endoplasmic reticulum membrane	IMP IMP: 通过突变表型推断	21975012	GOA
involved in protein polymerization	IMP IMP: 通过突变表型推断	18209100	GOA
involved in regulation of mitotic spindle assembly	IMP IMP: 通过突变表型推断	20616062	GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IDA IDA: 通过直接分析推断	17984323	GOA
involved in vesicle budding from membrane	IGI IGI: 通过遗传相互作用推断	18209100	GOA
involved in vesicle budding from membrane	IMP IMP: 通过突变表型推断	18209100	GOA
involved in viral budding from plasma membrane	IDA IDA: 通过直接分析推断	24878737	GOA
involved in viral budding via host ESCRT complex	IDA IDA: 通过直接分析推断	24878737	GOA
involved in viral budding via host ESCRT complex	IGI IGI: 通过遗传相互作用推断	24107264	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of ESCRT III complex	IDA IDA: 通过直接分析推断	18209100	GOA
located in amphisome membrane	IDA IDA: 通过直接分析推断	17984323	GOA
located in autophagosome membrane	IDA IDA: 通过直接分析推断	17984323	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	21975012	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: 通过直接分析推断	18209100	GOA
colocalizes with endosome	IDA IDA: 通过直接分析推断	24878737	GOA
located in kinetochore	IDA IDA: 通过直接分析推断	26040712	GOA
located in kinetochore microtubule	IDA IDA: 通过直接分析推断	26040712	GOA
located in lysosomal membrane	IDA IDA: 通过直接分析推断	17984323	GOA
part of membrane coat	IMP IMP: 通过突变表型推断	24878737	GOA
located in midbody	IDA IDA: 通过直接分析推断	22724069	GOA
located in multivesicular body membrane	IDA IDA: 通过直接分析推断	16554368	GOA
part of nuclear pore	IDA IDA: 通过直接分析推断	26040713	GOA
located in nucleus	IDA IDA: 通过直接分析推断	21975012	GOA
colocalizes with plasma membrane	IDA IDA: 通过直接分析推断	24878737	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	24878737	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

CHMP4A 蛋白结构

Snf7

0
100
200
222 a.a.

蛋白主名

其他名称

charged multivesicular body protein 4a

SNF7 homolog associated with Alix-2

CHMP4A 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
Intra	CHMP4A	Q9BY43	PDCD6IP	Homo sapiens	Q8WUM4	Pull Down	17350572
Intra	CHMP4A	Q9BY43	SYT17	Homo sapiens	Q9BSW7	Y2H Pooling	16189514
Intra	CHMP4A	Q9BY43	SYT17	Homo sapiens	Q9BSW7	Y2H Array	25416956
Intra	CHMP4A	Q9BY43	CHMP4B	Homo sapiens	Q9H444	Y2H	16730941

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

Cataract 31, Multiple Types

Cataract, Posterior Polar, 3	Ctpp3
Cataract 31 Multiple Types	CTRCT31
Cpp3	Posterior Polar Cataract 3
Cataract, Type 31, Multiple Types

Cataract 32, Multiple Types

Cataract, Posterior Polar, 5	Ctpp5
CTRCT32	Ctaa1
Cataract, Anterior Polar	Cap
Cataract 32 Multiple Types	Cataract, Anterior Polar, 1
Anterior Polar Cataract 1	Posterior Polar Cataract 5
Cataract, Anterior Polar 1

Cataract 16, Multiple Types

Cataract 16 Multiple Types	CTRCT16
Ctpp2	Cataract, Posterior Polar, 2
Posterior Polar Cataract 2	Cataract, Congenital Lamellar
Congenital Lamellar Cataract

Cataract 11, Multiple Types

Cataract, Posterior Polar, 4	Ctpp4
Cpp4	Cataract 11 Multiple Types
CTRCT11	Cataract 11, Syndromic, Autosomal Recessive
Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities	Posterior Polar Cataract 4
Posterior Polar Cataract, 4	Cataract Posterior Polar 4
Syndromic Cataract 11	Cataract, Type 11, Multiple Types

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Ftd3	Frontotemporal Dementia, Chromosome 3-Linked
Amyotrophic Lateral Sclerosis, Chmp2b-Related	Chromosome 3-Linked Frontotemporal Dementia
FTDALS7	Chmp2b-Related Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 17, Formerly	Als17, Formerly
Amyotrophic Lateral Sclerosis Type 17	Dtm1
Ftd-3	Ftd-Chmp2b
Als17	Amyotrophic Lateral Sclerosis 17
Sclerosis, Lateral, Amyotrophic, Type 17	Dementia, Frontotemporal, Chromosome 3-Linked

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CHMP4A - charged multivesicular body protein 4A Gene

关于 CHMP4A

功能概要

CHMP4A 基因产物(1)

CHMP4A 蛋白结构

CHMP4A 蛋白互作信息

关联疾病

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CHMP4A - charged multivesicular body protein 4A Gene

关于 CHMP4A

功能概要

CHMP4A 基因产物(1)

CHMP4A 蛋白结构

CHMP4A 蛋白互作信息

关联疾病

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热门区域

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Q

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