1. Gene
  2. CHMP4B - charged multivesicular body protein 4B Gene

CHMP4B - charged multivesicular body protein 4B Gene

中文名称:带电多泡体蛋白 4B

种属: Homo sapiens

同用名: SNF7; CTPP3; Shax1; CHMP4A; SNF7-2; VPS32B; CTRCT31; Vps32-2; C20orf178; dJ553F4.4

基因 ID: 128866 | 基因类型: protein coding

关于 CHMP4B

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:33,811,348-33,854,366 (from NCBI)

This gene has 1 transcript (splice variant), 300 orthologues, 4 paralogues and is associated with 4 phenotypes. Ubiquitous expression in colon (RPKM 76.6), bone marrow (RPKM 71.5) and 25 other tissues.

功能概要

该基因编码染色质修饰蛋白/带电多泡体蛋白 (CHMP) 蛋白家族的成员。该蛋白质是转运 (ESCRT) 复合体 III (ESCRT-III) 所需的内体分选复合体的一部分,其功能是将内吞细胞表面受体分选成多泡内体。 ESCRT 机制还在胞质分裂的最后脱落阶段和包膜病毒 (如 HIV-1) 的萌芽中发挥作用。 CHMP4 亚家族的三种蛋白质与程序性细胞死亡 6 相互作用蛋白 (PDCD6IP,也称为 ALIX) 相互作用,后者也在 ESCRT 通路中发挥作用。 CHMP4 蛋白组装成膜附着的 5 纳米细丝,形成圆形支架并促进或稳定向外出芽。这些聚合物被提议用于帮助产生多泡体的腔泡。该基因的突变会导致常染色体显性后极性白内障。[RefSeq 提供,2009 年 10 月]

This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These Polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]

CHMP4B 基因产物(1)

mRNA Protein Name
NM_176812.5 NP_789782.1 charged multivesicular body protein 4b
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 identical protein binding IPI
IPI: 通过物理相互作用推断
16730941 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12860994 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 exit from mitosis IMP
IMP: 通过突变表型推断
26040712 GOA
involved in late endosome to lysosome transport IMP
IMP: 通过突变表型推断
17984323 GOA
involved in maintenance of lens transparency IMP
IMP: 通过突变表型推断
17701905 GOA
involved in membrane fission IMP
IMP: 通过突变表型推断
21310966 GOA
involved in midbody abscission IMP
IMP: 通过突变表型推断
20616062 GOA
involved in mitotic cytokinesis IMP
IMP: 通过突变表型推断
21310966 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
26040712 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 post-translational protein targeting to endoplasmic reticulum membrane IMP
IMP: 通过突变表型推断
21975012 GOA
involved in protein polymerization IDA
IDA: 通过直接分析推断
18209100 GOA
involved in regulation of centrosome duplication IMP
IMP: 通过突变表型推断
20616062 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 ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway IMP
IMP: 通过突变表型推断
22547407 GOA
involved in viral budding IMP
IMP: 通过突变表型推断
17701905 GOA
involved in viral budding from plasma membrane IDA
IDA: 通过直接分析推断
24878737 GOA
involved in viral budding from plasma membrane IMP
IMP: 通过突变表型推断
14505570 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
17701905 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: 通过直接分析推断
18209100 GOA
located in endosome IDA
IDA: 通过直接分析推断
17701905 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 IDA
IDA: 通过直接分析推断
24878737 GOA
located in midbody IDA
IDA: 通过直接分析推断
21310966 GOA
located in multivesicular body membrane IDA
IDA: 通过直接分析推断
16554368 GOA
located in nuclear envelope IDA
IDA: 通过直接分析推断
26040712 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
located in plasma membrane IDA
IDA: 通过直接分析推断
24878737 GOA
located in vesicle IDA
IDA: 通过直接分析推断
25468996 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

CHMP4B 蛋白结构

Snf7

Snf7: Snf7 (24 - 198)

  • 0
  • 100
  • 200
  • 224 a.a.
蛋白主名 其他名称

charged multivesicular body protein 4b

SNF7 homolog associated with Alix 1

CHMP4B 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
CHMP4B Q9H444 UBE2I Homo sapiens Q7KZS0 32296183
种属内
CHMP4B Q9H444 UBE2I Homo sapiens Q7KZS0 32296183
种属内
CHMP4B Q9H444 CHMP4A Homo sapiens Q9BY43-2 32296183
种属内
CHMP4B Q9H444 CHMP4A Homo sapiens Q9BY43-2 32296183
种属内
CHMP4B Q9H444 CHMP3 Homo sapiens Q9Y3E7 26496610
种属内
CHMP4B Q9H444 CHMP3 Homo sapiens Q9Y3E7
SPR
23051622
种属内
CHMP4B Q9H444 CHMP3 Homo sapiens Q9Y3E7
Y2H
16730941
种属内
CHMP4B Q9H444 CHMP2A Homo sapiens O43633
SPR
23051622
种属内
CHMP4B Q9H444 CHMP2A Homo sapiens O43633 26496610
种属内
CHMP4B Q9H444 PDCD6IP Homo sapiens Q8WUM4
FPS
22484091
种属内
CHMP4B Q9H444 PDCD6IP Homo sapiens Q8WUM4 26496610
种属内
CHMP4B Q9H444 PDCD6IP Homo sapiens Q8WUM4 18434552
种属内
CHMP4B Q9H444 STAMBP Homo sapiens O95630
Y2H
17711858
种属内
CHMP4B Q9H444 STAMBP Homo sapiens O95630
Y2H
16730941
种属内
CHMP4B Q9H444 HTT Homo sapiens P42858
Y2H
17500595
种属内
CHMP4B Q9H444 CC2D1A Homo sapiens Q6P1N0 26496610
种属内
CHMP4B Q9H444 CC2D1A Homo sapiens Q6P1N0 35271311
种属内
CHMP4B Q9H444 CHMP2B Homo sapiens Q9UQN3 26496610
种属内
CHMP4B Q9H444 CHMP2B Homo sapiens Q9UQN3
SPR
23051622
种属内
CHMP4B Q9H444 PTPN23 Homo sapiens Q9H3S7
Y2H
17174262
种属内
CHMP4B Q9H444 PTPN23 Homo sapiens Q9H3S7 18434552
种属内
CHMP4B Q9H444 PLIN3 Homo sapiens O60664 32296183
种属内
CHMP4B Q9H444 PLIN3 Homo sapiens O60664 32296183
种属内
CHMP4B Q9H444 CHMP4A Homo sapiens Q9BY43
Y2H
16730941
种属内
CHMP4B Q9H444 CHMP7 Homo sapiens Q8WUX9 16856878
种属内
CHMP4B Q9H444 CHMP5 Homo sapiens Q9NZZ3
Y2H
16730941
种属内
CHMP4B Q9H444 CHMP5 Homo sapiens Q9NZZ3 26496610
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

Early-Onset Posterior Subcapsular Cataract
Early-Onset Posterior Polar Cataract
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

Posterior Polar Cataract

Cataract, Posterior Polar

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

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Deprivation Amblyopia

Disuse Amblyopia

Stimulus Deprivation Amblyopia

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

Ayme-Gripp Syndrome

AYGRP

Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation

Aymé-Gripp Syndrome

Fine-Lubinsky Syndrome

Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome

Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

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 CHMP4B VGNC VGNC:84577
Felis catus CHMP4B VGNC VGNC:80064
Mus musculus CHMP4B MGD MGI:1922858
Bos taurus CHMP4B VGNC VGNC:56180
Rattus norvegicus CHMP4B RGD RGD:1309846
Canis familiaris CHMP4B VGNC VGNC:54643
Others CHMP4B NCBI