1. Gene
  2. CHMP3 - charged multivesicular body protein 3 Gene

CHMP3 - charged multivesicular body protein 3 Gene

中文名称:带电多泡体蛋白 3

种属: Homo sapiens

同用名: NEDF; VPS24; CGI-149

基因 ID: 51652 | 基因类型: protein coding

关于 CHMP3

Cytogenetic location: 2p11.2 Genomic coordinates (GRCh38): 2:86,503,430-86,563,443 (from NCBI)

This gene has 9 transcripts (splice variants), 208 orthologues and 4 paralogues. Ubiquitous expression in esophagus (RPKM 41.6), thyroid (RPKM 40.0) and 25 other tissues.

功能概要

该基因编码的蛋白质可通过多泡体 (MVB) 通路将跨膜蛋白分选到溶酶体/液泡中。这种蛋白质与其他含有可溶性卷曲螺旋的蛋白质一起构成了 ESCRT-III 蛋白质复合物的一部分,该复合物与内体膜结合并招募额外的辅助因子将蛋白质分选到 MVB 中。该蛋白还可以与 IFG 结合蛋白超家族的成员进行免疫共沉淀。可变剪接导致多个转录本变体。该基因与上游无名指蛋白 103 (RNF103) 基因之间也存在通读转录。[RefSeq 提供,2010 年 11 月]

This gene encodes a protein that sorts transmembrane proteins into lysosomes/vacuoles via the multivesicular body (MVB) pathway. This protein, along with Other soluble coiled-coil containing proteins, forms part of the ESCRT-III protein complex that binds to the endosomal membrane and recruits additional cofactors for protein sorting into the MVB. This protein may also co-immunoprecipitate with a member of the IFG-binding protein superfamily. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ring finger protein 103 (RNF103) gene. [provided by RefSeq, Nov 2010]

CHMP3 基因产物(3)

mRNA Protein Name
NM_001005753.3 NP_001005753.1 charged multivesicular body protein 3 isoform 2
NM_001193517.2 NP_001180446.1 charged multivesicular body protein 3 isoform 3
NM_016079.4 NP_057163.1 charged multivesicular body protein 3 isoform 1
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
17146056 GOA
enables molecular function inhibitor activity EXP
EXP: 通过实验结果推断
21827950 GOA
enables phosphatidylcholine binding IMP
IMP: 通过突变表型推断
18687924 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14505570 GOA
enables ubiquitin-specific protease binding IPI
IPI: 通过物理相互作用推断
18395747 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 midbody abscission IMP
IMP: 通过突变表型推断
20616062 GOA
NOT involved in mitotic metaphase chromosome alignment 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-lysosome fusion IMP
IMP: 通过突变表型推断
16554368 GOA
involved in nuclear membrane reassembly IMP
IMP: 通过突变表型推断
26040713 GOA
NOT involved in nucleus organization IMP
IMP: 通过突变表型推断
20616062 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 protein polymerization IDA
IDA: 通过直接分析推断
23051622 GOA
involved in regulation of centrosome duplication IMP
IMP: 通过突变表型推断
20616062 GOA
involved in regulation of early endosome to late endosome transport IMP
IMP: 通过突变表型推断
16554368 GOA
NOT involved in regulation of exosomal secretion IMP
IMP: 通过突变表型推断
22660413 GOA
NOT involved in regulation of mitotic spindle assembly 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 suppression of viral release by host IMP
IMP: 通过突变表型推断
16740483 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 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 IMP
IMP: 通过突变表型推断
16740483 GOA
involved in viral release from host cell IGI
IGI: 通过遗传相互作用推断
23051622 GOA
involved in viral release from host cell IMP
IMP: 通过突变表型推断
23051622 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
18687924 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 cytoplasmic vesicle IDA
IDA: 通过直接分析推断
16740483 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 late endosome IDA
IDA: 通过直接分析推断
16554368 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
17984323 GOA
located in midbody IDA
IDA: 通过直接分析推断
26040712 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 plasma membrane IDA
IDA: 通过直接分析推断
16740483 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

CHMP3 蛋白结构

Snf7

Snf7: Snf7 (18 - 187)

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

charged multivesicular body protein 3

25.1 protein

关联疾病

疾病名称 别名
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

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
Mus musculus CHMP3 MGD MGI:1913950
Rattus norvegicus CHMP3 RGD RGD:708556