1. Gene
  2. CHMP1B - charged multivesicular body protein 1B Gene

CHMP1B - charged multivesicular body protein 1B Gene

中文名称:带电多泡体蛋白 1B

种属: Homo sapiens

同用名: Vps46B; C10orf2; C18orf2; CHMP1.5; Vps46-2; C18-ORF2; hVps46-2

基因 ID: 57132 | 基因类型: protein coding

关于 CHMP1B

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:11,851,413-11,854,444 (from NCBI)

This gene has 2 transcripts (splice variants), 189 orthologues and 4 paralogues.

功能概要

CHMP1B 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]

CHMP1B 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]

CHMP1B 基因产物(1)

mRNA Protein Name
NM_020412.5 NP_065145.2 charged multivesicular body protein 1b
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 MIT domain binding IDA
IDA: 通过直接分析推断
16174732 GOA
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
14505570 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
17928862 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 cell division IMP
IMP: 通过突变表型推断
19129479 GOA
involved in establishment of protein localization IMP
IMP: 通过突变表型推断
23015756 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
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 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 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 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
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
24878737 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 endosome membrane IDA
IDA: 通过直接分析推断
25556234 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
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
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

CHMP1B 蛋白结构

Snf7

Snf7: Snf7 (9 - 171)

  • 0
  • 100
  • 199 a.a.
蛋白主名 其他名称

charged multivesicular body protein 1b

chromatin modifying protein 1B

关联疾病

疾病名称 别名
Pontocerebellar Hypoplasia, Type 8

Pontocerebellar Hypoplasia Type 8

PCH8

Pontocerebellar Hypoplasia Due To Chmp1a Mutation

Pontocerebellar Hypoplasia 8

Hypoplasia, Pontocerebellar, Type 8

Pontocerebellar Hypoplasia, Type 1a

Pontocerebellar Hypoplasia Type 1a

PCH1A

Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

Pch1

Pontocerebellar Hypoplasia 1a

Hypoplasia, Pontocerebellar, Type 1a

Pontocerebellar Hypoplasia Type 1

Spastic Paraplegia 80, Autosomal Dominant

SPG80

Hereditary Spastic Paraplegia 80

Spastic Paraplegia 80 Autosomal Dominant

Doid:0112341

Spinal Cord Neuroblastoma

Neuroblastoma Of The Spinal Cord

Spinal Cord Primitive Neuroectodermal Neoplasm

Spinal Cord Pnet

Spinal Cord Primitive Neuroectodermal Tumor

Spastic Paraplegia 10, Autosomal Dominant

SPG10

Hereditary Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia Type 10

Spastic Paraplegia 10

Spastic Paraplegia 10 With Or Without Peripheral Neuropathy

Autosomal Dominant Spastic Paraplegia 10

Autosomal Dominant Spastic Paraplegia

Spastic Paraplegia, Autosomal Dominant

Paraplegia, Spastic, Autosomal Dominant, Type 10

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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 CHMP1B RGD RGD:1593500
Mus musculus CHMP1B MGD MGI:1914314