CHMP1B - charged multivesicular body protein 1B Gene

Homo sapiens

Also known as Vps46B; C10orf2; C18orf2; CHMP1.5; Vps46-2; C18-ORF2; hVps46-2

Gene ID: 57132 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_020412.5	NP_065145.2	charged multivesicular body protein 1b

CHMP1B Protein Structure

Snf7

0
100
199 a.a.

Protein Preferred Names

Protein Names

charged multivesicular body protein 1b

chromatin modifying protein 1B

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02639	CHMP1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CHMP1B	RGD	RGD:1593500
Mus musculus	CHMP1B	MGD	MGI:1914314

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