CHMP3 - charged multivesicular body protein 3 Gene

Homo sapiens

Also known as NEDF; VPS24; CGI-149

Gene ID: 51652 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	17146056	GOA
enables molecular function inhibitor activity	EXP EXP: Inferred from Experiment	21827950	GOA
enables phosphatidylcholine binding	IMP IMP: Inferred from mutant phenotype	18687924	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14505570	GOA
enables ubiquitin-specific protease binding	IPI IPI: Inferred from physical interaction	18395747	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in autophagosome maturation	IMP IMP: Inferred from mutant phenotype	17984323	GOA
involved in autophagy	IMP IMP: Inferred from mutant phenotype	17984323	GOA
involved in late endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	17984323	GOA
involved in midbody abscission	IMP IMP: Inferred from mutant phenotype	20616062	GOA
NOT involved in mitotic metaphase chromosome alignment	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in mitotic metaphase chromosome alignment	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in multivesicular body sorting pathway	IDA IDA: Inferred from direct assay	16554368	GOA
involved in multivesicular body-lysosome fusion	IMP IMP: Inferred from mutant phenotype	16554368	GOA
involved in nuclear membrane reassembly	IMP IMP: Inferred from mutant phenotype	26040713	GOA
NOT involved in nucleus organization	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in nucleus organization	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in plasma membrane repair	IDA IDA: Inferred from direct assay	24482116	GOA
involved in protein polymerization	IDA IDA: Inferred from direct assay	23051622	GOA
involved in regulation of centrosome duplication	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in regulation of early endosome to late endosome transport	IMP IMP: Inferred from mutant phenotype	16554368	GOA
NOT involved in regulation of exosomal secretion	IMP IMP: Inferred from mutant phenotype	22660413	GOA
NOT involved in regulation of mitotic spindle assembly	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in regulation of mitotic spindle assembly	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in suppression of viral release by host	IMP IMP: Inferred from mutant phenotype	16740483	GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IDA IDA: Inferred from direct assay	17984323	GOA
involved in viral budding from plasma membrane	IDA IDA: Inferred from direct assay	24878737	GOA
involved in viral budding from plasma membrane	IMP IMP: Inferred from mutant phenotype	14505570	GOA
involved in viral budding via host ESCRT complex	IDA IDA: Inferred from direct assay	24878737	GOA
involved in viral budding via host ESCRT complex	IMP IMP: Inferred from mutant phenotype	16740483	GOA
involved in viral release from host cell	IGI IGI: Inferred from genetic interaction	23051622	GOA
involved in viral release from host cell	IMP IMP: Inferred from mutant phenotype	23051622	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of ESCRT III complex	IDA IDA: Inferred from direct assay	18687924	GOA
located in amphisome membrane	IDA IDA: Inferred from direct assay	17984323	GOA
located in autophagosome membrane	IDA IDA: Inferred from direct assay	17984323	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	16740483	GOA
located in kinetochore	IDA IDA: Inferred from direct assay	26040712	GOA
located in kinetochore microtubule	IDA IDA: Inferred from direct assay	26040712	GOA
located in late endosome	IDA IDA: Inferred from direct assay	16554368	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	17984323	GOA
located in midbody	IDA IDA: Inferred from direct assay	26040712	GOA
located in multivesicular body membrane	IDA IDA: Inferred from direct assay	16554368	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	26040713	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	16740483	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHMP3 Protein Structure

Snf7

0
100
200
222 a.a.

Protein Preferred Names

Protein Names

charged multivesicular body protein 3

25.1 protein

Related Diseases

Diseases

Alias

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

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-RS02642	CHMP3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CHMP3	MGD	MGI:1913950
Rattus norvegicus	CHMP3	RGD	RGD:708556

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