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CHMP4A - charged multivesicular body protein 4A Gene

Also Known as SNF7; CHMP4; SHAX2; CHMP4B; SNF7-1; VPS32A; HSPC134; VPS32-1; C14orf123

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 29082

About CHMP4A

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:24,209,615-24,213,488 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 77 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 27.3), lymph node (RPKM 25.9) and 25 other tissues.

Summary

CHMP4A 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]

CHMP4A Products (1)

mRNA	Protein	Name
NM_014169.5	NP_054888.3	charged multivesicular body protein 4a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase binding	IPI IPI: Inferred from physical interaction	18209100	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	18209100	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14505570	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	14519844	GOA

Biological Process GO Annotation	Evidence	References	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 membrane invagination	IMP IMP: Inferred from mutant phenotype	24878737	GOA
involved in midbody abscission	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 sorting pathway	IMP IMP: Inferred from mutant phenotype	21975012	GOA
involved in nervous system process	IMP IMP: Inferred from mutant phenotype	21975012	GOA
involved in nuclear membrane reassembly	IMP IMP: Inferred from mutant phenotype	26040713	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 plasma membrane tubulation	IGI IGI: Inferred from genetic interaction	18209100	GOA
involved in plasma membrane tubulation	IMP IMP: Inferred from mutant phenotype	18209100	GOA
involved in post-translational protein targeting to endoplasmic reticulum membrane	IMP IMP: Inferred from mutant phenotype	21975012	GOA
involved in protein polymerization	IMP IMP: Inferred from mutant phenotype	18209100	GOA
involved in regulation of mitotic spindle assembly	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IDA IDA: Inferred from direct assay	17984323	GOA
involved in vesicle budding from membrane	IGI IGI: Inferred from genetic interaction	18209100	GOA
involved in vesicle budding from membrane	IMP IMP: Inferred from mutant phenotype	18209100	GOA
involved in viral budding from plasma membrane	IDA IDA: Inferred from direct assay	24878737	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	IGI IGI: Inferred from genetic interaction	24107264	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of ESCRT III complex	IDA IDA: Inferred from direct assay	18209100	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 cytoplasm	IDA IDA: Inferred from direct assay	21975012	GOA
located in cytoplasmic side of plasma membrane	IDA IDA: Inferred from direct assay	18209100	GOA
colocalizes with endosome	IDA IDA: Inferred from direct assay	24878737	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 lysosomal membrane	IDA IDA: Inferred from direct assay	17984323	GOA
part of membrane coat	IMP IMP: Inferred from mutant phenotype	24878737	GOA
located in midbody	IDA IDA: Inferred from direct assay	22724069	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 nucleus	IDA IDA: Inferred from direct assay	21975012	GOA
colocalizes with plasma membrane	IDA IDA: Inferred from direct assay	24878737	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	24878737	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

CHMP4A Protein Structure

Snf7

0
100
200
222 a.a.

Protein Preferred Names	Protein Names
charged multivesicular body protein 4a	SNF7 homolog associated with Alix-2

CHMP4A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CHMP4A	Q9BY43	PDCD6IP	Homo sapiens	Q8WUM4	Pull Down	17350572
Intra	CHMP4A	Q9BY43	SYT17	Homo sapiens	Q9BSW7	Y2H Pooling	16189514
Intra	CHMP4A	Q9BY43	SYT17	Homo sapiens	Q9BSW7	Y2H Array	25416956
Intra	CHMP4A	Q9BY43	CHMP4B	Homo sapiens	Q9H444	Y2H	16730941

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cataract 31, Multiple Types	Cataract, Posterior Polar, 3 Ctpp3 Cataract 31 Multiple Types CTRCT31 Cpp3 Posterior Polar Cataract 3 Cataract, Type 31, Multiple Types
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
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 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
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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02643	CHMP4A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02644	CHMP4B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown