• Gene id: 29082

Gene Summary

• Gene Symbol: CHMP4A   Gene   UCSC   Ensembl
• Aliases: C14orf123, CHMP4, CHMP4B, HSPC134, SHAX2, SNF7, SNF7-1, VPS32-1, VPS32A
• Gene name: charged multivesicular body protein 4A
• Alternate names: charged multivesicular body protein 4a, SNF7 homolog associated with Alix-2, Snf7 homologue associated with Alix 2, chromatin modifying protein 4A, vacuolar protein sorting-associated protein 32-1,
• Gene location: 14q12 (113150975: 113164139)     Exons: 5     NC_000009.12
• Gene summary(Entrez): 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 p
• OMIM: 610051

Protein Summary

• Protein general information: Q9BY43  
  • Name: Charged multivesicular body protein 4a (Chromatin modifying protein 4a) (CHMP4a) (SNF7 homolog associated with Alix 2) (SNF7 1) (hSnf 1) (Vacuolar protein sorting associated protein 32 1) (Vps32 1) (hVps32 1)
  • Length: 222  
  • Mass: 25098
  • Tissue specificity: Widely expressed. Expressed at higher level in heart, kidney, liver and skeletal muscle. Also expressed in brain, placenta, lung and pancreas. {ECO
• Sequence:

  MSGLGRLFGKGKKEKGPTPEEAIQKLKETEKILIKKQEFLEQKIQQELQTAKKYGTKNKRAALQALRRKKRFEQQ
  LAQTDGTLSTLEFQREAIENATTNAEVLRTMELAAQSMKKAYQDMDIDKVDELMTDITEQQEVAQQISDAISRPM
  GFGDDVDEDELLEELEELEQEELAQELLNVGDKEEEPSVKLPSVPSTHLPAGPAPKVDEDEEALKQLAEWVS

• Structural information:
  • Interpro: IPR005024  
  • PDB: 3C3O 5MK1
  • PDBsum: 3C3O 5MK1
  • DIP: 39082
  • STRING: ENSP00000324205
• Other Databases: GeneCards:  CHMP4A  Malacards:  CHMP4A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0036258	multivesicular body assembly	TAS	biological process
GO:0000815	ESCRT III complex	TAS	cellular component
GO:0016236	macroautophagy	TAS	biological process
GO:0039702	viral budding via host ESCRT complex	TAS	biological process
GO:0009898	cytoplasmic side of plasma membrane	IBA	cellular component
GO:0005771	multivesicular body	IBA	cellular component
GO:0032511	late endosome to vacuole transport via multivesicular body sorting pathway	IBA	biological process
GO:0006900	vesicle budding from membrane	IBA	biological process
GO:0000815	ESCRT III complex	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0007034	vacuolar transport	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0030496	midbody	IDA	cellular component
GO:0016197	endosomal transport	TAS	biological process
GO:0019058	viral life cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0009898	cytoplasmic side of plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000815	ESCRT III complex	IDA	cellular component
GO:0005768	endosome	IDA	colocalizes with
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0000815	ESCRT III complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0000815	ESCRT III complex	IDA	cellular component
GO:0039702	viral budding via host ESCRT complex	IDA	biological process
GO:1902902	negative regulation of autophagosome assembly	IMP	biological process
GO:0097320	plasma membrane tubulation	IGI	biological process
GO:0051117	ATPase binding	IPI	molecular function
GO:0006900	vesicle budding from membrane	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0039702	viral budding via host ESCRT complex	IGI	biological process
GO:1901215	negative regulation of neuron death	IMP	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0097320	plasma membrane tubulation	IMP	biological process
GO:0051258	protein polymerization	IMP	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0006900	vesicle budding from membrane	IMP	biological process
GO:0006620	posttranslational protein targeting to endoplasmic reticulum membrane	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006997	nucleus organization	IMP	biological process
GO:0007080	mitotic metaphase plate congression	IMP	biological process
GO:0061952	midbody abscission	IMP	biological process
GO:0010324	membrane invagination	IMP	biological process
GO:0030117	membrane coat	IMP	cellular component
GO:0051258	protein polymerization	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04217	Necroptosis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray