• Gene id: 5119

Gene Summary

• Gene Symbol: CHMP1A   Gene   UCSC   Ensembl
• Aliases: CHMP1, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A
• Gene name: charged multivesicular body protein 1A
• Alternate names: charged multivesicular body protein 1a, charged multivesicular body protein 1/chromatin modifying protein 1, chromatin modifying protein 1A, procollagen (type III) N-endopeptidase, protease, metallo, 1, 33kD, vacuolar protein sorting-associated protein 46-1,
• Gene location: 16q24.3 (107140016: 107484922)     Exons: 12     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the CHMP/Chmp family of proteins which are involved in multivesicular body sorting of proteins to the interiors of lysosomes. The initial prediction of the protein sequence encoded by this gene suggested that the encoded prot
• OMIM: 164010

Protein Summary

• Protein general information: Q9HD42  
  • Name: Charged multivesicular body protein 1a (Chromatin modifying protein 1a) (CHMP1a) (Vacuolar protein sorting associated protein 46 1) (Vps46 1) (hVps46 1)
  • Length: 196  
  • Mass: 21703
  • Tissue specificity: Expressed in placenta, cultured skin fibroblasts and in osteoblast cell line MG-63. {ECO
• Sequence:

  MDDTLFQLKFTAKQLEKLAKKAEKDSKAEQAKVKKALLQKNVECARVYAENAIRKKNEGVNWLRMASRVDAVASK
  VQTAVTMKGVTKNMAQVTKALDKALSTMDLQKVSSVMDRFEQQVQNLDVHTSVMEDSMSSATTLTTPQEQVDSLI
  MQIAEENGLEVLDQLSQLPEGASAVGESSVRSQEDQLSRRLAALRN

• Structural information:
  • Interpro: IPR029888  IPR005024  
  • PDB: 2JQ9 2YMB 4A5X
  • PDBsum: 2JQ9 2YMB 4A5X
  • DIP: 50647
  • STRING: ENSP00000380998
• Other Databases: GeneCards:  CHMP1A  Malacards:  CHMP1A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904903	ESCRT III complex disassembly	NAS	biological process
GO:0036258	multivesicular body assembly	NAS	biological process
GO:0039702	viral budding via host ESCRT complex	NAS	biological process
GO:0000815	ESCRT III complex	IBA	cellular component
GO:0015031	protein transport	IBA	biological process
GO:0005771	multivesicular body	IBA	cellular component
GO:0032509	endosome transport via multivesicular body sorting pathway	IBA	biological process
GO:0045324	late endosome to vacuole transport	IBA	biological process
GO:0061952	midbody abscission	IMP	biological process
GO:0007076	mitotic chromosome condensation	IEA	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0016363	nuclear matrix	IEA	cellular component
GO:0000815	ESCRT III complex	IEA	cellular component
GO:0007034	vacuolar transport	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	TAS	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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: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:0016363	nuclear matrix	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0016363	nuclear matrix	IDA	cellular component
GO:0016192	vesicle-mediated transport	IDA	biological process
GO:0007076	mitotic chromosome condensation	IDA	biological process
GO:0005815	microtubule organizing center	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0016458	gene silencing	IDA	biological process
GO:0012505	endomembrane system	IDA	cellular component
GO:0000794	condensed nuclear chromosome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045786	negative regulation of cell cycle	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:0070062	extracellular exosome	HDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0051301	cell division	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:0019904	protein domain specific binding	IPI	molecular function
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0010824	regulation of centrosome duplication	IMP	biological process
GO:1901673	regulation of mitotic spindle assembly	IMP	biological process
GO:0007080	mitotic metaphase plate congression	IMP	biological process
GO:0006997	nucleus organization	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04217	Necroptosis

Diseases

Associated diseases	References
Pontocerebellar hypoplasia	KEGG:H00897
Pontocerebellar hypoplasia	KEGG:H00897
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881