• Gene id: 57132

Gene Summary

• Gene Symbol: CHMP1B   Gene   UCSC   Ensembl
• Aliases: C10orf2, C18-ORF2, C18orf2, CHMP1.5, Vps46-2, Vps46B, hVps46-2
• Gene name: charged multivesicular body protein 1B
• Alternate names: charged multivesicular body protein 1b, chromatin modifying protein 1B, chromatin-modifying protein 1b, vacuolar protein sorting 46-2, vacuolar protein sorting-associated protein 46-2,
• Gene location: 18p11.21 (11851412: 11854443)     Exons: 1     NC_000018.10
• Gene summary(Entrez): 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 p
• OMIM: 600747

Protein Summary

• Protein general information: Q7LBR1  
  • Name: Charged multivesicular body protein 1b (CHMP1.5) (Chromatin modifying protein 1b) (CHMP1b) (Vacuolar protein sorting associated protein 46 2) (Vps46 2) (hVps46 2)
  • Length: 199  
  • Mass: 22109
  • Tissue specificity: Widely expressed. Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta and brain. {ECO
• Sequence:

  MSNMEKHLFNLKFAAKELSRSAKKCDKEEKAEKAKIKKAIQKGNMEVARIHAENAIRQKNQAVNFLRMSARVDAV
  AARVQTAVTMGKVTKSMAGVVKSMDATLKTMNLEKISALMDKFEHQFETLDVQTQQMEDTMSSTTTLTTPQNQVD
  MLLQEMADEAGLDLNMELPQGQTGSVGTSVASAEQDELSQRLARLRDQV

• Structural information:
  • Interpro: IPR042277  IPR005024  
  • PDB: 3EAB 3JC1 4TXQ 4TXR 6E8G
  • PDBsum: 3EAB 3JC1 4TXQ 4TXR 6E8G
  • DIP: 48534
  • STRING: ENSP00000432279
• Other Databases: GeneCards:  CHMP1B  Malacards:  CHMP1B

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:0005515	protein binding	IPI	molecular function
GO:0007034	vacuolar transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0051301	cell division	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0010008	endosome membrane	IDA	cellular component
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:0031902	late endosome membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0039702	viral budding via host ESCRT complex	IDA	biological process
GO:0000815	ESCRT III complex	IDA	cellular component
GO:0030117	membrane coat	IDA	cellular component
GO:0045184	establishment of protein localization	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:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0019904	protein domain specific 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:0019904	protein domain specific 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:0010824	regulation of centrosome duplication	IMP	biological process
GO:0051301	cell division	IMP	biological process
GO:1901673	regulation of mitotic spindle assembly	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis
hsa04217	Necroptosis

Diseases

Associated diseases	References
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray